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 NPHP4 261734 broad.mit.edu 37 1 5993284 5993284 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:5993284G>A uc001alq.1 - 10 1491 c.1225C>T c.(1225-1227)CTG>TTG p.L409L NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 409 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CCACCCTGCAGAGGCAGGGTC 0.542 20 67 --- --- --- --- PASS GPR153 387509 broad.mit.edu 37 1 6313942 6313942 + Missense_Mutation SNP C T T rs146978653 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:6313942C>T uc001amp.1 - 3 882 c.622G>A c.(622-624)GAC>AAC p.D208N NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 208 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GCGCGGCGGTCGGCCTGGCGC 0.701 4 19 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7792647 7792647 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:7792647G>C uc001aoi.2 + 12 3261 c.3054G>C c.(3052-3054)GGG>GGC p.G1018G CAMTA1_uc010nzv.1_Silent_p.G105G|CAMTA1_uc001aok.3_Silent_p.G61G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1018 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGAATGGAGGGAGCCAGGCAC 0.622 6 5 --- --- --- --- PASS SLC45A1 50651 broad.mit.edu 37 1 8403861 8403861 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:8403861C>G uc001apb.2 + 8 2035 c.2035C>G c.(2035-2037)CTG>GTG p.L679V SLC45A1_uc001apc.2_Missense_Mutation_p.L377V NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 679 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGACATCTCTCTGCTGAGCTG 0.652 18 57 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12336242 12336242 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:12336242C>T uc001atv.2 + 19 2738 c.2597C>T c.(2596-2598)TCA>TTA p.S866L VPS13D_uc001atw.2_Missense_Mutation_p.S866L|VPS13D_uc001atx.2_Missense_Mutation_p.S54L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 866 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) ATTTATACTTCAGATCCCAAA 0.408 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 60 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18691730 18691730 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:18691730G>C uc001bau.1 + 6 937 c.554G>C c.(553-555)CGA>CCA p.R185P IGSF21_uc001bav.1_Missense_Mutation_p.R6P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 185 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TATTTCAAACGAGATGGGGAA 0.557 21 48 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22902721 22902721 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:22902721C>T uc001bfx.1 + 3 296 c.171C>T c.(169-171)ATC>ATT p.I57I EPHA8_uc001bfw.2_Silent_p.I57I NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 57 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGGACTCCATCAACGAGGTGG 0.597 13 110 --- --- --- --- PASS SRRM1 10250 broad.mit.edu 37 1 24995649 24995649 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:24995649C>G uc001bjm.2 + 14 1999 c.1775C>G c.(1774-1776)TCT>TGT p.S592C SRRM1_uc010oel.1_Missense_Mutation_p.S604C|SRRM1_uc009vrh.1_Missense_Mutation_p.S565C|SRRM1_uc009vri.1_Missense_Mutation_p.S521C NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 592 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CGCTCACCTTCTCCTAGAAGA 0.468 14 67 --- --- --- --- PASS WDTC1 23038 broad.mit.edu 37 1 27618778 27618778 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:27618778G>T uc009vst.2 + 7 1087 c.552G>T c.(550-552)CTG>CTT p.L184L WDTC1_uc001bno.2_Silent_p.L184L|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 184 WD 4. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GTGGCCAGCTGGTGGAGGCCA 0.567 35 89 --- --- --- --- PASS ZMYM6 9204 broad.mit.edu 37 1 35485050 35485050 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:35485050G>C uc001byh.2 - 4 560 c.332C>G c.(331-333)TCT>TGT p.S111C ZMYM6_uc001byf.1_Missense_Mutation_p.S111C|ZMYM6_uc010oht.1_Missense_Mutation_p.S14C|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.S111C|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Missense_Mutation_p.S111C|ZMYM6_uc001byi.2_Missense_Mutation_p.S111C|ZMYM6_uc001byk.2_Missense_Mutation_p.S111C NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 111 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GAGCTGAGTAGATCCTGTCTT 0.448 50 92 --- --- --- --- PASS MRPS15 64960 broad.mit.edu 37 1 36921956 36921956 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:36921956C>T uc001cas.2 - 7 632 c.468G>A c.(466-468)CTG>CTA p.L156L NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 156 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCTCATTAGCAGATAGCGTT 0.383 22 89 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44422286 44422286 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:44422286G>C uc001ckx.2 + 4 1812 c.1017G>C c.(1015-1017)ATG>ATC p.M339I NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 339 HEAT 5. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TCGTCAACATGATTATGTTCT 0.537 17 179 --- --- --- --- PASS RNF220 55182 broad.mit.edu 37 1 45110680 45110680 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:45110680G>A uc001clv.1 + 10 1597 c.1237G>A c.(1237-1239)GAT>AAT p.D413N RNF220_uc001clw.1_Missense_Mutation_p.D413N|RNF220_uc010oky.1_Missense_Mutation_p.D200N|RNF220_uc010okz.1_Missense_Mutation_p.D155N|RNF220_uc001clx.1_Missense_Mutation_p.D129N|RNF220_uc001cly.1_Missense_Mutation_p.D92N|RNF220_uc001clz.1_Missense_Mutation_p.D92N|RNF220_uc001cma.1_Missense_Mutation_p.D92N|TMEM53_uc001cmb.1_Intron NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 413 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CACAGAGGCTGATGTCATCCC 0.587 9 36 --- --- --- --- PASS TESK2 10420 broad.mit.edu 37 1 45887417 45887417 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:45887417G>A uc001cns.1 - 3 727 c.324C>T c.(322-324)CTC>CTT p.L108L TESK2_uc009vxr.1_Silent_p.L108L|TESK2_uc010olo.1_Silent_p.L25L|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Silent_p.L108L NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 108 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) TGGGATGGGAGAGTCTATTCA 0.428 11 182 --- --- --- --- PASS TESK2 10420 broad.mit.edu 37 1 45887497 45887497 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:45887497G>A uc001cns.1 - 3 647 c.244C>T c.(244-246)CAG>TAG p.Q82* TESK2_uc009vxr.1_Nonsense_Mutation_p.Q82*|TESK2_uc010olo.1_5'UTR|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Nonsense_Mutation_p.Q82* NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 82 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) GCCATCACCTGACCAGAAGCT 0.418 6 136 --- --- --- --- PASS ATPAF1 64756 broad.mit.edu 37 1 47123837 47123837 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:47123837C>G uc001cqh.2 - 4 556 c.451G>C c.(451-453)GAG>CAG p.E151Q ATPAF1_uc001cqg.2_5'UTR|ATPAF1_uc009vyk.2_5'UTR|ATPAF1_uc010omg.1_Missense_Mutation_p.E63Q|ATPAF1_uc001cqi.2_Missense_Mutation_p.E151Q NM_022745 NP_073582 Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly 151 protein complex assembly mitochondrion protein binding 0 Acute lymphoblastic leukemia(166;0.155) TTTACCATCTCAATGTTAAAG 0.308 3 72 --- --- --- --- PASS NRD1 4898 broad.mit.edu 37 1 52289374 52289374 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:52289374T>A uc001ctc.3 - 9 1647 c.1325A>T c.(1324-1326)TAC>TTC p.Y442F NRD1_uc009vzb.2_Missense_Mutation_p.Y137F|NRD1_uc001ctd.3_Missense_Mutation_p.Y374F|NRD1_uc001cte.2_Missense_Mutation_p.Y310F|NRD1_uc001ctf.2_Missense_Mutation_p.Y374F|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.Y242F NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 373 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 ATGAGAAGAGTAGTAACGCAT 0.358 23 130 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52991868 52991868 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:52991868T>C uc001ctx.2 - 2 319 c.85A>G c.(85-87)ATA>GTA p.I29V ZCCHC11_uc001cty.2_Missense_Mutation_p.I29V|ZCCHC11_uc001ctz.2_Missense_Mutation_p.I29V|ZCCHC11_uc009vze.1_Missense_Mutation_p.I29V|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.I29V|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.I29V NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 29 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TGATTACCTATAACTTGAACT 0.284 22 52 --- --- --- --- PASS HOOK1 51361 broad.mit.edu 37 1 60312778 60312778 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:60312778G>A uc009wad.2 + 11 952 c.850G>A c.(850-852)GAA>AAA p.E284K HOOK1_uc001czo.2_Missense_Mutation_p.E284K|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E242K NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 284 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) GCAGCTAATCGAATTCCAGCA 0.348 24 152 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62503707 62503707 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:62503707C>G uc001dab.2 + 30 4132 c.4018C>G c.(4018-4020)CCA>GCA p.P1340A INADL_uc009waf.1_Missense_Mutation_p.P1340A|INADL_uc001daa.2_Missense_Mutation_p.P1340A|INADL_uc001dad.3_Missense_Mutation_p.P1037A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P124A|INADL_uc009wag.2_Missense_Mutation_p.P124A|INADL_uc010oou.1_Missense_Mutation_p.P13A NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1340 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 ATCAAGTTCTCCATCTTCTAT 0.383 11 160 --- --- --- --- PASS L1TD1 54596 broad.mit.edu 37 1 62672662 62672662 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:62672662G>A uc001dae.3 + 3 664 c.362G>A c.(361-363)GGA>GAA p.G121E NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 121 ovary(1)|skin(1) 2 aaaatagaaggagaaaactct 0.050 24 127 --- --- --- --- PASS SLC35D1 23169 broad.mit.edu 37 1 67486081 67486081 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:67486081G>C uc001ddk.2 - 10 1231 c.847C>G c.(847-849)CTT>GTT p.L283V SLC35D1_uc010oph.1_Missense_Mutation_p.L204V NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 283 Helical; (Potential). chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) GTAGTTGTAAGAGCAGAATTA 0.328 12 140 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75112383 75112383 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:75112383G>T uc001dgg.2 - 3 430 c.211C>A c.(211-213)CAG>AAG p.Q71K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 71 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AAAATTGCCTGGGCTAAGCAT 0.294 3 10 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77759537 77759537 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:77759537C>G uc001dhn.2 + 3 564 c.307C>G c.(307-309)CAA>GAA p.Q103E AK5_uc001dho.2_Missense_Mutation_p.Q77E|AK5_uc001dhm.1_Intron NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 103 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TCCAATCCATCAATTCTCCAT 0.418 4 76 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103380302 103380302 + Silent SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:103380302A>T uc001dul.2 - 51 4200 c.3882T>A c.(3880-3882)GGT>GGA p.G1294G COL11A1_uc001duk.2_Silent_p.G490G|COL11A1_uc001dum.2_Silent_p.G1306G|COL11A1_uc001dun.2_Silent_p.G1255G|COL11A1_uc009weh.2_Silent_p.G1178G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1294 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) GCCCCTTGGCACCTGGAGGTC 0.493 5 44 --- --- --- --- PASS SORT1 6272 broad.mit.edu 37 1 109883349 109883349 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:109883349C>T uc001dxm.1 - 10 1310 c.1261G>A c.(1261-1263)GAA>AAA p.E421K SORT1_uc010ovi.1_Missense_Mutation_p.E284K NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 421 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GACTCACCTTCGGAGAGCACG 0.552 9 87 --- --- --- --- PASS PSMA5 5686 broad.mit.edu 37 1 109944647 109944647 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:109944647G>C uc001dxn.2 - 9 799 c.714C>G c.(712-714)ATC>ATG p.I238M PSMA5_uc010ovj.1_Missense_Mutation_p.I180M NM_002790 NP_002781 P28066 PSA5_HUMAN proteasome alpha 5 subunit 238 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity 0 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) AAATGTCCTTGATAACCTCTT 0.408 27 179 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112958854 112958854 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:112958854G>A uc001ebx.2 + 3 295 c.67G>A c.(67-69)GAA>AAA p.E23K NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 23 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGAGAGCTTGAAGCAAGGGA 0.338 8 108 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113657094 113657094 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:113657094G>C uc001edf.1 + 15 2324 c.2126G>C c.(2125-2127)CGA>CCA p.R709P LRIG2_uc009wgn.1_Missense_Mutation_p.R606P NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 709 Ig-like C2-type 3.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) ACAGTAACACGAGGTGAAACT 0.433 30 73 --- --- --- --- PASS TTF2 8458 broad.mit.edu 37 1 117629135 117629135 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:117629135C>T uc001egy.2 + 12 2171 c.2151C>T c.(2149-2151)CTC>CTT p.L717L NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 717 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GTGCAAACCTCAATGTGGAGG 0.537 7 39 --- --- --- --- PASS TRIM45 80263 broad.mit.edu 37 1 117654991 117654991 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:117654991G>T uc001egz.2 - 6 2267 c.1679C>A c.(1678-1680)TCT>TAT p.S560Y TRIM45_uc009whe.2_Missense_Mutation_p.S542Y|TRIM45_uc001eha.2_Missense_Mutation_p.S456Y NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 560 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TGTGCATTCAGATTTCTCATT 0.527 16 106 --- --- --- --- PASS MAN1A2 10905 broad.mit.edu 37 1 118035835 118035835 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:118035835C>G uc001ehd.1 + 9 1956 c.1235C>G c.(1234-1236)TCA>TGA p.S412* MAN1A2_uc009whg.1_Nonsense_Mutation_p.S202* NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 412 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGTTGATGTCAGATAAAACA 0.368 5 70 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120468265 120468265 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:120468265G>A uc001eik.2 - 25 4430 c.4174C>T c.(4174-4176)CAG>TAG p.Q1392* NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1392 Extracellular (Potential).|EGF-like 35. 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) GGCTGGCGCTGAGGGTGGCAG 0.682 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 7 40 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145112515 145112515 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:145112515C>A uc001eml.1 + 6 629 c.489C>A c.(487-489)CTC>CTA p.L163L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 163 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 GAGAAGCACTCTCAGGTATCT 0.413 4 115 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145281550 145281550 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:145281550C>T uc001emn.3 + 4 850 c.480C>T c.(478-480)CTC>CTT p.L160L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 160 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GCACCTGCCTCAACCTGCCTG 0.562 12 249 --- --- --- --- PASS HIST2H2BF 440689 broad.mit.edu 37 1 149783774 149783774 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:149783774C>T uc001esr.2 - 1 155 c.105G>A c.(103-105)AAG>AAA p.K35K HIST2H2BF_uc010pbj.1_Silent_p.K35K|HIST2H2BF_uc010pbk.1_Silent_p.K35K NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 35 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) AGTAGCTCTCCTTGCGGCTGC 0.572 107 237 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150429815 150429815 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:150429815C>T uc009wlr.2 + 8 1123 c.922C>T c.(922-924)CAA>TAA p.Q308* RPRD2_uc010pcc.1_Nonsense_Mutation_p.Q282*|RPRD2_uc001eup.3_Nonsense_Mutation_p.Q282* NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 308 protein binding ovary(1) 1 GAAGTTGGATCAATTGAAGTC 0.418 52 111 --- --- --- --- PASS GOLPH3L 55204 broad.mit.edu 37 1 150620868 150620868 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:150620868C>T uc001evj.2 - 5 1004 c.787G>A c.(787-789)GAA>AAA p.E263K GOLPH3L_uc010pci.1_Missense_Mutation_p.E219K NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 263 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CCTTCCACTTCAGGGTCCAGT 0.488 25 127 --- --- --- --- PASS S100A13 6284 broad.mit.edu 37 1 153591394 153591394 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:153591394C>G uc001fcf.3 - 3 433 c.274G>C c.(274-276)GAC>CAC p.D92H S100A14_uc001fce.2_5'Flank|S100A13_uc001fcg.2_Missense_Mutation_p.D92H|S100A13_uc009woh.2_Missense_Mutation_p.D92H|S100A13_uc001fch.2_Missense_Mutation_p.D92H|S100A13_uc001fci.2_Missense_Mutation_p.D92H|S100A13_uc001fcj.2_Missense_Mutation_p.D92H NM_001024213 NP_001019384 Q99584 S10AD_HUMAN S100 calcium binding protein A13 92 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) ATCTTCAGGTCTTTCTTCTTC 0.517 33 242 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156641286 156641286 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:156641286C>T uc001fpq.2 - 4 2827 c.2694G>A c.(2692-2694)TGG>TGA p.W898* NM_006617 NP_006608 P48681 NEST_HUMAN nestin 898 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTCCAGGTTCCATGCTCCCA 0.468 11 93 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158226844 158226844 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:158226844C>T uc001frt.2 + 4 1406 c.873C>T c.(871-873)GTC>GTT p.V291V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 291 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) AGGACATCGTCCTCTACTGGG 0.572 20 61 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158449733 158449733 + Missense_Mutation SNP G T T rs146148080 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:158449733G>T uc010pik.1 + 1 66 c.66G>T c.(64-66)TTG>TTT p.L22F uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TGCAGATCTTGGCAGAAAACC 0.363 42 177 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158449734 158449734 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:158449734G>T uc010pik.1 + 1 67 c.67G>T c.(67-69)GCA>TCA p.A23S uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GCAGATCTTGGCAGAAAACCT 0.363 42 176 --- --- --- --- PASS NCSTN 23385 broad.mit.edu 37 1 160323932 160323932 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:160323932G>C uc001fvx.2 + 11 1328 c.1204G>C c.(1204-1206)GAG>CAG p.E402Q NCSTN_uc001fvy.2_Missense_Mutation_p.E382Q|NCSTN_uc010pjf.1_Missense_Mutation_p.E264Q|NCSTN_uc001fvz.2_Missense_Mutation_p.E182Q|NCSTN_uc010pjg.1_Missense_Mutation_p.E144Q NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 402 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCCACATTGGAGAAGAGTGG 0.567 7 54 --- --- --- --- PASS B4GALT3 8703 broad.mit.edu 37 1 161141748 161141748 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:161141748C>T uc001fyq.1 - 8 1302 c.1040G>A c.(1039-1041)CGG>CAG p.R347Q PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.R127Q|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.R347Q|B4GALT3_uc001fys.1_Missense_Mutation_p.R347Q NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 347 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CCGAGGACCCCGAGGGTCAGT 0.607 34 70 --- --- --- --- PASS UHMK1 127933 broad.mit.edu 37 1 162469927 162469927 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:162469927C>T uc001gcc.1 + 2 587 c.451C>T c.(451-453)CAT>TAT p.H151Y UHMK1_uc001gcb.1_Missense_Mutation_p.H77Y|UHMK1_uc009wuu.1_Missense_Mutation_p.H151Y NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 151 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTTCTTCATCATGAGGGCTA 0.433 25 103 --- --- --- --- PASS POGK 57645 broad.mit.edu 37 1 166818626 166818626 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:166818626C>G uc001gdt.1 + 5 930 c.810C>G c.(808-810)GTC>GTG p.V270V POGK_uc010ple.1_Silent_p.V185V|POGK_uc010plf.1_Silent_p.V152V NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 270 HTH CENPB-type. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 CCGAATATGTCAGATACATGC 0.572 11 77 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172526451 172526451 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:172526451G>C uc001giq.3 + 5 791 c.475G>C c.(475-477)GCC>CCC p.A159P C1orf9_uc010pmm.1_Missense_Mutation_p.A159P|C1orf9_uc009wwd.2_Missense_Mutation_p.A122P|C1orf9_uc010pmn.1_Missense_Mutation_p.A122P|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 159 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) TATTCCGATAGCCAAACCAAG 0.358 25 195 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185269418 185269418 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:185269418C>G uc001grl.2 - 12 1923 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q IVNS1ABP_uc001gri.2_Missense_Mutation_p.E94Q|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E94Q|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E216Q|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E94Q NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 434 Kelch 2. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TCATACATCTCTCCACAACTC 0.413 5 49 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185270191 185270191 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:185270191C>T uc001grl.2 - 10 1656 c.1033G>A c.(1033-1035)GAG>AAG p.E345K IVNS1ABP_uc001gri.2_Missense_Mutation_p.E5K|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E5K|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E127K|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E5K NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 345 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TCGATTAGCTCATCTTGTTGC 0.438 15 133 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197019883 197019883 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:197019883C>A uc001gtt.1 - 10 1726 c.1682G>T c.(1681-1683)GGA>GTA p.G561V NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 561 Sushi 9. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTCCCTAGATCCTTCTAGGAA 0.353 23 71 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390763 197390763 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:197390763A>T uc001gtz.2 + 6 1940 c.1805A>T c.(1804-1806)GAT>GTT p.D602V CRB1_uc010poz.1_Missense_Mutation_p.D533V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.D490V|CRB1_uc010ppb.1_Missense_Mutation_p.D602V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D83V|CRB1_uc001gub.1_Missense_Mutation_p.D251V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 602 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTTGAAAGTGATCAATCAATA 0.438 55 132 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197479678 197479678 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:197479678T>C uc010ppe.1 - 22 2518 c.2180A>G c.(2179-2181)CAT>CGT p.H727R DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 CACTACTTCATGGAGCAGTCC 0.408 37 69 --- --- --- --- PASS CAMSAP1L1 23271 broad.mit.edu 37 1 200822482 200822482 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:200822482C>T uc001gvl.2 + 14 3985 c.3715C>T c.(3715-3717)CGG>TGG p.R1239W CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R1228W|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R1212W NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1239 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 ATATATGAGGCGGAAACAACT 0.368 4 88 --- --- --- --- PASS PPP1R12B 4660 broad.mit.edu 37 1 202464542 202464542 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:202464542C>T uc001gya.1 + 16 2411 c.2267C>T c.(2266-2268)TCA>TTA p.S756L PPP1R12B_uc001gxz.1_Missense_Mutation_p.S756L|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 756 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) AATAGATTTTCAGTCCCTGAT 0.478 8 114 --- --- --- --- PASS PPP1R12B 4660 broad.mit.edu 37 1 202464554 202464554 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:202464554C>A uc001gya.1 + 16 2423 c.2279C>A c.(2278-2280)TCT>TAT p.S760Y PPP1R12B_uc001gxz.1_Missense_Mutation_p.S760Y|PPP1R12B_uc001gyb.1_Translation_Start_Site|PPP1R12B_uc001gyc.1_Translation_Start_Site NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 760 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GTCCCTGATTCTGAGAGTTCA 0.468 9 101 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206566940 206566940 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:206566940C>G uc001hdy.2 + 4 813 c.480C>G c.(478-480)ATC>ATG p.I160M SRGAP2_uc009xbt.2_Missense_Mutation_p.I84M|SRGAP2_uc010prt.1_Missense_Mutation_p.I84M|SRGAP2_uc001hdx.2_Missense_Mutation_p.I160M|SRGAP2_uc010pru.1_Missense_Mutation_p.I84M|SRGAP2_uc010prv.1_Missense_Mutation_p.I84M NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 247 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) TGAAGGCCATCAAAGCCCGGA 0.423 3 81 --- --- --- --- PASS LAMB3 3914 broad.mit.edu 37 1 209791921 209791921 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:209791921G>A uc001hhg.2 - 18 3175 c.2785C>T c.(2785-2787)CTG>TTG p.L929L LAMB3_uc009xco.2_Silent_p.L929L|LAMB3_uc001hhh.2_Silent_p.L929L NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 929 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ATCTTCTGCAGAACAGTAGCT 0.607 11 85 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215822039 215822039 + Missense_Mutation SNP C T T rs147532612 byFrequency TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:215822039C>T uc001hku.1 - 66 14800 c.14413G>A c.(14413-14415)GTA>ATA p.V4805I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4805 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) CAGGCCTCTACTCCAATAGAG 0.542 HNSCC(13;0.011) 30 56 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216373226 216373226 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:216373226G>T uc001hku.1 - 17 3941 c.3554C>A c.(3553-3555)TCC>TAC p.S1185Y USH2A_uc001hkv.2_Missense_Mutation_p.S1185Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1185 Extracellular (Potential).|Fibronectin type-III 2. 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) AGGGGCACAGGACAAAATATA 0.428 HNSCC(13;0.011) 49 169 --- --- --- --- PASS GPATCH2 55105 broad.mit.edu 37 1 217665061 217665061 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:217665061C>G uc001hlf.1 - 8 1334 c.1238G>C c.(1237-1239)AGA>ACA p.R413T GPATCH2_uc009xdq.1_RNA NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 413 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) CTTGTGTCCTCTTTCAGCTCG 0.313 18 97 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222802391 222802391 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:222802391C>T uc001hnl.2 + 4 1838 c.1829C>T c.(1828-1830)TCA>TTA p.S610L MIA3_uc009xea.1_Missense_Mutation_p.S446L NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 610 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CACACGCTTTCAGTGGAGCAT 0.478 18 163 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223177892 223177892 + Missense_Mutation SNP C A A rs111796312 byFrequency TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:223177892C>A uc001hnu.1 + 8 3300 c.3153C>A c.(3151-3153)GAC>GAA p.D1051E NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1051 Helical; (Potential). diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TGTCTGTAGACTTTGCCGTCC 0.542 63 128 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223177893 223177893 + Missense_Mutation SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:223177893T>G uc001hnu.1 + 8 3301 c.3154T>G c.(3154-3156)TTT>GTT p.F1052V NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1052 Helical; (Potential). diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GTCTGTAGACTTTGCCGTCCA 0.537 62 129 --- --- --- --- PASS LBR 3930 broad.mit.edu 37 1 225600282 225600282 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:225600282G>A uc001hoy.2 - 8 1101 c.958C>T c.(958-960)CAT>TAT p.H320Y LBR_uc001hoz.2_Missense_Mutation_p.H320Y|LBR_uc001hpa.1_Missense_Mutation_p.H320Y NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 320 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TACACGTAATGAAACTCTACG 0.408 15 84 --- --- --- --- PASS C1orf55 163859 broad.mit.edu 37 1 226175869 226175869 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:226175869C>G uc001hpu.3 - 6 915 c.862G>C c.(862-864)GAC>CAC p.D288H C1orf55_uc001hpv.2_Missense_Mutation_p.D288H NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 288 lung(1) 1 Breast(184;0.197) CTCCCAGAGTCAGTCACCGGG 0.507 24 211 --- --- --- --- PASS MRPL55 128308 broad.mit.edu 37 1 228295503 228295503 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:228295503G>A uc001hry.2 - 2 838 c.94C>T c.(94-96)CGA>TGA p.R32* MRPL55_uc001hrz.3_Nonsense_Mutation_p.R68*|MRPL55_uc009xex.2_Nonsense_Mutation_p.R32*|MRPL55_uc001hsa.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsb.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsc.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsd.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hse.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsf.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsg.3_Nonsense_Mutation_p.R32* NM_181465 NP_852130 Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 isoform a 32 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1) 1 Prostate(94;0.0405) CTGTCAGCTCGCCAGGAGGAT 0.627 17 65 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228400408 228400408 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:228400408C>G uc009xez.1 + 2 968 c.924C>G c.(922-924)CTC>CTG p.L308L OBSCN_uc001hsn.2_Silent_p.L308L|uc001hsm.1_RNA NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 308 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACCGCGGCCTCTACACCTGCA 0.682 4 38 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229567525 229567525 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:229567525G>A uc001htm.2 - 6 1038 c.933C>T c.(931-933)ATC>ATT p.I311I NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 311 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) TGCGGTCAGCGATCCCAGGGT 0.602 14 114 --- --- --- --- PASS COG2 22796 broad.mit.edu 37 1 230795272 230795272 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:230795272G>A uc001htw.2 + 2 286 c.135G>A c.(133-135)CTG>CTA p.L45L COG2_uc001htx.2_Silent_p.L45L|COG2_uc010pwc.1_5'UTR NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 45 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TGGAAGAACTGAGAGATGACC 0.383 11 148 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232551265 232551265 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:232551265G>C uc001hvg.2 - 17 4895 c.4737C>G c.(4735-4737)CTC>CTG p.L1579L SIPA1L2_uc001hvf.2_Silent_p.L653L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1579 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CAGCATCCACGAGGTGGGTCC 0.582 21 96 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234569206 234569206 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:234569206G>C uc001hwd.2 - 14 2344 c.2344C>G c.(2344-2346)CTT>GTT p.L782V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 782 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) TTTTTCAAAAGAGAAATAACT 0.398 17 110 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237806719 237806719 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:237806719C>G uc001hyl.1 + 48 7434 c.7314C>G c.(7312-7314)ATC>ATG p.I2438M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2438 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) TTATCAGCATCGCTTTTCAGA 0.438 27 130 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246811316 246811316 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:246811316G>C uc001ibp.2 + 9 2191 c.1813G>C c.(1813-1815)GCC>CCC p.A605P CNST_uc001ibo.3_Missense_Mutation_p.A605P NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 605 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 TGATGATCTTGCCAAAAGGAT 0.368 7 160 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247615256 247615256 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:247615256C>A uc010pyx.1 - 1 29 c.29G>T c.(28-30)GGG>GTG p.G10V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGGGGAGTCCCCTAAGAAGCT 0.483 39 81 --- --- --- --- PASS C1orf150 148823 broad.mit.edu 37 1 247737523 247737523 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:247737523A>G uc001idf.2 + 5 292 c.247A>G c.(247-249)AGC>GGC p.S83G C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 83 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;0.0241) ATCCTCCCTGAGCTCCAATGA 0.453 19 113 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004481 248004481 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:248004481T>A uc001idn.1 - 1 718 c.718A>T c.(718-720)ACA>TCA p.T240S NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGCCACATGTGGAAAAGGTC 0.493 27 67 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039238 248039238 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:248039238G>T uc001ido.2 + 6 956 c.908G>T c.(907-909)AGT>ATT p.S303I OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 303 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCGCACCCGAGTCTGCTCTTG 0.562 14 67 --- --- --- --- PASS SH3BP5L 80851 broad.mit.edu 37 1 249106336 249106336 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr1:249106336C>A uc001iew.1 - 7 1497 c.945G>T c.(943-945)GGG>GGT p.G315G SH3BP5L_uc010pzp.1_Silent_p.G208G|SH3BP5L_uc010pzq.1_Silent_p.G283G|SH3BP5L_uc001iev.1_Silent_p.G196G NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 315 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCTCCTCCAGCCCCGCACCCT 0.736 5 13 --- --- --- --- PASS CPSF3 51692 broad.mit.edu 37 2 9588382 9588382 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:9588382G>A uc002qzo.1 + 11 1333 c.1298G>A c.(1297-1299)CGA>CAA p.R433Q CPSF3_uc010ewx.1_Missense_Mutation_p.R384Q|CPSF3_uc002qzp.1_Missense_Mutation_p.R396Q|CPSF3_uc002qzq.1_Missense_Mutation_p.R10Q NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 433 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GCACTGATTCGAGAATATGAA 0.358 15 40 --- --- --- --- PASS TAF1B 9014 broad.mit.edu 37 2 9991696 9991696 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:9991696G>A uc002qzz.2 + 4 332 c.232G>A c.(232-234)GAA>AAA p.E78K TAF1B_uc010exc.2_Missense_Mutation_p.E78K|TAF1B_uc002qzy.3_Missense_Mutation_p.E78K|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 78 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTATGTGTGTGAAGGTTTCCA 0.343 27 127 --- --- --- --- PASS TAF1B 9014 broad.mit.edu 37 2 9991740 9991740 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:9991740G>C uc002qzz.2 + 4 376 c.276G>C c.(274-276)AAG>AAC p.K92N TAF1B_uc010exc.2_Missense_Mutation_p.K92N|TAF1B_uc002qzy.3_Missense_Mutation_p.K92N|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 92 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAGCCTTAAAGAACCTTGGAG 0.343 23 115 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11706686 11706686 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:11706686G>A uc002rbk.1 + 4 658 c.358G>A c.(358-360)GTG>ATG p.V120M GREB1_uc002rbl.2_Missense_Mutation_p.V120M|GREB1_uc002rbm.2_Missense_Mutation_p.V10M|GREB1_uc002rbn.1_Missense_Mutation_p.V120M NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 120 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTTTCTCCTCGTGGGGGTCAA 0.597 39 114 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15415908 15415908 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:15415908C>G uc002rcc.1 - 44 5450 c.5424G>C c.(5422-5424)ATG>ATC p.M1808I NBAS_uc010exl.1_Missense_Mutation_p.M880I|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1808 ovary(2)|liver(1)|skin(1) 4 CAAGAGGACTCATGTTTTCAT 0.353 27 89 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24484607 24484607 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:24484607T>A uc002rfe.2 - 21 2618 c.2360A>T c.(2359-2361)GAT>GTT p.D787V ITSN2_uc002rff.2_Missense_Mutation_p.D760V|ITSN2_uc002rfg.2_Missense_Mutation_p.D787V NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 787 SH3 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTTTTTTCATCAACCTACGG 0.333 5 47 --- --- --- --- PASS TRMT61B 55006 broad.mit.edu 37 2 29092700 29092700 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:29092700C>T uc002rmm.2 - 1 476 c.444G>A c.(442-444)GAG>GAA p.E148E TRMT61B_uc002rmn.2_Silent_p.E148E|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 148 tRNA (adenine-N1-)-methyltransferase activity 0 GAAAGGGTCTCTCTCTGGAAG 0.493 12 57 --- --- --- --- PASS CAPN13 92291 broad.mit.edu 37 2 30987131 30987131 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:30987131T>C uc002rnn.2 - 6 742 c.566A>G c.(565-567)GAG>GGG p.E189G CAPN13_uc002rnp.1_Missense_Mutation_p.E189G NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 189 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) CAGGGCATCCTCGAGGAAGCC 0.587 9 23 --- --- --- --- PASS CDKL4 344387 broad.mit.edu 37 2 39411779 39411779 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:39411779C>G uc002rrm.2 - 7 745 c.745G>C c.(745-747)GAG>CAG p.E249Q CDKL4_uc010fal.1_Missense_Mutation_p.E249Q NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 249 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) AACTTTTCCTCAAGAGTTTCC 0.239 6 38 --- --- --- --- PASS EML4 27436 broad.mit.edu 37 2 42483655 42483655 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:42483655C>T uc002rsi.2 + 3 485 c.223C>T c.(223-225)CGA>TGA p.R75* EML4_uc002rsh.3_Nonsense_Mutation_p.R75*|EML4_uc010fap.2_Nonsense_Mutation_p.R75* NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 75 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 ACCAAGCCCTCGAGCAGTTAT 0.343 T ALK NSCLC 23 56 --- --- --- --- PASS MSH6 2956 broad.mit.edu 37 2 48026133 48026133 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:48026133G>A uc002rwd.3 + 4 1163 c.1011G>A c.(1009-1011)TTG>TTA p.L337L MSH6_uc002rwc.2_Silent_p.L337L|MSH6_uc010fbj.2_Silent_p.L35L|MSH6_uc010yoi.1_Silent_p.L207L|MSH6_uc010yoj.1_Silent_p.L35L NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 337 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGAATACTTTGAGAGCTTTCT 0.448 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 77 333 --- --- --- --- PASS KLRAQ1 129285 broad.mit.edu 37 2 48688336 48688336 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:48688336C>G uc002rwm.2 + 7 844 c.659C>G c.(658-660)TCA>TGA p.S220* KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.S220*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.S220*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.S174*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.S220*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.S220* NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 220 ovary(1) 1 GAATCCTTATCAATCATCAAT 0.294 45 146 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54856492 54856492 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:54856492G>C uc002rxu.2 + 14 2470 c.2221G>C c.(2221-2223)GAG>CAG p.E741Q SPTBN1_uc002rxv.1_Missense_Mutation_p.E741Q|SPTBN1_uc002rxx.2_Missense_Mutation_p.E728Q NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 741 Spectrin 5. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GAAGCGCCTGGAGGAGGCCTC 0.587 9 256 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55561844 55561844 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:55561844C>T uc002ryv.2 - 15 2955 c.2113G>A c.(2113-2115)GAA>AAA p.E705K CCDC88A_uc010yoz.1_Missense_Mutation_p.E705K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E705K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E607K|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 705 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 CTTCGCAGTTCTAAGTTTTCC 0.333 25 228 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55576656 55576656 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:55576656C>T uc002ryv.2 - 9 1722 c.880G>A c.(880-882)GAG>AAG p.E294K CCDC88A_uc010yoz.1_Missense_Mutation_p.E294K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E294K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E196K NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 294 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GTACAAACCTCTTGTTGCAGC 0.328 5 236 --- --- --- --- PASS SMEK2 57223 broad.mit.edu 37 2 55806830 55806830 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:55806830C>G uc002rzc.2 - 9 1828 c.1453G>C c.(1453-1455)GAC>CAC p.D485H SMEK2_uc002rzb.2_Missense_Mutation_p.D485H|SMEK2_uc002rzd.2_Missense_Mutation_p.D485H|SMEK2_uc002rza.2_Missense_Mutation_p.D361H NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 485 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCACATTTGTCTTCTGAAGTA 0.318 15 199 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61558465 61558465 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:61558465T>C uc002sbe.2 - 20 2898 c.2876A>G c.(2875-2877)GAT>GGT p.D959G NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 959 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TACCAAATTATCAAAGAAAAG 0.343 131 71 --- --- --- --- PASS PLEK 5341 broad.mit.edu 37 2 68608007 68608007 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:68608007C>G uc002sen.3 + 3 513 c.351C>G c.(349-351)TCC>TCG p.S117S PLEK_uc010fde.2_Silent_p.S117S NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 117 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CCAGGAGGTCCATTCGACTGC 0.458 84 217 --- --- --- --- PASS AAK1 22848 broad.mit.edu 37 2 69704048 69704048 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:69704048C>A uc002sfp.2 - 21 3260 c.2755G>T c.(2755-2757)GAC>TAC p.D919Y NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 919 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 GGAATAGGGTCAAACTCATCT 0.428 24 53 --- --- --- --- PASS C2orf7 84279 broad.mit.edu 37 2 73456011 73456011 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:73456011C>T uc002siy.2 - 4 426 c.358G>A c.(358-360)GAC>AAC p.D120N NM_032319 NP_115695 Q9BSG0 PADC1_HUMAN chromosome 2 open reading frame 7 precursor 120 PA. extracellular region 0 CTGTCATTGTCAACTGCGTTG 0.612 12 32 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73826595 73826595 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:73826595C>G uc002sje.1 + 19 11729 c.11618C>G c.(11617-11619)TCT>TGT p.S3873C ALMS1_uc002sjf.1_Missense_Mutation_p.S3829C|ALMS1_uc002sjh.1_Missense_Mutation_p.S3259C NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3871 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGCTCAAACTCTACTTTTTGC 0.303 27 378 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 76976038 76976038 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:76976038G>T uc002snr.2 - 4 1971 c.1556C>A c.(1555-1557)CCA>CAA p.P519Q LRRTM4_uc002snq.2_Missense_Mutation_p.P519Q NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 519 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CATGTGGTGTGGCATCTGGAT 0.458 18 35 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79348017 79348017 + Silent SNP G A A rs113485193 byFrequency TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:79348017G>A uc002snz.2 + 2 133 c.30G>A c.(28-30)CTG>CTA p.L10L REG1A_uc010ffx.1_Silent_p.L10L|REG1A_uc010ysd.1_Silent_p.L10L NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 10 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 ACTTCATGCTGATCTCCTGCC 0.463 16 126 --- --- --- --- PASS TCF7L1 83439 broad.mit.edu 37 2 85361184 85361184 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:85361184C>A uc002soy.2 + 2 369 c.295C>A c.(295-297)CGG>AGG p.R99R NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN HMG-box transcription factor TCF-3 99 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1)|central_nervous_system(1) 3 CCAGAAGCCGCGGGACTATTT 0.706 14 41 --- --- --- --- PASS KDM3A 55818 broad.mit.edu 37 2 86719209 86719209 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:86719209G>A uc002sri.3 + 26 4260 c.3933G>A c.(3931-3933)CTG>CTA p.L1311L KDM3A_uc010ytj.1_Silent_p.L1311L|KDM3A_uc010ytk.1_Silent_p.L1259L NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1311 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TTGCTATGCTGAAAGCCAGTG 0.393 13 76 --- --- --- --- PASS ACOXL 55289 broad.mit.edu 37 2 111542385 111542385 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:111542385G>A uc002tgr.3 + 3 376 c.152G>A c.(151-153)GGA>GAA p.G51E ACOXL_uc010fkc.2_Missense_Mutation_p.G51E|ACOXL_uc010yxk.1_Missense_Mutation_p.G51E NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 51 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ATGGCCACAGGAGTGAAGGTG 0.493 22 86 --- --- --- --- PASS TTL 150465 broad.mit.edu 37 2 113258796 113258796 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:113258796C>G uc002thu.2 + 4 662 c.483C>G c.(481-483)CTC>CTG p.L161L TTL_uc010fkm.1_5'Flank NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 161 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) AAGGCATTCTCATCTCCTCAG 0.443 T ETV6 ALL 13 94 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119732103 119732103 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:119732103C>G uc002tln.1 + 6 707 c.575C>G c.(574-576)TCG>TGG p.S192W MARCO_uc010yyf.1_Missense_Mutation_p.S114W NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 192 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CCAGGCCCCTCGGGACCCCAA 0.537 7 31 --- --- --- --- PASS PCDP1 200373 broad.mit.edu 37 2 120362833 120362833 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:120362833C>G uc002tmb.2 + 12 1335 c.243C>G c.(241-243)GAC>GAG p.D81E PCDP1_uc010yyq.1_Missense_Mutation_p.D211E NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 367 D -> G (in Ref. 2; BAG57111). cilium calmodulin binding 0 Colorectal(110;0.196) TCAGACAGGACATTCACGAAG 0.373 36 56 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520757 131520757 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:131520757C>A uc002trw.2 + 2 1302 c.1112C>A c.(1111-1113)ACC>AAC p.T371N FAM123C_uc010fmv.2_Missense_Mutation_p.T371N|FAM123C_uc010fms.1_Missense_Mutation_p.T371N|FAM123C_uc010fmt.1_Missense_Mutation_p.T371N|FAM123C_uc010fmu.1_Missense_Mutation_p.T371N NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 371 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GACACAGGCACCCCCAAGAGC 0.627 39 39 --- --- --- --- PASS ACMSD 130013 broad.mit.edu 37 2 135630170 135630170 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:135630170G>A uc002ttz.2 + 8 875 c.808G>A c.(808-810)GAT>AAT p.D270N ACMSD_uc002tua.2_Missense_Mutation_p.D212N|uc010zbe.1_Intron NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 270 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) TTTGGTTCATGATCCTCTGTC 0.507 44 57 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145156514 145156514 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:145156514A>T uc002tvu.2 - 8 2720 c.2240T>A c.(2239-2241)CTC>CAC p.L747H ZEB2_uc002tvv.2_Missense_Mutation_p.L741H|ZEB2_uc010zbm.1_Missense_Mutation_p.L718H|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L776H NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 747 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ACTGTTGTGGAGTTCTGCTAT 0.428 130 183 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163256909 163256909 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:163256909G>C uc002uch.1 - 10 2409 c.2197C>G c.(2197-2199)CTA>GTA p.L733V NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 733 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTGAGATGTAGACAAATGTCT 0.443 23 136 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173355770 173355770 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:173355770A>G uc002uhp.1 + 21 2901 c.2698A>G c.(2698-2700)AAG>GAG p.K900E ITGA6_uc010zdy.1_Missense_Mutation_p.K781E|ITGA6_uc002uho.1_Missense_Mutation_p.K900E|ITGA6_uc010fqm.1_Missense_Mutation_p.K531E NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 939 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CAACTCAAGAAAGAAACGGGA 0.313 102 107 --- --- --- --- PASS OLA1 29789 broad.mit.edu 37 2 174987919 174987919 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:174987919C>T uc002uih.2 - 7 903 c.717G>A c.(715-717)AAG>AAA p.K239K OLA1_uc002uii.2_Silent_p.K81K|OLA1_uc010fqq.2_Silent_p.K239K|OLA1_uc002uij.2_Silent_p.K81K|OLA1_uc002uik.2_Silent_p.K209K|OLA1_uc010fqr.2_Silent_p.K239K NM_013341 NP_037473 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 isoform 1 239 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding ovary(1)|breast(1) 2 ATTTGTTTTTCTTTCTAATGT 0.343 11 44 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179506971 179506971 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:179506971C>G uc010zfg.1 - 168 33071 c.32847G>C c.(32845-32847)CTG>CTC p.L10949L TTN_uc010zfh.1_Silent_p.L4644L|TTN_uc010zfi.1_Silent_p.L4577L|TTN_uc010zfj.1_Silent_p.L4452L|TTN_uc010fre.1_Silent_p.L827L|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11876 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) TACCGCTTTTCAGAACAACTT 0.328 2 8 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179588843 179588843 + Missense_Mutation SNP C A A rs148072021 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:179588843C>A uc010zfg.1 - 70 17635 c.17411G>T c.(17410-17412)CGA>CTA p.R5804L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2465L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6731 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) TTTCAGTCTTCGTGTGAAAGA 0.418 25 27 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179730515 179730515 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:179730515G>T uc002unf.1 - 7 1035 c.978C>A c.(976-978)GCC>GCA p.A326A NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 326 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CGTCTCTCATGGCGCAGTACT 0.522 181 222 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201436108 201436108 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:201436108C>G uc002uvw.2 + 7 1152 c.1039C>G c.(1039-1041)CAA>GAA p.Q347E SGOL2_uc010zhd.1_Missense_Mutation_p.Q347E|SGOL2_uc010zhe.1_Missense_Mutation_p.Q347E NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 347 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 GTGCATGAATCAAATTGAGGA 0.368 19 39 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201533380 201533380 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:201533380G>A uc002uvx.2 + 33 3753 c.3652G>A c.(3652-3654)GAG>AAG p.E1218K AOX1_uc010zhf.1_Missense_Mutation_p.E774K|AOX1_uc010fsu.2_Missense_Mutation_p.E584K NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1218 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTATACAATAGAGGAACTGAA 0.428 65 144 --- --- --- --- PASS C2orf62 375307 broad.mit.edu 37 2 219232573 219232573 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:219232573C>T uc002vhr.2 + 10 1079 c.1050C>T c.(1048-1050)TTC>TTT p.F350F C2orf62_uc002vhs.2_RNA|uc002vht.2_5'Flank NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 350 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGCCGAGTTCTTCGGCCCCT 0.701 30 29 --- --- --- --- PASS RQCD1 9125 broad.mit.edu 37 2 219457065 219457065 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:219457065C>T uc010zkh.1 + 6 579 c.579C>T c.(577-579)GAC>GAT p.D193D RQCD1_uc002vih.1_Silent_p.D193D|RQCD1_uc010zki.1_Silent_p.D225D NM_005444 NP_005435 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog 193 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(1)|skin(1) 2 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTTAGATGACACTGGTTTGG 0.378 74 141 --- --- --- --- PASS NDUFA10 4705 broad.mit.edu 37 2 240900568 240900568 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:240900568G>A uc002vyn.2 - 10 1115 c.1035C>T c.(1033-1035)ACC>ACT p.T345T NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 345 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) CTCCCACCTCGGTGTTGTACC 0.562 4 54 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13372064 13372064 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:13372064C>T uc003bxv.1 - 30 4089 c.4006G>A c.(4006-4008)GAG>AAG p.E1336K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1336 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AAGCCTTTCTCATCAACATGC 0.493 30 147 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13372096 13372096 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:13372096C>T uc003bxv.1 - 30 4057 c.3974G>A c.(3973-3975)GGA>GAA p.G1325E NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1325 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CTTTTCGGGTCCATCCAGGAC 0.512 24 113 --- --- --- --- PASS NR2C2 7182 broad.mit.edu 37 3 15062303 15062303 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:15062303C>G uc003bzj.3 + 5 637 c.420C>G c.(418-420)TTC>TTG p.F140L NR2C2_uc003bzi.2_Missense_Mutation_p.F159L NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 140 Nuclear receptor. cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 GCAAAGGTTTCTTCAAAAGGA 0.443 19 86 --- --- --- --- PASS GPD1L 23171 broad.mit.edu 37 3 32180216 32180216 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:32180216C>G uc003cew.2 + 3 423 c.363C>G c.(361-363)ATC>ATG p.I121M NM_015141 NP_055956 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 121 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity 0 TCACCCTCATCAAGGTAACTC 0.488 28 42 --- --- --- --- PASS SUSD5 26032 broad.mit.edu 37 3 33195066 33195066 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:33195066T>A uc003cfo.1 - 5 1476 c.1058A>T c.(1057-1059)AAG>ATG p.K353M NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 353 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 GCTGTCATTCTTGCCCACAAA 0.547 16 41 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37367039 37367039 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:37367039G>T uc003cgv.2 + 14 3966 c.3662G>T c.(3661-3663)TGT>TTT p.C1221F GOLGA4_uc010hgr.1_Missense_Mutation_p.C782F|GOLGA4_uc003cgw.2_Missense_Mutation_p.C1243F|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.C1102F NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1221 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GATATTTGCTGTAAGAAAACC 0.338 38 50 --- --- --- --- PASS ITGA9 3680 broad.mit.edu 37 3 37514854 37514854 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:37514854G>A uc003chd.2 + 3 376 c.323G>A c.(322-324)CGG>CAG p.R108Q ITGA9_uc003chc.2_Missense_Mutation_p.R108Q NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 108 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGGAAGAATCGGGGCACGTCC 0.567 24 32 --- --- --- --- PASS ITGA9 3680 broad.mit.edu 37 3 37514855 37514855 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:37514855G>T uc003chd.2 + 3 377 c.324G>T c.(322-324)CGG>CGT p.R108R ITGA9_uc003chc.2_Silent_p.R108R NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 108 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGAAGAATCGGGGCACGTCCT 0.567 24 32 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42730526 42730526 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:42730526G>T uc003clv.1 + 4 1687 c.1587G>T c.(1585-1587)GTG>GTT p.V529V NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 529 Kelch 4. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTGCCGAAGTGTACAGCATCA 0.582 18 34 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48682912 48682912 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:48682912G>A uc003cul.2 - 24 8042 c.7761C>T c.(7759-7761)CTC>CTT p.L2587L CELSR3_uc003cuf.1_Silent_p.L2657L|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.L570L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2587 Helical; Name=2; (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCAGGAAGAGGAGCTCTGCCA 0.632 9 80 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48682972 48682972 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:48682972G>C uc003cul.2 - 24 7982 c.7701C>G c.(7699-7701)CTC>CTG p.L2567L CELSR3_uc003cuf.1_Silent_p.L2637L|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.L550L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2567 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CATTGGACTTGAGGCTGCGCA 0.637 4 56 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49694176 49694176 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:49694176G>A uc003cxe.3 + 5 7301 c.7187G>A c.(7186-7188)CGG>CAG p.R2396Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2396 Potential. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GAGCTAGAGCGGGAACGTGTG 0.627 4 8 --- --- --- --- PASS SEMA3B 7869 broad.mit.edu 37 3 50310865 50310865 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:50310865G>A uc003cyu.2 + 9 1043 c.801G>A c.(799-801)CAG>CAA p.Q267Q SEMA3B_uc010hlh.1_RNA|SEMA3B_uc003cyt.2_Silent_p.Q267Q|SEMA3B_uc003cyv.2_Silent_p.Q154Q|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Silent_p.Q154Q|SEMA3B_uc003cyx.2_Silent_p.Q154Q|SEMA3B_uc003cyy.2_5'UTR|SEMA3B_uc011bdo.1_Intron NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 267 Sema. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCGTTGGCCAGATCTGCCGGG 0.662 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 70 --- --- --- --- PASS SEMA3G 56920 broad.mit.edu 37 3 52476875 52476875 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:52476875G>C uc003dea.1 - 2 164 c.164C>G c.(163-165)TCC>TGC p.S55C NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 55 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GAGGTTCAGGGAGCCCTGGGG 0.622 4 27 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52692308 52692308 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:52692308C>G uc003des.2 - 5 564 c.552G>C c.(550-552)GAG>GAC p.E184D PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E184D|PBRM1_uc003der.2_Missense_Mutation_p.E184D|PBRM1_uc003det.2_Missense_Mutation_p.E184D|PBRM1_uc003deu.2_Missense_Mutation_p.E184D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E184D|PBRM1_uc010hmk.1_Missense_Mutation_p.E184D|PBRM1_uc003dey.2_Missense_Mutation_p.E184D|PBRM1_uc003dez.1_Missense_Mutation_p.E184D|PBRM1_uc003dfb.1_Missense_Mutation_p.E82D NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 184 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GCTCCAGGATCTCCTTCAAGT 0.373 Mis|N|F|S|D|O clear cell renal carcinoma|breast 7 59 --- --- --- --- PASS CCDC66 285331 broad.mit.edu 37 3 56627033 56627033 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:56627033G>C uc003dhz.2 + 8 1059 c.972G>C c.(970-972)GTG>GTC p.V324V CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.V290V|CCDC66_uc003dhx.2_RNA NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 324 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TCAGTGCTGTGAAACAAGAAC 0.338 35 144 --- --- --- --- PASS FHIT 2272 broad.mit.edu 37 3 60522645 60522645 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:60522645G>C uc003dkx.3 - 5 422 c.51C>G c.(49-51)CTC>CTG p.L17L FHIT_uc003dky.2_Silent_p.L17L|FHIT_uc010hnn.1_Silent_p.L17L NM_002012 NP_002003 P49789 FHIT_HUMAN fragile histidine triad gene 17 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding 0 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) GTTCTGTTTTGAGAAACACTA 0.383 T HMGA2 pleomorphic salivary gland adenoma Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 20 31 --- --- --- --- PASS TMF1 7110 broad.mit.edu 37 3 69075232 69075232 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:69075232G>T uc003dnn.2 - 14 3021 c.2774C>A c.(2773-2775)TCT>TAT p.S925Y TMF1_uc011bfx.1_Missense_Mutation_p.S928Y NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 925 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GCTAGAAACAGAAAATGGCTT 0.383 7 58 --- --- --- --- PASS FOXP1 27086 broad.mit.edu 37 3 71008498 71008498 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:71008498G>T uc003dol.2 - 17 2257 c.1934C>A c.(1933-1935)GCT>GAT p.A645D FOXP1_uc003dom.2_Missense_Mutation_p.A569D|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A644D|FOXP1_uc003dop.2_Missense_Mutation_p.A645D|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A545D|FOXP1_uc003doj.2_Missense_Mutation_p.A545D|FOXP1_uc003dok.2_Missense_Mutation_p.A458D NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 645 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGGCCCTTCAGCTTCCTCTGG 0.502 T PAX5 ALL 47 63 --- --- --- --- PASS GXYLT2 727936 broad.mit.edu 37 3 72957687 72957687 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:72957687C>G uc003dpg.2 + 2 445 c.445C>G c.(445-447)CTG>GTG p.L149V NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 149 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 TGAAGACTCTCTGAAGCCCGA 0.443 16 20 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78795913 78795913 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:78795913C>T uc003dqe.2 - 5 845 c.637G>A c.(637-639)GAT>AAT p.D213N ROBO1_uc003dqb.2_Missense_Mutation_p.D174N|ROBO1_uc003dqc.2_Missense_Mutation_p.D174N|ROBO1_uc003dqd.2_Missense_Mutation_p.D174N NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 213 Extracellular (Potential).|Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCATCTTTATCATCCAGTGGA 0.418 20 140 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868721 97868721 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:97868721C>G uc003dsg.1 + 1 492 c.492C>G c.(490-492)TTC>TTG p.F164L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 164 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GATTTTTATTCAGACTAACCT 0.338 33 205 --- --- --- --- PASS OR5K1 26339 broad.mit.edu 37 3 98189077 98189077 + Silent SNP C G G rs74372753 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:98189077C>G uc003dsm.2 + 1 657 c.657C>G c.(655-657)CTC>CTG p.L219L NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TATCTTATCTCTATATTCTTC 0.348 10 164 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108298180 108298180 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:108298180C>T uc003dxb.3 - 7 1035 c.766G>A c.(766-768)GAC>AAC p.D256N KIAA1524_uc003dxc.1_Missense_Mutation_p.D97N|KIAA1524_uc010hpw.1_Missense_Mutation_p.D97N NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 256 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 ATCAGTAGGTCAACTGAATAC 0.328 30 173 --- --- --- --- PASS PVRL3 25945 broad.mit.edu 37 3 110831075 110831075 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:110831075G>C uc003dxt.1 + 2 359 c.359G>C c.(358-360)AGA>ACA p.R120T PVRL3_uc003dxu.1_Missense_Mutation_p.R97T NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 120 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 TATCAGGGAAGAGTCTTGTTT 0.373 14 113 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113528274 113528274 + Nonstop_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:113528274G>C uc003eao.2 + 15 1920 c.1854G>C c.(1852-1854)TAG>TAC p.*618Y ATP6V1A_uc011bik.1_Nonstop_Mutation_p.*585Y NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 618 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 TTGAAGATTAGAAGCCTTGAA 0.393 9 79 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113761652 113761652 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:113761652G>C uc003eax.2 - 4 460 c.313C>G c.(313-315)CAA>GAA p.Q105E KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q83E|KIAA1407_uc011bip.1_Missense_Mutation_p.Q92E NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 105 ovary(2) 2 GCTAATTCTTGCTTAAGTTTG 0.363 42 128 --- --- --- --- PASS GSK3B 2932 broad.mit.edu 37 3 119562180 119562180 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:119562180G>A uc003edo.2 - 10 2100 c.1117C>T c.(1117-1119)CTG>TTG p.L373L GSK3B_uc003edn.2_Silent_p.L386L|GSK3B_uc003edm.2_Intron NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 373 axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) ATGGTAGCCAGAGGTGGATTA 0.413 6 77 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121207343 121207343 + Missense_Mutation SNP G A A rs149344067 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:121207343G>A uc003eee.3 - 16 4564 c.4435C>T c.(4435-4437)CCT>TCT p.P1479S POLQ_uc003eed.2_Missense_Mutation_p.P651S NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1479 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) CTTGTTTCAGGAACTGGAAGA 0.353 DNA_polymerases_(catalytic_subunits) 13 139 --- --- --- --- PASS EAF2 55840 broad.mit.edu 37 3 121591497 121591497 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:121591497G>A uc003een.2 + 5 697 c.598G>A c.(598-600)GAA>AAA p.E200K EAF2_uc003eeo.2_Missense_Mutation_p.E70K NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 200 Ser-rich.|Necessary for transactivation activity. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) CTCAGAAGATGAAGATTGCAA 0.398 17 169 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122255105 122255105 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:122255105C>G uc010hri.2 - 10 2240 c.2095G>C c.(2095-2097)GTG>CTG p.V699L PARP9_uc003eff.3_Missense_Mutation_p.V664L|PARP9_uc011bjs.1_Missense_Mutation_p.V664L|PARP9_uc003efg.2_Missense_Mutation_p.V244L|PARP9_uc003efi.2_Missense_Mutation_p.V664L|PARP9_uc003efh.2_Missense_Mutation_p.V699L|PARP9_uc003efj.2_Missense_Mutation_p.V664L NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 699 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) CTATGGCTCACAGGTTGCCTG 0.443 42 125 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122274371 122274371 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:122274371C>T uc010hri.2 - 4 897 c.752G>A c.(751-753)TGT>TAT p.C251Y PARP9_uc003eff.3_Missense_Mutation_p.C216Y|PARP9_uc011bjs.1_Missense_Mutation_p.C216Y|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.C216Y|PARP9_uc003efh.2_Missense_Mutation_p.C251Y|PARP9_uc003efj.2_Missense_Mutation_p.C216Y NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 251 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) AGTCTTTGTACACAAATTCAG 0.383 11 179 --- --- --- --- PASS PARP14 54625 broad.mit.edu 37 3 122411176 122411176 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:122411176C>G uc003efq.3 + 4 443 c.384C>G c.(382-384)CTC>CTG p.L128L NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) ATACAAAACTCCCTCTTGATG 0.368 21 102 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124748078 124748078 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:124748078C>T uc003ehs.3 - 2 639 c.571G>A c.(571-573)GAG>AAG p.E191K HEG1_uc011bke.1_Missense_Mutation_p.E191K NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 191 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding p.E191E(1) ovary(2) 2 GTTGCTATCTCCAGTGAGTAC 0.478 6 45 --- --- --- --- PASS OSBPL11 114885 broad.mit.edu 37 3 125257330 125257330 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:125257330C>T uc003eic.2 - 11 2726 c.1989G>A c.(1987-1989)GTG>GTA p.V663V NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 663 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 CCAGAGGTCTCACTCTTTTCT 0.353 12 394 --- --- --- --- PASS ZXDC 79364 broad.mit.edu 37 3 126180755 126180755 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:126180755G>A uc003eiv.2 - 6 1804 c.1750C>T c.(1750-1752)CTC>TTC p.L584F ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.L584F NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 584 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) GCTGTCCCGAGAACCAGAGGG 0.597 14 163 --- --- --- --- PASS MCM2 4171 broad.mit.edu 37 3 127327758 127327758 + Silent SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:127327758A>G uc003ejp.2 + 8 1377 c.1320A>G c.(1318-1320)CTA>CTG p.L440L MCM2_uc011bkm.1_Silent_p.L310L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L324L NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 440 cell cycle checkpoint|DNA strand elongation involved in DNA replication|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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CTGTCATCCTAGCCAACCACG 0.527 66 167 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129286443 129286443 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:129286443G>A uc003emx.2 - 22 4078 c.3978C>T c.(3976-3978)TTC>TTT p.F1326F PLXND1_uc011blb.1_5'UTR NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1326 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GCAGCTCAGCGAAGCCTGGCG 0.622 3 55 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129389306 129389306 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:129389306C>G uc003emz.3 - 5 1879 c.1378G>C c.(1378-1380)GAT>CAT p.D460H TMCC1_uc003emy.3_Missense_Mutation_p.D136H|TMCC1_uc011blc.1_Missense_Mutation_p.D281H|TMCC1_uc010htg.2_Missense_Mutation_p.D346H NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 460 Potential. integral to membrane skin(1) 1 AGTAGTGCATCAAATCCTGAG 0.517 20 199 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130293257 130293257 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:130293257C>T uc010htl.2 + 7 3466 c.3435C>T c.(3433-3435)CTC>CTT p.L1145L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1145 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ACCAGCAGCTCATTCAGATCA 0.532 7 99 --- --- --- --- PASS ACAD11 84129 broad.mit.edu 37 3 132324026 132324026 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:132324026G>A uc003eov.3 - 12 1818 c.1438C>T c.(1438-1440)CAC>TAC p.H480Y ACAD11_uc011blr.1_Missense_Mutation_p.H91Y NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 480 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CCATACAGGTGCAGAACCTCC 0.393 32 104 --- --- --- --- PASS SRPRB 58477 broad.mit.edu 37 3 133525544 133525544 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:133525544C>T uc003epx.1 + 2 262 c.246C>T c.(244-246)GTC>GTT p.V82V NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 82 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 TGCTCTTTGTCAGGGTAAATG 0.408 16 129 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136117636 136117636 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:136117636C>T uc003era.1 - 22 2524 c.2232G>A c.(2230-2232)TCG>TCA p.S744S STAG1_uc003erb.1_Silent_p.S744S|STAG1_uc003erc.1_Silent_p.S518S NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 744 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 GCCAAAGAATCGAATAATGGG 0.328 4 97 --- --- --- --- PASS ARMC8 25852 broad.mit.edu 37 3 138009477 138009477 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:138009477G>A uc003esa.1 + 22 2309 c.1942G>A c.(1942-1944)GAC>AAC p.D648N TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.D631N|ARMC8_uc011bmg.1_Missense_Mutation_p.D595N|ARMC8_uc011bmh.1_Missense_Mutation_p.D589N|ARMC8_uc003esb.1_Missense_Mutation_p.D620N|ARMC8_uc003esc.1_Missense_Mutation_p.D420N|ARMC8_uc003esf.1_Missense_Mutation_p.D231N NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 662 ARM 14. binding 0 AAACCTTTGTGACAAGTGAGT 0.393 3 16 --- --- --- --- PASS MRAS 22808 broad.mit.edu 37 3 138117390 138117390 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:138117390G>C uc003esh.3 + 4 988 c.427G>C c.(427-429)GAA>CAA p.E143Q MRAS_uc011bmi.1_Missense_Mutation_p.E67Q|MRAS_uc003esi.3_Missense_Mutation_p.E143Q|MRAS_uc011bmj.1_Missense_Mutation_p.E67Q NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 143 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCAAGGAAAAGAAATGGCGAC 0.507 30 127 --- --- --- --- PASS PIK3CB 5291 broad.mit.edu 37 3 138433508 138433508 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:138433508G>A uc011bmq.1 - 7 1104 c.1104C>T c.(1102-1104)ATC>ATT p.I368I PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_5'UTR NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 368 C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CTGAGCTTACGATGGTTTTAC 0.373 32 296 --- --- --- --- PASS GK5 256356 broad.mit.edu 37 3 141900354 141900354 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:141900354C>A uc003euq.1 - 11 1128 c.997G>T c.(997-999)GAA>TAA p.E333* GK5_uc003eup.1_Nonsense_Mutation_p.E54*|GK5_uc010hus.1_RNA NM_001039547 NP_001034636 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 333 glycerol metabolic process ATP binding|glycerol kinase activity 0 GCATTGCTTTCAGCTAAGCAT 0.378 14 156 --- --- --- --- PASS PCOLCE2 26577 broad.mit.edu 37 3 142542385 142542385 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:142542385G>C uc003evd.2 - 7 1134 c.938C>G c.(937-939)TCA>TGA p.S313* NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 313 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 AAAGTCACTTGAACAATAATT 0.393 20 185 --- --- --- --- PASS SR140 23350 broad.mit.edu 37 3 142735215 142735215 + Splice_Site SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:142735215T>G uc003evh.1 + 5 535 c.436_splice c.e5+2 p.E146_splice SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.E146_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.E146_splice NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein RNA processing nucleus nucleotide binding|RNA binding 0 CAGCTAAAGGTAAGTTTATAA 0.373 12 162 --- --- --- --- PASS TM4SF1 4071 broad.mit.edu 37 3 149089577 149089577 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:149089577G>C uc003exb.1 - 4 725 c.491C>G c.(490-492)TCT>TGT p.S164C TM4SF1_uc003exc.1_Missense_Mutation_p.S75C NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 164 Helical; (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CAAGAGGATAGAAAACAGAGA 0.433 6 202 --- --- --- --- PASS GPR87 53836 broad.mit.edu 37 3 151012303 151012303 + Nonsense_Mutation SNP G C C rs79475431 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:151012303G>C uc003eyt.2 - 3 1092 c.731C>G c.(730-732)TCA>TGA p.S244* MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 244 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTTTCGGCTTGACTGACTTAT 0.433 7 139 --- --- --- --- PASS P2RY12 64805 broad.mit.edu 37 3 151056472 151056472 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:151056472C>G uc003eyw.1 - 2 378 c.162G>C c.(160-162)CGG>CGC p.R54R MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Silent_p.R54R|P2RY12_uc003eyx.1_Silent_p.R54R NM_176876 NP_795345 Q9H244 P2Y12_HUMAN purinergic receptor P2Y12 54 Cytoplasmic (Potential). platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) TTGATTTACTCCGGATTTGAA 0.378 13 84 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151458563 151458563 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:151458563C>G uc003ezc.2 + 2 388 c.268C>G c.(268-270)CCA>GCA p.P90A AADACL2_uc010hvn.2_Intron NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 90 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TGTTGACATTCCAGTACGATT 0.378 13 189 --- --- --- --- PASS SGEF 26084 broad.mit.edu 37 3 153943771 153943771 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:153943771G>A uc011bog.1 + 11 2273 c.2062G>A c.(2062-2064)GAT>AAT p.D688N SGEF_uc011boh.1_Missense_Mutation_p.D688N|SGEF_uc011boi.1_5'UTR NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 688 PH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCTCTTTAACGATGTGCTCAT 0.398 7 110 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154834285 154834285 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:154834285A>G uc010hvr.1 + 5 587 c.376A>G c.(376-378)AAA>GAA p.K126E MME_uc003fab.1_Missense_Mutation_p.K126E|MME_uc003fac.1_Missense_Mutation_p.K126E|MME_uc003fad.1_Missense_Mutation_p.K126E|MME_uc003fae.1_Missense_Mutation_p.K126E NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 126 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCAAGAACCCAAAACTGAAGA 0.318 20 94 --- --- --- --- PASS CCNL1 57018 broad.mit.edu 37 3 156867907 156867907 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:156867907C>T uc003fbf.2 - 7 1425 c.826G>A c.(826-828)GAG>AAG p.E276K CCNL1_uc003fbd.1_Missense_Mutation_p.E276K|CCNL1_uc003fbe.2_Missense_Mutation_p.E70K|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.E121K NM_020307 NP_064703 Q9UK58 CCNL1_HUMAN cyclin L1 276 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding lung(3)|breast(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) TGGATTTCCTCTTCTGTAGTA 0.358 6 148 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906446 164906446 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:164906446G>C uc003fej.3 - 2 2617 c.2173C>G c.(2173-2175)CCA>GCA p.P725A SLITRK3_uc003fek.2_Missense_Mutation_p.P725A NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 725 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GAAAGAGTTGGTCGaccacca 0.453 HNSCC(40;0.11) 60 69 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172098776 172098776 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:172098776G>A uc003fhy.2 + 25 3368 c.3196G>A c.(3196-3198)GAA>AAA p.E1066K FNDC3B_uc003fhz.3_Missense_Mutation_p.E1066K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1066 Fibronectin type-III 9. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AACACAGTTAGAAGGAAATTC 0.373 8 310 --- --- --- --- PASS FXR1 8087 broad.mit.edu 37 3 180671549 180671549 + Splice_Site SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:180671549G>A uc003fkq.2 + 9 824 c.802_splice c.e9-1 p.S268_splice FXR1_uc003fkp.2_Splice_Site_p.S183_splice|FXR1_uc003fkr.2_Splice_Site_p.S268_splice|FXR1_uc011bqj.1_Splice_Site_p.S182_splice|FXR1_uc003fks.2_Splice_Site_p.S182_splice|FXR1_uc011bqk.1_Splice_Site_p.S219_splice|FXR1_uc011bql.1_Splice_Site_p.S255_splice NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 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) CTCATCTACAGAGTGCTGATG 0.363 16 382 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183778074 183778074 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:183778074C>T uc003fmk.2 + 9 1312 c.1278C>T c.(1276-1278)CTC>CTT p.L426L NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 426 Helical; Name=4; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ACACCCTGCTCTTCCGCCTCT 0.577 20 497 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184039636 184039636 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:184039636G>C uc003fnp.2 + 10 1462 c.1264G>C c.(1264-1266)GAG>CAG p.E422Q EIF4G1_uc003fno.1_Missense_Mutation_p.E363Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.E258Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.E133Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E335Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E258Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E382Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E422Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E422Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E226Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E226Q NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 422 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) CAGTGAGCCAGAGGAGCAGGC 0.617 10 745 --- --- --- --- PASS RFC4 5984 broad.mit.edu 37 3 186512450 186512450 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:186512450G>C uc003fqz.2 - 5 630 c.407C>G c.(406-408)TCA>TGA p.S136* RFC4_uc011bsc.1_Nonsense_Mutation_p.S136*|RFC4_uc011bsd.1_Nonsense_Mutation_p.S136* NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 136 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TACTTACTCTGAGCGACTTCC 0.294 10 208 --- --- --- --- PASS ST6GAL1 6480 broad.mit.edu 37 3 186760494 186760494 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:186760494G>A uc003frb.2 + 4 435 c.3G>A c.(1-3)ATG>ATA p.M1I ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.M1I NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 1 Cytoplasmic. humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TCTTCATTATGATTCACACCA 0.398 97 616 --- --- --- --- PASS BCL6 604 broad.mit.edu 37 3 187449664 187449664 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:187449664G>A uc003frp.3 - 4 673 c.216C>T c.(214-216)ATC>ATT p.I72I BCL6_uc011bsf.1_Silent_p.I72I|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Silent_p.I72I NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 72 BTB. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GATCTAGATTGATCACACTAA 0.443 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 6 183 --- --- --- --- PASS TP63 8626 broad.mit.edu 37 3 189526204 189526204 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:189526204C>T uc003fry.2 + 4 557 c.468C>T c.(466-468)TTC>TTT p.F156F TP63_uc003frx.2_Silent_p.F156F|TP63_uc003frz.2_Silent_p.F156F|TP63_uc010hzc.1_Silent_p.F156F|TP63_uc003fsa.2_Silent_p.F62F|TP63_uc003fsb.2_Silent_p.F62F|TP63_uc003fsc.2_Silent_p.F62F|TP63_uc003fsd.2_Silent_p.F62F|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.F37F NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 156 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCTCCACCTTCGATGCTCTCT 0.627 Hay-Wells_syndrome HNSCC(45;0.13) 13 217 --- --- --- --- PASS TP63 8626 broad.mit.edu 37 3 189590662 189590662 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:189590662G>C uc003fry.2 + 10 1316 c.1227G>C c.(1225-1227)GAG>GAC p.E409D TP63_uc003frx.2_Missense_Mutation_p.E409D|TP63_uc003frz.2_Missense_Mutation_p.E409D|TP63_uc010hzc.1_Missense_Mutation_p.E409D|TP63_uc003fsa.2_Missense_Mutation_p.E315D|TP63_uc003fsb.2_Missense_Mutation_p.E315D|TP63_uc003fsc.2_Missense_Mutation_p.E315D|TP63_uc003fsd.2_Missense_Mutation_p.E315D|TP63_uc010hzd.1_Missense_Mutation_p.E230D NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 409 Oligomerization. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GGGGCCGTGAGACTTATGAAA 0.408 Hay-Wells_syndrome HNSCC(45;0.13) 8 194 --- --- --- --- PASS LEPREL1 55214 broad.mit.edu 37 3 189700892 189700892 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:189700892G>A uc011bsk.1 - 8 1655 c.1267C>T c.(1267-1269)CAT>TAT p.H423Y LEPREL1_uc003fsg.2_Missense_Mutation_p.H242Y NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 423 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GAGAATCCATGAACTTCTGCT 0.423 23 500 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193159353 193159353 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:193159353C>A uc003ftd.2 - 20 2449 c.2341G>T c.(2341-2343)GAA>TAA p.E781* ATP13A4_uc003fte.1_Nonsense_Mutation_p.E781*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.E252*|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 781 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCAGAGACTTCATCCCTGATG 0.378 21 298 --- --- --- --- PASS MFI2 4241 broad.mit.edu 37 3 196733571 196733571 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr3:196733571G>C uc003fxk.3 - 14 1900 c.1787C>G c.(1786-1788)TCA>TGA p.S596* NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 596 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) ATAGTCCTCTGACCTGAGCTC 0.612 10 113 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3418748 3418748 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:3418748C>T uc003ggw.2 + 8 3440 c.2536C>T c.(2536-2538)CAG>TAG p.Q846* RGS12_uc010ics.1_Nonsense_Mutation_p.Q45*|RGS12_uc003ggv.2_Nonsense_Mutation_p.Q846*|RGS12_uc003ggy.1_Nonsense_Mutation_p.Q244*|RGS12_uc010ict.1_Nonsense_Mutation_p.Q198*|RGS12_uc003ggz.2_Nonsense_Mutation_p.Q198*|RGS12_uc010icu.1_Nonsense_Mutation_p.Q45*|RGS12_uc011bvs.1_Nonsense_Mutation_p.Q188*|RGS12_uc003gha.2_Nonsense_Mutation_p.Q188*|RGS12_uc010icv.2_Nonsense_Mutation_p.Q45*|RGS12_uc003ghb.2_Nonsense_Mutation_p.Q45* NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 846 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGACTCGCAGCAGGTCCCCAG 0.612 30 41 --- --- --- --- PASS MAN2B2 23324 broad.mit.edu 37 4 6598903 6598903 + Missense_Mutation SNP G A A rs144033191 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:6598903G>A uc003gjf.1 + 8 1157 c.1121G>A c.(1120-1122)CGA>CAA p.R374Q MAN2B2_uc003gje.1_Missense_Mutation_p.R374Q|MAN2B2_uc011bwf.1_Missense_Mutation_p.R323Q NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 374 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 CTGGCCCGGCGAGCCAGCGCC 0.657 11 116 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8229027 8229027 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:8229027G>T uc003gkv.3 + 12 1707 c.1606G>T c.(1606-1608)GAG>TAG p.E536* SH3TC1_uc003gkw.3_Nonsense_Mutation_p.E460*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 536 binding large_intestine(2)|pancreas(1) 3 CTTCAGCGACGAGGAGGAGCT 0.687 6 20 --- --- --- --- PASS CPEB2 132864 broad.mit.edu 37 4 15060838 15060838 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:15060838G>C uc003gni.1 + 9 1360 c.1273G>C c.(1273-1275)GAT>CAT p.D425H CPEB2_uc003gnj.1_Missense_Mutation_p.D395H|CPEB2_uc003gnk.1_Missense_Mutation_p.D433H|CPEB2_uc003gnl.1_Missense_Mutation_p.D406H|CPEB2_uc003gnm.1_Missense_Mutation_p.D403H|CPEB2_uc003gnn.1_Missense_Mutation_p.D398H NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 425 regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 GAATTTAAGTGATAGTGATTT 0.373 17 100 --- --- --- --- PASS KLHL5 51088 broad.mit.edu 37 4 39122658 39122658 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:39122658G>A uc003gts.2 + 11 2315 c.2240G>A c.(2239-2241)GGA>GAA p.G747E KLHL5_uc003gtp.2_Missense_Mutation_p.G701E|KLHL5_uc003gtq.2_Missense_Mutation_p.G560E|KLHL5_uc003gtt.2_Missense_Mutation_p.G686E NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 747 Kelch 6. cytoplasm|cytoskeleton actin binding ovary(1) 1 GGAAGAGCTGGAGCTTGTGTT 0.358 17 81 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44449797 44449797 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:44449797G>A uc003gwu.2 - 1 1028 c.744C>T c.(742-744)TTC>TTT p.F248F NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 248 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GCGTGTCCCCGAAGACCTCCT 0.647 HNSCC(17;0.042) 10 18 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52883607 52883607 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:52883607A>G uc003gzi.2 - 1 186 c.173T>C c.(172-174)ATA>ACA p.I58T NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 58 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGTCTGTGATATGTCCACAGG 0.343 13 111 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55161433 55161433 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:55161433C>T uc003han.3 + 23 3595 c.3264C>T c.(3262-3264)TTC>TTT p.F1088F PDGFRA_uc003haa.2_Silent_p.F848F NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1088 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) AAGACAGCTTCCTGTAACTGG 0.512 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 13 156 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71508450 71508450 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:71508450C>G uc011caw.1 + 9 1588 c.1307C>G c.(1306-1308)CCA>CGA p.P436R NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 436 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) ATCCAAAATCCAAAGGAGAAG 0.448 12 88 --- --- --- --- PASS SCARB2 950 broad.mit.edu 37 4 77084496 77084496 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:77084496G>C uc003hju.1 - 11 1619 c.1280C>G c.(1279-1281)TCT>TGT p.S427C SCARB2_uc011cbu.1_Missense_Mutation_p.S284C NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 427 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) GTTAATCATAGACTTCAGTCG 0.408 29 116 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77662404 77662404 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:77662404G>A uc011cbx.1 + 5 4031 c.3078G>A c.(3076-3078)ATG>ATA p.M1026I SHROOM3_uc011cbz.1_Missense_Mutation_p.M850I|SHROOM3_uc003hkf.1_Missense_Mutation_p.M901I|SHROOM3_uc003hkg.2_Missense_Mutation_p.M804I NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1026 ASD1. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CCGAGAAGATGAACGAGGTGG 0.711 4 21 --- --- --- --- PASS BMP2K 55589 broad.mit.edu 37 4 79832756 79832756 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:79832756C>T uc003hlk.2 + 16 3221 c.3055C>T c.(3055-3057)CGC>TGC p.R1019C PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1019 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 AGAGAGGGCTCGCAGGCACAA 0.478 10 107 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84376570 84376570 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:84376570C>T uc003hom.2 - 1 456 c.277G>A c.(277-279)GAC>AAC p.D93N HELQ_uc010ikb.2_Missense_Mutation_p.D93N|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Intron|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Missense_Mutation_p.D93N|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 93 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 ACCCCTCTGTCAGTGGGCATG 0.532 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 21 187 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85664938 85664938 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:85664938C>T uc003hpd.2 - 37 6396 c.5988G>A c.(5986-5988)AGG>AGA p.R1996R NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1996 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCTTGTAGACCTTTCAGGGG 0.323 12 90 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88979148 88979148 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:88979148C>T uc003hre.2 + 9 1978 c.1912C>T c.(1912-1914)CGT>TGT p.R638C PKD2_uc011cdf.1_Missense_Mutation_p.R56C|PKD2_uc011cdg.1_Intron|PKD2_uc011cdh.1_Intron NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 638 Extracellular (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) CACTCAATTCCGTATCATTTT 0.313 9 71 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100510802 100510802 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:100510802C>G uc003hvc.3 + 5 652 c.396C>G c.(394-396)GTC>GTG p.V132V MTTP_uc011cej.1_Silent_p.V159V NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 132 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) CCCACCAGGTCAAAGAGTTCT 0.408 6 43 --- --- --- --- PASS MANBA 4126 broad.mit.edu 37 4 103553402 103553402 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:103553402C>G uc003hwg.2 - 17 2552 c.2452G>C c.(2452-2454)GAC>CAC p.D818H MANBA_uc011ces.1_Missense_Mutation_p.D761H NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 818 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GTCTCCAGGTCAAAAACAAAT 0.418 11 108 --- --- --- --- PASS LARP1B 55132 broad.mit.edu 37 4 129035746 129035746 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:129035746G>C uc003iga.2 + 10 1141 c.1010G>C c.(1009-1011)AGA>ACA p.R337T LARP1B_uc003ifz.1_Missense_Mutation_p.R337T|LARP1B_uc003igb.1_Missense_Mutation_p.R52T NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 337 RNA binding 0 AATTCTCCAAGAATTGGAAGC 0.343 16 44 --- --- --- --- PASS RBM46 166863 broad.mit.edu 37 4 155720158 155720158 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:155720158G>A uc003ioo.2 + 4 1017 c.844G>A c.(844-846)GAA>AAA p.E282K RBM46_uc011cim.1_Missense_Mutation_p.E282K|RBM46_uc003iop.1_Missense_Mutation_p.E282K NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 282 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) TTTCAACCGAGAAGATGCAGT 0.363 7 33 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164050300 164050300 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:164050300G>A uc003iqj.2 - 8 1428 c.1234C>T c.(1234-1236)CAG>TAG p.Q412* NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 412 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TTTTGTCTCTGAGAAGGAAAT 0.413 14 101 --- --- --- --- PASS NPY1R 4886 broad.mit.edu 37 4 164247167 164247167 + Silent SNP A C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:164247167A>C uc003iqm.1 - 2 806 c.540T>G c.(538-540)ACT>ACG p.T180T NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 180 Extracellular (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACGGCTCATCAGTCATTACTT 0.418 63 67 --- --- --- --- PASS ANP32C 23520 broad.mit.edu 37 4 165118229 165118229 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr4:165118229T>C uc011cjk.1 - 1 635 c.635A>G c.(634-636)GAT>GGT p.D212G MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 212 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) tacctctccatcgttataacc 0.030 29 19 --- --- --- --- PASS CCDC127 133957 broad.mit.edu 37 5 205636 205636 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:205636C>G uc003jam.1 - 3 659 c.559G>C c.(559-561)GAG>CAG p.E187Q NM_145265 NP_660308 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 187 0 all cancers(22;0.0236)|Lung(60;0.113) AAGCTCTTCTCTATCTCCAGC 0.517 10 195 --- --- --- --- PASS BRD9 65980 broad.mit.edu 37 5 865589 865589 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:865589G>A uc003jbq.2 - 15 1800 c.1633C>T c.(1633-1635)CGG>TGG p.R545W BRD9_uc003jbl.2_Missense_Mutation_p.R429W|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.R492W|BRD9_uc003jbo.2_Missense_Mutation_p.R449W NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 545 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GACGACGGCCGAGAGCCGCCG 0.652 9 176 --- --- --- --- PASS SLC12A7 10723 broad.mit.edu 37 5 1075584 1075584 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:1075584C>G uc003jbu.2 - 15 1935 c.1869G>C c.(1867-1869)ATG>ATC p.M623I NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 623 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGCACAGGCTCATACCCAGAA 0.642 12 66 --- --- --- --- PASS TERT 7015 broad.mit.edu 37 5 1264696 1264696 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:1264696C>T uc003jcb.1 - 11 2724 c.2666G>A c.(2665-2667)CGA>CAA p.R889Q TERT_uc003jbz.1_Missense_Mutation_p.R85Q|TERT_uc003jca.1_Missense_Mutation_p.R877Q|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 889 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGGGACACCTCGGACCAGGGT 0.577 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 10 243 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463329 5463329 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:5463329G>C uc003jdm.3 + 13 4104 c.3882G>C c.(3880-3882)ATG>ATC p.M1294I NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1294 ovary(1)|central_nervous_system(1) 2 ATAACAACATGACCACTGAGA 0.408 13 51 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11384923 11384923 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:11384923G>C uc003jfa.1 - 7 1176 c.1031C>G c.(1030-1032)TCG>TGG p.S344W CTNND2_uc010itt.2_Missense_Mutation_p.S253W|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 344 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTGGATGGGCGAGGAGGAGAT 0.672 6 46 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14488200 14488200 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:14488200C>G uc003jff.2 + 48 7469 c.7463C>G c.(7462-7464)TCC>TGC p.S2488C TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.S2137C NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2488 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TTCTGGAGCTCCATCCCCGCC 0.731 5 30 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24505332 24505332 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:24505332G>A uc003jgr.1 - 8 1614 c.1282C>T c.(1282-1284)CTT>TTT p.L428F CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 428 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATTCTGTCAAGGTCAGTATGG 0.363 HNSCC(23;0.051) 65 74 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26916023 26916023 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:26916023C>G uc003jgs.1 - 3 407 c.238G>C c.(238-240)GAC>CAC p.D80H CDH9_uc010iug.2_Missense_Mutation_p.D80H NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 80 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTATCTTGGTCAGTGTGAAGC 0.338 123 109 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38932055 38932055 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:38932055G>A uc003jln.1 + 16 2650 c.2283G>A c.(2281-2283)TTG>TTA p.L761L OSMR_uc011cpj.1_Intron NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 761 Helical; (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) TGTGCTACTTGAAAAGTCAGT 0.388 20 225 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:45353208C>T uc003jok.2 - 5 1396 c.1371G>A c.(1369-1371)CTG>CTA p.L457L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 457 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTACCTCTCTCAGAGGATCAT 0.343 15 170 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52374695 52374695 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:52374695C>T uc003joy.2 + 24 3062 c.2919C>T c.(2917-2919)TTC>TTT p.F973F ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.F897F|ITGA2_uc011cqd.1_Intron|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 973 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AATTCATCTTCTCCCTGAAGG 0.368 12 75 --- --- --- --- PASS PPAP2A 8611 broad.mit.edu 37 5 54721826 54721826 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:54721826G>C uc003jqa.2 - 5 1007 c.591C>G c.(589-591)CTC>CTG p.L197L PPAP2A_uc003jpz.2_Silent_p.L198L|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 197 Cytoplasmic (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) TGGGGCGTAAGAGTCTTGCCC 0.383 15 100 --- --- --- --- PASS SV2C 22987 broad.mit.edu 37 5 75591689 75591689 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:75591689G>A uc003kei.1 + 9 1558 c.1424G>A c.(1423-1425)AGA>AAA p.R475K NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 475 Extracellular (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AATGTGGAGAGAGATAAATAT 0.358 20 113 --- --- --- --- PASS LYSMD3 116068 broad.mit.edu 37 5 89815272 89815272 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:89815272G>A uc003kjr.2 - 3 433 c.285C>T c.(283-285)CTC>CTT p.L95L LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Intron NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 95 Extracellular (Potential).|LysM. cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) GATCACTGATGAGATTGTTAA 0.373 11 85 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89933761 89933761 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:89933761G>C uc003kju.2 + 11 2332 c.2236G>C c.(2236-2238)GAC>CAC p.D746H GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 746 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) ACTTTCTCTAGACAGGTAATA 0.294 8 57 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89981778 89981778 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:89981778G>A uc003kju.2 + 29 6552 c.6456G>A c.(6454-6456)GTG>GTA p.V2152V GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2152 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) ATGTCTCTGTGAAGTTTAAAG 0.428 7 26 --- --- --- --- PASS SNCAIP 9627 broad.mit.edu 37 5 121785556 121785556 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:121785556G>C uc003ksw.1 + 9 1815 c.1609G>C c.(1609-1611)GTC>CTC p.V537L SNCAIP_uc011cwl.1_Missense_Mutation_p.V95L|SNCAIP_uc003ksx.1_Missense_Mutation_p.V584L|SNCAIP_uc003ksy.1_Missense_Mutation_p.V171L|SNCAIP_uc003ksz.1_Missense_Mutation_p.V171L|SNCAIP_uc010jcu.2_Missense_Mutation_p.V133L|SNCAIP_uc011cwm.1_Missense_Mutation_p.V171L|SNCAIP_uc003kta.1_Missense_Mutation_p.V169L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.V231L|SNCAIP_uc010jcx.1_Missense_Mutation_p.V477L|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.V53L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 537 Potential. cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGTAGAACGTGTCACGCTGCA 0.403 89 123 --- --- --- --- PASS P4HA2 8974 broad.mit.edu 37 5 131552898 131552898 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:131552898G>C uc003kwh.2 - 4 887 c.323C>G c.(322-324)TCA>TGA p.S108* P4HA2_uc003kwg.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwi.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwk.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwl.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwj.2_Nonsense_Mutation_p.S108* NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 108 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ACCTGCAGCTGAGTCCTGCAG 0.577 15 141 --- --- --- --- PASS EGR1 1958 broad.mit.edu 37 5 137803577 137803577 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:137803577C>T uc003ldb.1 + 2 1709 c.1439C>T c.(1438-1440)TCG>TTG p.S480L EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 480 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) cccggctcctcgacctaccca 0.279 14 111 --- --- --- --- PASS CTNNA1 1495 broad.mit.edu 37 5 138268336 138268336 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:138268336C>T uc003ldh.2 + 17 2463 c.2368C>T c.(2368-2370)CTG>TTG p.L790L CTNNA1_uc011cyx.1_Silent_p.L687L|CTNNA1_uc011cyy.1_Silent_p.L667L|CTNNA1_uc003ldi.2_Silent_p.L488L|CTNNA1_uc003ldj.2_Silent_p.L790L|CTNNA1_uc003ldl.2_Silent_p.L420L NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 790 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGCCACCAGCTGAACATCTG 0.572 5 57 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139918523 139918523 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:139918523A>G uc003lfs.1 + 33 7548 c.7424A>G c.(7423-7425)TAT>TGT p.Y2475C ANKHD1_uc003lfr.2_Missense_Mutation_p.Y2475C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.Y1231C|ANKHD1_uc003lfw.2_Missense_Mutation_p.Y1130C|ANKHD1_uc010jfl.2_Missense_Mutation_p.Y851C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.Y620C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2475 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTCCATGTATGGAGGCACC 0.368 30 51 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215333 140215333 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:140215333C>G uc003lhq.2 + 1 1365 c.1365C>G c.(1363-1365)TTC>TTG p.F455L 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.F455L NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 455 Cadherin 4.|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) CCCCGGCGTTCGCGCAGCCCG 0.677 48 64 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140237240 140237240 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:140237240C>T uc003lhx.2 + 1 1607 c.1607C>T c.(1606-1608)GCG>GTG p.A536V 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A536V NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 536 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGATGGG 0.677 37 66 --- --- --- --- PASS DIAPH1 1729 broad.mit.edu 37 5 140953218 140953218 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:140953218G>A uc003llb.3 - 16 2340 c.2199C>T c.(2197-2199)CCC>CCT p.P733P DIAPH1_uc003llc.3_Silent_p.P724P|DIAPH1_uc010jgc.1_Silent_p.P172P NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 733 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGCCTCCGGGAAATGGAG 0.612 7 28 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149515421 149515421 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:149515421G>A uc003lro.2 - 3 530 c.61C>T c.(61-63)CTC>TTC p.L21F PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.L21F NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 21 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|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 cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGTAACAGGAGAGACAGCAAC 0.592 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 8 33 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150946710 150946710 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:150946710G>A uc003lue.3 - 1 1796 c.1783C>T c.(1783-1785)CAG>TAG p.Q595* GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.Q595* NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 595 Extracellular (Potential).|Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTAGGTTCTGAAGCTCATCC 0.413 15 112 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153030008 153030008 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:153030008G>A uc003lva.3 + 4 944 c.579G>A c.(577-579)GAG>GAA p.E193E GRIA1_uc003luy.3_Silent_p.E193E|GRIA1_uc003luz.3_Silent_p.E98E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.E113E|GRIA1_uc011dcx.1_Silent_p.E124E|GRIA1_uc011dcy.1_Silent_p.E203E|GRIA1_uc011dcz.1_Silent_p.E203E|GRIA1_uc010jia.1_Silent_p.E173E NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 193 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGACCTGGAGAAGAAAAAGG 0.537 7 74 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 155935666 155935666 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:155935666C>A uc003lwd.3 + 3 721 c.245C>A c.(244-246)TCT>TAT p.S82Y SGCD_uc003lwa.1_Missense_Mutation_p.S83Y|SGCD_uc003lwb.2_Missense_Mutation_p.S83Y|SGCD_uc003lwc.3_Missense_Mutation_p.S83Y NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 82 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGGAGACTCTGAATTCTTA 0.408 3 37 --- --- --- --- PASS LCP2 3937 broad.mit.edu 37 5 169697832 169697832 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:169697832G>T uc003man.1 - 7 621 c.414C>A c.(412-414)CCC>CCA p.P138P LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 138 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CATCTTCCACGGGTGCCTCTT 0.547 22 32 --- --- --- --- PASS UNC5A 90249 broad.mit.edu 37 5 176300995 176300995 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr5:176300995C>A uc003mey.2 + 7 1105 c.913C>A c.(913-915)CTC>ATC p.L305I UNC5A_uc010jkg.1_Missense_Mutation_p.L265I NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 305 Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACGTGGCCCTCTATGTGGG 0.627 18 42 --- --- --- --- PASS CAGE1 285782 broad.mit.edu 37 6 7355299 7355299 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:7355299C>G uc003mxi.2 - 8 2471 c.1750G>C c.(1750-1752)GCA>CCA p.A584P CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.A537P|CAGE1_uc003mxk.1_Missense_Mutation_p.A502P NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 720 0 Ovarian(93;0.0418) TGGGATATTGCAAGCCTTTGG 0.279 15 81 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7569565 7569565 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:7569565C>T uc003mxp.1 + 12 1845 c.1566C>T c.(1564-1566)CTC>CTT p.L522L DSP_uc003mxq.1_Silent_p.L522L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 522 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCGTGGACCTCTCTTGCAAGT 0.567 23 102 --- --- --- --- PASS LRRC16A 55604 broad.mit.edu 37 6 25492188 25492188 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:25492188C>A uc011djw.1 + 15 1532 c.1156C>A c.(1156-1158)CTT>ATT p.L386I LRRC16A_uc010jpx.2_Missense_Mutation_p.L386I|LRRC16A_uc010jpy.2_Missense_Mutation_p.L386I NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 386 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 CTGTGGAGCTCTTCTCCGTGG 0.413 11 60 --- --- --- --- PASS HIST1H1B 3009 broad.mit.edu 37 6 27835170 27835170 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:27835170C>G uc003njx.2 - 1 190 c.138G>C c.(136-138)CTG>CTC p.L46L NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 46 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CCTTGGTGATCAGCTCTGAGA 0.602 35 108 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28297319 28297319 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:28297319G>A uc003nla.2 - 2 542 c.142C>T c.(142-144)CAA>TAA p.Q48* ZNF323_uc003nld.2_Nonsense_Mutation_p.Q48*|ZNF323_uc010jra.2_Nonsense_Mutation_p.Q48*|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Nonsense_Mutation_p.Q48* NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 48 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGAGTCTCTTGGTAACAAAAC 0.517 9 257 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29572676 29572676 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:29572676G>C uc003nmt.3 - 21 2865 c.2529C>G c.(2527-2529)TTC>TTG p.F843L GABBR1_uc003nmp.3_Missense_Mutation_p.F726L|GABBR1_uc003nms.3_Missense_Mutation_p.F726L|GABBR1_uc003nmu.3_Missense_Mutation_p.F781L|GABBR1_uc011dlr.1_Missense_Mutation_p.F666L NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 843 Helical; Name=7; (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) TATAGGAGGAGAAAACTATGG 0.512 14 80 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672587 30672587 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:30672587G>T uc003nrg.3 - 10 4813 c.4373C>A c.(4372-4374)TCC>TAC p.S1458Y MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1065Y NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1458 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGTGGAGGTGGAAGGCTGGAG 0.567 Other_conserved_DNA_damage_response_genes 21 238 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30673549 30673549 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:30673549G>C uc003nrg.3 - 10 3851 c.3411C>G c.(3409-3411)GTC>GTG p.V1137V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.V744V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1137 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GCTTGGGAGTGACTGGCTGGG 0.577 Other_conserved_DNA_damage_response_genes 33 253 --- --- --- --- PASS CDSN 1041 broad.mit.edu 37 6 31083910 31083910 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:31083910G>T uc003nsm.1 - 2 1509 c.1482C>A c.(1480-1482)ATC>ATA p.I494I PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 494 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 AGCGGCAGGGGATCTTTCCAG 0.607 16 65 --- --- --- --- PASS BAT3 7917 broad.mit.edu 37 6 31607333 31607333 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:31607333C>T uc003nvg.3 - 24 3561 c.3247G>A c.(3247-3249)GAG>AAG p.E1083K BAT3_uc003nvf.3_Missense_Mutation_p.E1077K|BAT3_uc003nvh.3_Missense_Mutation_p.E1077K|BAT3_uc003nvi.3_Missense_Mutation_p.E1077K|BAT3_uc011dnw.1_Intron|BAT3_uc011dnx.1_Intron NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 1083 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 CTCAGGCTCTCGGGGCTCGTC 0.652 11 104 --- --- --- --- PASS BTNL2 56244 broad.mit.edu 37 6 32374847 32374847 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:32374847G>A uc003obg.1 - 1 54 c.54C>T c.(52-54)TTC>TTT p.F18F BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.F18F NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 18 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane central_nervous_system(1) 1 TCAGCAGGATGAATAGGAAGG 0.493 19 156 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33133405 33133405 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:33133405C>T uc003ocx.1 - 63 4899 c.4671G>A c.(4669-4671)ATG>ATA p.M1557I COL11A2_uc010jul.1_Missense_Mutation_p.M127I|COL11A2_uc003ocy.1_Missense_Mutation_p.M1471I|COL11A2_uc003ocz.1_Missense_Mutation_p.M1450I NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1557 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TTGGCCGCCTCATCTGCTCGA 0.657 21 125 --- --- --- --- PASS RING1 6015 broad.mit.edu 37 6 33179274 33179274 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:33179274G>C uc003odk.2 + 5 989 c.795G>C c.(793-795)GTG>GTC p.V265V RING1_uc011dqx.1_Silent_p.V265V|RING1_uc003odl.2_Silent_p.V236V NM_002931 NP_002922 Q06587 RING1_HUMAN ring finger protein 1 265 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding ovary(1)|skin(1) 2 TTGAGCTCGTGTTCCGGCCCC 0.652 5 30 --- --- --- --- PASS DAXX 1616 broad.mit.edu 37 6 33289247 33289247 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:33289247G>A uc003oec.2 - 3 509 c.305C>T c.(304-306)TCG>TTG p.S102L DAXX_uc011drd.1_Missense_Mutation_p.S27L|DAXX_uc011dre.1_Missense_Mutation_p.S114L|DAXX_uc003oed.2_Missense_Mutation_p.S102L|DAXX_uc010juw.2_Missense_Mutation_p.S27L NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 102 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GAACTCCGCCGAGGCCAAAAA 0.547 Mis|F|N Pancreatic neuroendocrine tumors 23 156 --- --- --- --- PASS USP49 25862 broad.mit.edu 37 6 41774221 41774221 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:41774221C>T uc003ori.2 - 4 723 c.501G>A c.(499-501)GCG>GCA p.A167A NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 167 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTCCAGCTTCGCCTGGCCCC 0.716 4 14 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43305564 43305564 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:43305564C>A uc003oux.2 - 10 6250 c.6172G>T c.(6172-6174)GAT>TAT p.D2058Y ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2058 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCAGCGGGATCGGAGGAATTA 0.468 17 89 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84290168 84290168 + Splice_Site SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:84290168C>T uc011dze.1 - 23 2616 c.2299_splice c.e23+1 p.N767_splice SNAP91_uc011dzd.1_Splice_Site_p.N265_splice|SNAP91_uc003pkb.2_Splice_Site_p.N676_splice|SNAP91_uc003pkc.2_Splice_Site_p.N737_splice|SNAP91_uc003pkd.2_Splice_Site_p.N460_splice|SNAP91_uc003pka.2_Splice_Site_p.N765_splice NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AGATTACTCACTGCCTACTAA 0.358 19 84 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446736 85446736 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:85446736C>A uc003pkl.1 - 8 1491 c.1491G>T c.(1489-1491)CAG>CAT p.Q497H TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 497 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) GCATGATATACTGGAGCTGGG 0.522 41 180 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90382074 90382074 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:90382074C>G uc003pnn.1 - 82 13755 c.13639G>C c.(13639-13641)GAG>CAG p.E4547Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4547 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) TGCAGTCTCTCAAAGCCTGCT 0.393 13 104 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90513082 90513082 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:90513082C>T uc003pnn.1 - 2 410 c.294G>A c.(292-294)ATG>ATA p.M98I MDN1_uc003pnp.1_Missense_Mutation_p.M98I NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 98 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) TGAGTTTGCTCATCGACACAC 0.468 38 266 --- --- --- --- PASS LIN28B 389421 broad.mit.edu 37 6 105526314 105526314 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:105526314C>A uc003pqv.1 + 4 612 c.409C>A c.(409-411)CAT>AAT p.H137N LIN28B_uc010kda.1_3'UTR NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 137 CCHC-type 1. Zinc 1 (By similarity). 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) TGGCCTTGATCATCATGCTAA 0.403 33 112 --- --- --- --- PASS FOXO3 2309 broad.mit.edu 37 6 108985121 108985121 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:108985121G>T uc003psk.2 + 3 1401 c.1085G>T c.(1084-1086)TGC>TTC p.C362F FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.C362F|FOXO3_uc011ean.1_Missense_Mutation_p.C142F|FOXO3_uc010kdj.1_Missense_Mutation_p.C142F NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 362 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|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 DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) AGCAAGCCGTGCACGGTGGAA 0.552 5 34 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111709286 111709286 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:111709286G>C uc003puy.3 - 8 1188 c.865C>G c.(865-867)CAC>GAC p.H289D REV3L_uc003pux.3_Missense_Mutation_p.H211D|REV3L_uc003puz.3_Missense_Mutation_p.H211D NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 289 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ACAAACCTGTGATCTTTGAAT 0.299 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 20 93 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111732738 111732738 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:111732738C>G uc003puy.3 - 3 672 c.349G>C c.(349-351)GAG>CAG p.E117Q REV3L_uc003pux.3_Missense_Mutation_p.E39Q|REV3L_uc003puz.3_Missense_Mutation_p.E39Q NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 117 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTTCCTTCTCATGATAACCA 0.269 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 7 31 --- --- --- --- PASS VGLL2 245806 broad.mit.edu 37 6 117589561 117589561 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:117589561G>T uc003pxn.2 + 2 488 c.298G>T c.(298-300)GAT>TAT p.D100Y VGLL2_uc003pxo.2_Missense_Mutation_p.D100Y NM_182645 NP_872586 Q8N8G2 VGLL2_HUMAN vestigial-like 2 isoform 1 100 transcription, DNA-dependent nucleus central_nervous_system(1) 1 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CTCCGTGGTGGATGAACATTT 0.582 24 80 --- --- --- --- PASS HEBP2 23593 broad.mit.edu 37 6 138727245 138727245 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:138727245G>C uc003qhw.1 + 3 673 c.376G>C c.(376-378)GAT>CAT p.D126H NM_014320 NP_055135 Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 126 mitochondrion 0 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) TTTAGAGTCAGATGTCTTCAT 0.438 57 240 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166580150 166580150 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:166580150G>C uc003quu.1 - 3 894 c.401C>G c.(400-402)GCC>GGC p.A134G T_uc003qut.1_Missense_Mutation_p.A134G|T_uc003quv.1_Missense_Mutation_p.A134G NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 134 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CATCCAGTGGGCCCCGAAGTT 0.657 Chordoma_Familial_Clustering_of 15 78 --- --- --- --- PASS TCP10 6953 broad.mit.edu 37 6 167786830 167786830 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:167786830G>T uc003qvv.1 - 8 1020 c.808C>A c.(808-810)CCA>ACA p.P270T TCP10_uc003qvu.2_Intron NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 297 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) AGGGAAGATGGTGGGTTTACA 0.488 22 149 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169622523 169622523 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:169622523G>C uc003qwt.2 - 20 3290 c.3042C>G c.(3040-3042)TTC>TTG p.F1014L NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1014 TSP C-terminal. 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) TGTTTACGTAGAATGTGCCAC 0.468 11 172 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169628356 169628356 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:169628356G>C uc003qwt.2 - 16 2528 c.2280C>G c.(2278-2280)TTC>TTG p.F760L NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 760 TSP type-3 2. 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) GGCGGGGATTGAAGAGGAGCT 0.498 5 47 --- --- --- --- PASS C6orf120 387263 broad.mit.edu 37 6 170103065 170103065 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr6:170103065G>T uc003qxb.2 + 1 809 c.510G>T c.(508-510)GAG>GAT p.E170D WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.E189D NM_001029863 NP_001025034 Q7Z4R8 CF120_HUMAN hypothetical protein LOC387263 precursor 170 extracellular region 0 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) CCTCGCAAGAGGAGGAATCTG 0.562 4 25 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 1997351 1997351 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:1997351C>A uc003slh.1 - 16 1775 c.1509G>T c.(1507-1509)TTG>TTT p.L503F MAD1L1_uc003sle.1_Missense_Mutation_p.L232F|MAD1L1_uc003slf.1_Missense_Mutation_p.L503F|MAD1L1_uc003slg.1_Missense_Mutation_p.L503F|MAD1L1_uc010ksh.1_Missense_Mutation_p.L503F|MAD1L1_uc003sli.1_Missense_Mutation_p.L411F|MAD1L1_uc010ksi.1_Missense_Mutation_p.L456F|MAD1L1_uc010ksj.2_Missense_Mutation_p.L503F NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 503 Necessary for interaction with NEK2.|Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CCTCGACCTTCAACCTGCAAG 0.632 11 72 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5355647 5355647 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:5355647C>A uc003soi.3 - 25 7151 c.6802G>T c.(6802-6804)GAC>TAC p.D2268Y NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2268 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CTGCCCGTGTCTCCGTCGTCA 0.607 6 68 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6045587 6045587 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:6045587C>T uc003spl.2 - 2 186 c.99G>A c.(97-99)CTG>CTA p.L33L PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.L33L|PMS2_uc010ktf.1_Silent_p.L33L NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 33 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) TGCTTAGACTCAGTACCACCT 0.428 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 44 393 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14758225 14758225 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:14758225C>T uc003ssz.2 - 5 595 c.408G>A c.(406-408)AAG>AAA p.K136K DGKB_uc011jxt.1_Silent_p.K129K|DGKB_uc003sta.2_Silent_p.K136K|DGKB_uc011jxu.1_Silent_p.K136K|DGKB_uc011jxv.1_Silent_p.K136K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 136 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) AGACAATGTCCTTCAGATGGA 0.438 15 53 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21750313 21750313 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:21750313G>C uc003svc.2 + 42 6878 c.6847G>C c.(6847-6849)GAT>CAT p.D2283H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2283 AAA 2 (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 TGTAATGGATGATAACAAGGT 0.368 Kartagener_syndrome 4 37 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47886498 47886498 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:47886498G>A uc003tny.1 - 32 5132 c.5132C>T c.(5131-5133)TCT>TTT p.S1711F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1711 Extracellular (Potential).|GPS. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TTTTTCAGGAGAAGTCCCTGG 0.433 9 136 --- --- --- --- PASS UPP1 7378 broad.mit.edu 37 7 48139316 48139316 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:48139316G>A uc003toj.2 + 5 623 c.94G>A c.(94-96)GAT>AAT p.D32N UPP1_uc003tok.2_Missense_Mutation_p.D32N|UPP1_uc003tol.2_Missense_Mutation_p.D32N|UPP1_uc011kcg.1_Missense_Mutation_p.D32N|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 32 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 AATGAAAGAAGATATTCTCTA 0.403 18 188 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77762213 77762213 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:77762213C>T uc003ugx.2 - 18 3450 c.3196G>A c.(3196-3198)GAA>AAA p.E1066K MAGI2_uc003ugy.2_Missense_Mutation_p.E1052K|MAGI2_uc010ldx.1_Missense_Mutation_p.E659K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1066 Pro-rich. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TACCTATTTTCGTGTCCTTGC 0.567 63 468 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82581599 82581599 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:82581599C>A uc003uhx.2 - 5 8959 c.8670G>T c.(8668-8670)CAG>CAT p.Q2890H PCLO_uc003uhv.2_Missense_Mutation_p.Q2890H|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2821 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGTGATTCCCTGGGATACGG 0.453 68 182 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87760697 87760697 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:87760697G>C uc003ujn.2 + 11 1018 c.939G>C c.(937-939)ATG>ATC p.M313I ADAM22_uc003ujj.1_Missense_Mutation_p.M313I|ADAM22_uc003ujk.1_Missense_Mutation_p.M313I|ADAM22_uc003ujl.1_Missense_Mutation_p.M313I|ADAM22_uc003ujm.2_Missense_Mutation_p.M313I|ADAM22_uc003ujo.2_Missense_Mutation_p.M313I|ADAM22_uc003ujp.1_Missense_Mutation_p.M365I NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 313 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GTGAGTTTATGAAATACAGGA 0.363 12 131 --- --- --- --- PASS KRIT1 889 broad.mit.edu 37 7 91830051 91830051 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:91830051C>T uc003ulq.1 - 17 2381 c.2210G>A c.(2209-2211)TGA>TAA p.*737* KRIT1_uc010lev.1_Silent_p.*494*|KRIT1_uc003ulr.1_Silent_p.*737*|KRIT1_uc003uls.1_Silent_p.*737*|KRIT1_uc003ult.1_Silent_p.*689*|KRIT1_uc003ulu.1_Silent_p.*737*|KRIT1_uc003ulv.1_Silent_p.*737* NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 737 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTTCTCTTTCATGAATTTCT 0.289 Familial_Cerebral_Cavernous_Angioma 6 50 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92146731 92146731 + Missense_Mutation SNP A C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:92146731A>C uc003uly.2 - 5 1194 c.1098T>G c.(1096-1098)GAT>GAG p.D366E PEX1_uc011khr.1_Missense_Mutation_p.D158E|PEX1_uc010ley.2_Missense_Mutation_p.D366E|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 366 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTTTTTTTTGATCTAGTGGCT 0.363 27 230 --- --- --- --- PASS ARPC1A 10552 broad.mit.edu 37 7 98951667 98951667 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:98951667C>A uc003upx.1 + 6 783 c.636C>A c.(634-636)TTC>TTA p.F212L ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.F198L|ARPC1A_uc011kit.1_RNA NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 212 WD 4. actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GGGTAAGCTTCTCTGCCAGTG 0.592 9 86 --- --- --- --- PASS CPSF4 10898 broad.mit.edu 37 7 99042437 99042437 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:99042437C>G uc003uqj.2 + 2 272 c.129C>G c.(127-129)TTC>TTG p.F43L PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.F43L|CPSF4_uc003uqk.2_Missense_Mutation_p.F43L|CPSF4_uc011kix.1_5'UTR NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 43 C3H1-type 1. modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(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) TCTGTGAATTCTTTTTGAAAG 0.542 53 328 --- --- --- --- PASS LRCH4 4034 broad.mit.edu 37 7 100174907 100174907 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:100174907C>T uc003uvj.2 - 11 1337 c.1284G>A c.(1282-1284)CCG>CCA p.P428P LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 428 nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TATCCTTCCTCGGGGCCCCCC 0.736 7 14 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100366312 100366312 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:100366312C>A uc003uwj.2 + 27 5286 c.5121C>A c.(5119-5121)GCC>GCA p.A1707A ZAN_uc003uwk.2_Silent_p.A1707A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.A284A NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1707 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCTGGGGGCCGCCTGGAAGT 0.612 5 22 --- --- --- --- PASS SLC26A5 375611 broad.mit.edu 37 7 103051974 103051974 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:103051974C>T uc003vbz.2 - 6 699 c.463G>A c.(463-465)GAT>AAT p.D155N SLC26A5_uc003vbt.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbu.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbv.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.D155N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 155 Extracellular (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 ATGACTATATCATCTGGTACT 0.443 37 96 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103143678 103143678 + Splice_Site SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:103143678C>G uc003vca.2 - 52 8435 c.8275_splice c.e52-1 p.I2759_splice RELN_uc010liz.2_Splice_Site_p.I2759_splice NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAACTGAGATCTAATAAACAG 0.368 8 100 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103202380 103202380 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:103202380C>G uc003vca.2 - 35 5391 c.5231G>C c.(5230-5232)AGA>ACA p.R1744T RELN_uc010liz.2_Missense_Mutation_p.R1744T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1744 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAATCCATCTGAACCGGGT 0.453 5 46 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103214687 103214687 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:103214687C>G uc003vca.2 - 30 4523 c.4363G>C c.(4363-4365)GAG>CAG p.E1455Q RELN_uc010liz.2_Missense_Mutation_p.E1455Q NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1455 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCTTCCCCTCAAACCTATCG 0.468 25 135 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103234130 103234130 + Missense_Mutation SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:103234130T>G uc003vca.2 - 27 4071 c.3911A>C c.(3910-3912)AAG>ACG p.K1304T RELN_uc010liz.2_Missense_Mutation_p.K1304T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1304 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATAAATACCTTGAACTGTAG 0.383 43 114 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104752848 104752848 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:104752848C>T uc003vcm.2 + 27 5179 c.4645C>T c.(4645-4647)CCT>TCT p.P1549S MLL5_uc010ljc.2_Missense_Mutation_p.P1549S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P283S NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1549 Pro-rich. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CCCTCCACCTCCTCCACCTCC 0.443 8 126 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116381073 116381073 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:116381073C>G uc003vij.2 + 5 1882 c.1695C>G c.(1693-1695)ATC>ATG p.I565M MET_uc010lkh.2_Missense_Mutation_p.I565M|MET_uc011knc.1_Missense_Mutation_p.I565M|MET_uc011knd.1_Missense_Mutation_p.I565M|MET_uc011kne.1_Missense_Mutation_p.I537M|MET_uc011knf.1_Missense_Mutation_p.I565M|MET_uc011kng.1_Missense_Mutation_p.I565M|MET_uc011knh.1_Missense_Mutation_p.I565M|MET_uc011kni.1_Missense_Mutation_p.I565M|MET_uc011knj.1_Missense_Mutation_p.I135M|MET_uc011knb.1_Missense_Mutation_p.I565M NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 565 Extracellular (Potential).|IPT/TIG 1. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGCCTGCAATCTACAAGGTAG 0.368 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 16 170 --- --- --- --- PASS POT1 25913 broad.mit.edu 37 7 124499073 124499073 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:124499073G>A uc003vlm.2 - 9 1241 c.640C>T c.(640-642)CAA>TAA p.Q214* POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Nonsense_Mutation_p.Q83*|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 214 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 GTCAGATTTTGTAGCCGATGG 0.378 23 73 --- --- --- --- PASS MIR129-1 406917 broad.mit.edu 37 7 127847965 127847965 + RNA SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:127847965T>C hsa-mir-129-1|MI0000252 + c.41T>C uc011koi.1_RNA 0 CTCTCAACAGTAGTCAGGAAG 0.597 10 18 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128489458 128489458 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:128489458G>T uc003vnz.3 + 30 5234 c.5025G>T c.(5023-5025)GAG>GAT p.E1675D FLNC_uc003voa.3_Missense_Mutation_p.E1675D NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1675 Filamin 15. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CAGCCGGTGAGGGGAAGGTGA 0.612 31 66 --- --- --- --- PASS TNPO3 23534 broad.mit.edu 37 7 128622324 128622324 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:128622324C>G uc003vol.1 - 14 2211 c.1837G>C c.(1837-1839)GAT>CAT p.D613H TNPO3_uc010llx.1_Missense_Mutation_p.D24H|TNPO3_uc003vom.1_Missense_Mutation_p.D547H|TNPO3_uc010lly.1_Missense_Mutation_p.D647H|TNPO3_uc010llz.1_Missense_Mutation_p.D549H NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 613 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 GCAAGGCGATCTAAGAACACT 0.408 8 69 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131864622 131864622 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:131864622G>T uc003vra.3 - 20 3927 c.3698C>A c.(3697-3699)CCG>CAG p.P1233Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1233 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CAGGCTGAGCGGGCTGTCCGG 0.647 4 25 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133821796 133821796 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:133821796G>C uc003vrm.1 + 2 334 c.318G>C c.(316-318)CTG>CTC p.L106L NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 106 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 ATGGGGTCCTGAGAGAGGAGG 0.438 7 30 --- --- --- --- PASS SVOPL 136306 broad.mit.edu 37 7 138329559 138329559 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:138329559G>A uc011kqh.1 - 8 692 c.692C>T c.(691-693)TCC>TTC p.S231F SVOPL_uc003vue.2_Missense_Mutation_p.S79F NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 231 integral to membrane transmembrane transporter activity 0 GTTCCCAGTGGAGACATTGAA 0.562 10 149 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140481417 140481417 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:140481417C>A uc003vwc.3 - 11 1452 c.1391G>T c.(1390-1392)GGA>GTA p.G464V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 464 ATP (By similarity).|Protein kinase. G -> E (in colorectal cancer).|G -> V (in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G464E(7)|p.G464V(7)|p.G464R(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TGATCCAGATCCAATTCTTTG 0.388 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 13 193 --- --- --- --- PASS OR9A4 130075 broad.mit.edu 37 7 141619217 141619217 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:141619217G>A uc003vwu.1 + 1 542 c.542G>A c.(541-543)CGA>CAA p.R181Q NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TTTTGTGACCGAGGGCAATTG 0.383 29 274 --- --- --- --- PASS PRSS1 5644 broad.mit.edu 37 7 142459707 142459707 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:142459707C>T uc003wak.2 + 3 300 c.283C>T c.(283-285)CGC>TGC p.R95C uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.R35C NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 95 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CAAGATCATCCGCCACCCCCA 0.542 Hereditary_Pancreatitis 6 268 --- --- --- --- PASS PRSS1 5644 broad.mit.edu 37 7 142460325 142460325 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:142460325G>A uc003wak.2 + 4 515 c.498G>A c.(496-498)CTG>CTA p.L166L uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.L106L NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 166 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CTCCTGTGCTGAGCCAGGCTA 0.527 Hereditary_Pancreatitis 26 697 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148516729 148516729 + Silent SNP G A A rs6954744 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:148516729G>A uc003wfd.1 - 9 1109 c.943C>T c.(943-945)CTA>TTA p.L315L EZH2_uc011kug.1_Silent_p.L306L|EZH2_uc003wfb.1_Silent_p.L320L|EZH2_uc003wfc.1_Silent_p.L276L|EZH2_uc011kuh.1_Silent_p.L306L|EZH2_uc011kui.1_Silent_p.L315L|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 315 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTGTTGTCTAGAGCTGTTTCT 0.378 Mis DLBCL 20 106 --- --- --- --- PASS TMEM176B 28959 broad.mit.edu 37 7 150490335 150490335 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:150490335C>A uc003wht.3 - 5 607 c.441G>T c.(439-441)GTG>GTT p.V147V TMEM176B_uc003whu.3_Silent_p.V147V|TMEM176B_uc003whv.3_Silent_p.V110V|TMEM176B_uc003whw.3_Silent_p.V147V NM_001101313 NP_001094783 Q3YBM2 T176B_HUMAN transmembrane protein 176B isoform a 147 Helical; (Potential). cell differentiation|organ morphogenesis integral to membrane|nuclear membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAAGCTATTCACGCAGAGGA 0.522 4 47 --- --- --- --- PASS GALNT11 63917 broad.mit.edu 37 7 151791525 151791525 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:151791525C>G uc010lqg.1 + 2 443 c.213C>G c.(211-213)TTC>TTG p.F71L GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.F71L|GALNT11_uc003wkv.1_Missense_Mutation_p.F71L|GALNT11_uc011kvn.1_RNA NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 71 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGCCACAGTTCAAAGCAAACA 0.458 11 81 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 156974312 156974312 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr7:156974312G>A uc010lqs.2 + 7 1029 c.717G>A c.(715-717)GAG>GAA p.E239E UBE3C_uc003wnf.2_Silent_p.E196E|UBE3C_uc003wng.2_Silent_p.E239E NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 239 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TTTTGCTAGAGAATGTTCTAA 0.353 14 104 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1645454 1645454 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:1645454C>A uc003wpl.2 + 11 2795 c.2698C>A c.(2698-2700)CCG>ACG p.P900T DLGAP2_uc003wpm.2_Missense_Mutation_p.P886T NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 979 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GATGGAGTCCCCGGAAAGAAA 0.582 28 83 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3087750 3087750 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:3087750G>C uc011kwk.1 - 27 4550 c.4160C>G c.(4159-4161)TCA>TGA p.S1387* CSMD1_uc011kwj.1_Nonsense_Mutation_p.S779*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.S543* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1387 Extracellular (Potential).|CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCTGCAATTGAGGCTGCAAA 0.507 6 27 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3565986 3565986 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:3565986C>T uc011kwk.1 - 7 1349 c.959G>A c.(958-960)AGA>AAA p.R320K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 320 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTGACTCCTCTTGACTTCAA 0.438 6 28 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9590841 9590841 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:9590841G>C uc003wss.2 + 15 2205 c.2200G>C c.(2200-2202)GAG>CAG p.E734Q TNKS_uc011kww.1_Missense_Mutation_p.E497Q|TNKS_uc010lrt.1_5'Flank NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 734 ANK 11. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TGAGGTGGCTGAGCTTTTAGT 0.408 15 109 --- --- --- --- PASS PPP3CC 5533 broad.mit.edu 37 8 22386063 22386063 + Nonsense_Mutation SNP G T T rs139802616 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:22386063G>T uc003xbs.2 + 10 1441 c.1114G>T c.(1114-1116)GAA>TAA p.E372* PPP3CC_uc011kzi.1_Nonsense_Mutation_p.E372*|PPP3CC_uc003xbt.2_Nonsense_Mutation_p.E372*|PPP3CC_uc011kzj.1_Nonsense_Mutation_p.E87* NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 372 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) CTCTGATGACGAACTGATTTC 0.333 13 80 --- --- --- --- PASS SCARA3 51435 broad.mit.edu 37 8 27516290 27516290 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:27516290C>T uc003xga.1 + 5 744 c.603C>T c.(601-603)GGC>GGT p.G201G SCARA3_uc003xgb.1_Silent_p.G201G NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 201 Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) CCACAGCTGGCCTGGACCTCT 0.607 11 41 --- --- --- --- PASS DDHD2 23259 broad.mit.edu 37 8 38107250 38107250 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:38107250C>A uc003xlb.2 + 11 1650 c.1273C>A c.(1273-1275)CAG>AAG p.Q425K DDHD2_uc003xlc.2_Missense_Mutation_p.Q425K|DDHD2_uc011lbl.1_Missense_Mutation_p.Q237K|DDHD2_uc003xld.2_Missense_Mutation_p.Q44K NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 425 SAM. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) CCGAGATCTTCAGGAAATAGG 0.368 7 68 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38153399 38153399 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:38153399C>T uc003xli.2 - 16 3348 c.2830G>A c.(2830-2832)GAA>AAA p.E944K WHSC1L1_uc011lbm.1_Missense_Mutation_p.E944K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E895K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 944 PHD-type 3. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CAGCAGCCTTCTGGCATTTCT 0.418 T NUP98 AML 75 105 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41790175 41790175 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:41790175T>A uc010lxb.2 - 18 6107 c.5563A>T c.(5563-5565)ATT>TTT p.I1855F MYST3_uc010lxc.2_Missense_Mutation_p.I1855F|MYST3_uc003xon.3_Missense_Mutation_p.I1855F NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1855 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CGGATGGAAATGTGCCCCTTC 0.587 8 34 --- --- --- --- PASS KIAA0146 23514 broad.mit.edu 37 8 48647946 48647946 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:48647946G>A uc003xqd.2 + 20 2691 c.2682G>A c.(2680-2682)CCG>CCA p.P894P KIAA0146_uc011ldc.1_Silent_p.P824P|KIAA0146_uc011ldd.1_Missense_Mutation_p.D835N|KIAA0146_uc003xqe.2_Silent_p.P369P|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Silent_p.P399P|KIAA0146_uc011ldg.1_Silent_p.P384P|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 894 0 Lung NSC(58;0.175) CCGCCCACCCGACCAGCTGCA 0.527 18 158 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67547363 67547363 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:67547363C>G uc003xwn.2 - 3 3301 c.3042G>C c.(3040-3042)AAG>AAC p.K1014N NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1014 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GCTCAGATTTCTTTTTCACTA 0.448 24 212 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69445345 69445345 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:69445345G>C uc010lyz.2 + 7 857 c.808G>C c.(808-810)GAA>CAA p.E270Q C8orf34_uc010lyy.1_Missense_Mutation_p.E270Q|C8orf34_uc003xyb.2_Missense_Mutation_p.E245Q NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 270 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGTAACAGAAGAAGATATTGA 0.358 30 108 --- --- --- --- PASS CALB1 793 broad.mit.edu 37 8 91078134 91078134 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:91078134C>T uc003yel.1 - 6 624 c.442G>A c.(442-444)GAC>AAC p.D148N CALB1_uc011lge.1_Missense_Mutation_p.D91N NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 148 EF-hand 4. nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) ACCATTAGGTCTGTATACTCG 0.353 25 78 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 92982910 92982910 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:92982910G>C uc003yfd.2 - 10 1599 c.1515C>G c.(1513-1515)ATC>ATG p.I505M RUNX1T1_uc003yfc.1_Missense_Mutation_p.I478M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.I468M|RUNX1T1_uc010mao.2_Missense_Mutation_p.I478M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.I516M|RUNX1T1_uc010man.1_Missense_Mutation_p.I130M|RUNX1T1_uc003yfb.1_Missense_Mutation_p.I468M NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 505 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCTGCTGATTGATAACTGCCA 0.522 14 61 --- --- --- --- PASS PDP1 54704 broad.mit.edu 37 8 94935387 94935387 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:94935387G>C uc003yge.2 + 2 1369 c.1100G>C c.(1099-1101)AGA>ACA p.R367T PDP1_uc003ygf.2_Missense_Mutation_p.R392T|PDP1_uc010max.2_Missense_Mutation_p.R392T|PDP1_uc011lgm.1_Missense_Mutation_p.R367T|PDP1_uc011lgn.1_Missense_Mutation_p.R426T NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 367 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 CTTCAAAAGAGAGTGATAGAA 0.443 16 146 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100155294 100155294 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:100155294C>G uc003yiv.2 + 13 1855 c.1744C>G c.(1744-1746)CTT>GTT p.L582V VPS13B_uc003yiw.2_Missense_Mutation_p.L582V|VPS13B_uc003yit.2_Missense_Mutation_p.L582V|VPS13B_uc003yiu.1_Missense_Mutation_p.L582V|VPS13B_uc003yix.1_Missense_Mutation_p.L53V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 582 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) TATAGGTCCTCTTGATTTTCG 0.398 20 160 --- --- --- --- PASS ABRA 137735 broad.mit.edu 37 8 107782077 107782077 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:107782077G>A uc003ymm.3 - 1 396 c.342C>T c.(340-342)GTC>GTT p.V114V NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 114 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) AAGTCTTGCTGACCACCGTTT 0.547 18 266 --- --- --- --- PASS TTC35 9694 broad.mit.edu 37 8 109462667 109462667 + Silent SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:109462667A>T uc003ymw.1 + 3 200 c.165A>T c.(163-165)ATA>ATT p.I55I NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 55 endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) TTTGGATCATATATGAACAGG 0.303 97 135 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113651004 113651004 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:113651004G>T uc003ynu.2 - 21 3606 c.3447C>A c.(3445-3447)CTC>CTA p.L1149L CSMD3_uc003yns.2_Silent_p.L421L|CSMD3_uc003ynt.2_Silent_p.L1109L|CSMD3_uc011lhx.1_Silent_p.L1045L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1149 Extracellular (Potential).|CUB 6. 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 AATTTCCATAGAGACCAGCAT 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 113 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116426593 116426593 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:116426593G>A uc003ynz.2 - 6 3963 c.3504C>T c.(3502-3504)ATC>ATT p.I1168I TRPS1_uc011lhy.1_Silent_p.I1172I|TRPS1_uc003yny.2_Silent_p.I1181I|TRPS1_uc010mcy.2_Silent_p.I1168I NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1168 Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGAATGCTTGATCGCCAAAT 0.443 Langer-Giedion_syndrome 11 113 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116616834 116616834 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:116616834G>A uc003ynz.2 - 3 1782 c.1323C>T c.(1321-1323)TTC>TTT p.F441F TRPS1_uc011lhy.1_Silent_p.F445F|TRPS1_uc003yny.2_Silent_p.F454F|TRPS1_uc010mcy.2_Silent_p.F441F NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 441 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACTCACAGCTGAAACTACAAA 0.463 Langer-Giedion_syndrome 17 99 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120772851 120772851 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:120772851C>T uc003you.2 - 20 2956 c.2686G>A c.(2686-2688)GAT>AAT p.D896N NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 896 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTAGTATAATCAACAACTGCT 0.353 16 111 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124132346 124132346 + Nonsense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:124132346T>A uc003ypp.1 + 11 1578 c.1488T>A c.(1486-1488)TAT>TAA p.Y496* WDR67_uc011lig.1_Nonsense_Mutation_p.Y496*|WDR67_uc011lih.1_Nonsense_Mutation_p.Y386*|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Nonsense_Mutation_p.Y209* NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 496 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ACACACCATATCTTCCACTCT 0.299 7 70 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124132347 124132347 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:124132347C>T uc003ypp.1 + 11 1579 c.1489C>T c.(1489-1491)CTT>TTT p.L497F WDR67_uc011lig.1_Missense_Mutation_p.L497F|WDR67_uc011lih.1_Missense_Mutation_p.L387F|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.L210F NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 497 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CACACCATATCTTCCACTCTT 0.294 7 69 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 132051841 132051841 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:132051841C>A uc003ytd.3 - 1 995 c.739G>T c.(739-741)GTG>TTG p.V247L ADCY8_uc010mds.2_Missense_Mutation_p.V247L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 247 Helical; (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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAGGTGACCACGCCGCTGTAC 0.637 HNSCC(32;0.087) 3 63 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139160775 139160775 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:139160775G>C uc003yuy.2 - 14 3607 c.3436C>G c.(3436-3438)CAT>GAT p.H1146D FAM135B_uc003yux.2_Missense_Mutation_p.H1047D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H708D|FAM135B_uc003yvb.2_Missense_Mutation_p.P673R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1146 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCAGGCCATGGACACAGACA 0.353 HNSCC(54;0.14) 20 95 --- --- --- --- PASS SLURP1 57152 broad.mit.edu 37 8 143822632 143822632 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:143822632C>T uc003ywy.2 - 3 267 c.241G>A c.(241-243)GAC>AAC p.D81N NM_020427 NP_065160 P55000 SLUR1_HUMAN ARS component B precursor 81 cell activation|cell adhesion extracellular space cytokine activity 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGTCGGGGTCGGTGGCCACA 0.662 7 35 --- --- --- --- PASS TOP1MT 116447 broad.mit.edu 37 8 144407560 144407560 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:144407560C>T uc003yxz.2 - 5 646 c.627G>A c.(625-627)CTG>CTA p.L209L TOP1MT_uc011lkd.1_Silent_p.L111L|TOP1MT_uc011lke.1_Silent_p.L111L|TOP1MT_uc010mfb.2_Silent_p.L111L|TOP1MT_uc011lkf.1_Silent_p.L4L|TOP1MT_uc010mfd.1_Silent_p.L4L NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 209 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 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) Irinotecan(DB00762)|Topotecan(DB01030) TCCTTCTCTTCAGCATCCCCA 0.592 9 78 --- --- --- --- PASS EEF1D 1936 broad.mit.edu 37 8 144663474 144663474 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:144663474C>A uc011lki.1 - 4 483 c.214G>T c.(214-216)GGC>TGC p.G72C NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.G414C|EEF1D_uc003yyq.1_Missense_Mutation_p.G488C|EEF1D_uc011lkj.1_Missense_Mutation_p.G437C|EEF1D_uc003yyr.2_Missense_Mutation_p.G438C|EEF1D_uc003yyt.2_Missense_Mutation_p.G438C|EEF1D_uc011lkk.1_Missense_Mutation_p.G72C|EEF1D_uc003yys.2_Missense_Mutation_p.G72C|EEF1D_uc003yyv.2_Missense_Mutation_p.G48C|EEF1D_uc003yyu.2_Missense_Mutation_p.G72C|EEF1D_uc011lkl.1_Missense_Mutation_p.G72C NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 72 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCGCTGGTGCCGCTGGAGGCC 0.692 5 47 --- --- --- --- PASS HSF1 3297 broad.mit.edu 37 8 145537690 145537690 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:145537690G>A uc003zbt.3 + 12 1527 c.1357G>A c.(1357-1359)GAG>AAG p.E453K HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 453 Transactivation domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CAGGCCTCCCGAGGCAGAGAA 0.687 8 71 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145665533 145665533 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:145665533C>G uc011llg.1 - 11 1366 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 451 Glu-rich. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GTTTCGGTCTCAGGGGCCTCC 0.517 35 93 --- --- --- --- PASS RPL8 6132 broad.mit.edu 37 8 146016768 146016768 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:146016768C>T uc003zeb.2 - 4 504 c.393G>A c.(391-393)GGG>GGA p.G131G RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.G95G|RPL8_uc003zec.2_Silent_p.G131G|RPL8_uc010mgc.2_3'UTR NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 131 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) TGGCATAGTTCCCTGATGCCC 0.592 6 100 --- --- --- --- PASS ZNF7 7553 broad.mit.edu 37 8 146067569 146067569 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr8:146067569G>A uc003zeg.3 + 5 1214 c.1077G>A c.(1075-1077)GAG>GAA p.E359E ZNF7_uc010mge.2_Silent_p.E370E|ZNF7_uc011lln.1_Silent_p.E263E|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.E263E|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 359 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) ACACTGGGGAGAGGCCCTACC 0.552 5 96 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8375957 8375957 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:8375957C>G uc003zkk.2 - 38 5351 c.4640G>C c.(4639-4641)GGT>GCT p.G1547A PTPRD_uc003zkp.2_Missense_Mutation_p.G1141A|PTPRD_uc003zkq.2_Missense_Mutation_p.G1140A|PTPRD_uc003zkr.2_Missense_Mutation_p.G1131A|PTPRD_uc003zks.2_Missense_Mutation_p.G1140A|PTPRD_uc003zkl.2_Missense_Mutation_p.G1538A|PTPRD_uc003zkm.2_Missense_Mutation_p.G1534A|PTPRD_uc003zkn.2_Missense_Mutation_p.G1136A|PTPRD_uc003zko.2_Missense_Mutation_p.G1137A NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1547 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AACCATCGGACCAGCATCGGG 0.468 TSP Lung(15;0.13) 4 62 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8484269 8484269 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:8484269C>A uc003zkk.2 - 29 3974 c.3263G>T c.(3262-3264)CGT>CTT p.R1088L PTPRD_uc003zkp.2_Missense_Mutation_p.R677L|PTPRD_uc003zkq.2_Missense_Mutation_p.R677L|PTPRD_uc003zkr.2_Missense_Mutation_p.R672L|PTPRD_uc003zks.2_Missense_Mutation_p.R667L|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079L|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075L|PTPRD_uc003zkn.2_Missense_Mutation_p.R677L|PTPRD_uc003zko.2_Missense_Mutation_p.R674L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1088 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACTGTTTCCACGATTTGTCAG 0.478 TSP Lung(15;0.13) 27 77 --- --- --- --- PASS MTAP 4507 broad.mit.edu 37 9 21837927 21837927 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:21837927C>T uc003zph.2 + 5 481 c.368C>T c.(367-369)TCC>TTC p.S123F MTAP_uc003zpi.1_Intron|MTAP_uc010mit.2_RNA|MTAP_uc011lnk.1_Missense_Mutation_p.S140F|MTAP_uc011lnl.1_Missense_Mutation_p.S56F NM_002451 NP_002442 Q13126 MTAP_HUMAN 5'-methylthioadenosine phosphorylase 123 nucleoside metabolic process cytoplasm phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity central_nervous_system(1) 1 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) AGACCTCAGTCCTTCTATGAT 0.443 13 254 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32543158 32543158 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:32543158C>A uc003zrb.2 - 3 1532 c.1365G>T c.(1363-1365)ACG>ACT p.T455T TOPORS_uc003zrc.2_Silent_p.T388T NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 455 Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GTATCTGAGACGTGGCTCCTC 0.403 21 138 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32630838 32630838 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:32630838C>A uc003zrg.1 - 1 4830 c.4740G>T c.(4738-4740)AAG>AAT p.K1580N uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1580 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GACTCTGATACTTGTGCTTGG 0.383 33 160 --- --- --- --- PASS C9orf100 84904 broad.mit.edu 37 9 35662700 35662700 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:35662700G>T uc003zxm.1 - 7 824 c.712C>A c.(712-714)CCT>ACT p.P238T C9orf100_uc003zxl.2_RNA NM_032818 NP_116207 Q8N4T4 CI100_HUMAN hypothetical protein LOC84904 238 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCATGGGGAGGCACCACTAAC 0.607 7 2 --- --- --- --- PASS FBXO10 26267 broad.mit.edu 37 9 37541208 37541208 + Silent SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:37541208T>A uc004aab.2 - 2 607 c.558A>T c.(556-558)CCA>CCT p.P186P FBXO10_uc004aac.2_Silent_p.P202P|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 186 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) AGAACCAGGCTGGCGTGAAGA 0.537 29 91 --- --- --- --- PASS MCART1 92014 broad.mit.edu 37 9 37887804 37887804 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:37887804C>G uc004aau.2 - 3 1488 c.744G>C c.(742-744)CAG>CAC p.Q248H MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.Q248H NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 248 Solcar 3. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) TGGGGAAAGACTGAAATTCCC 0.418 11 68 --- --- --- --- PASS APBA1 320 broad.mit.edu 37 9 72091005 72091005 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:72091005G>C uc004ahh.2 - 3 1531 c.1255C>G c.(1255-1257)CTT>GTT p.L419V NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 419 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CTGGGGTGAAGAGATGTGCTT 0.498 8 55 --- --- --- --- PASS TLE4 7091 broad.mit.edu 37 9 82323125 82323125 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:82323125G>A uc004ald.2 + 13 1953 c.1104G>A c.(1102-1104)TTG>TTA p.L368L TLE4_uc004alc.2_Silent_p.L343L|TLE4_uc010mpr.2_Silent_p.L222L|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.L311L|TLE4_uc010mps.2_Silent_p.L267L|TLE4_uc004alf.2_Silent_p.L282L NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CTCCCGGATTGAGGCCTGTAC 0.418 15 141 --- --- --- --- PASS C9orf3 84909 broad.mit.edu 37 9 97842985 97842985 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:97842985C>T uc004ava.2 + 14 2377 c.2242C>T c.(2242-2244)CGG>TGG p.R748W C9orf3_uc004auy.2_Missense_Mutation_p.R649W|C9orf3_uc004auz.1_Missense_Mutation_p.R649W|C9orf3_uc004avc.2_Missense_Mutation_p.R203W|C9orf3_uc011luj.1_Missense_Mutation_p.R110W|C9orf3_uc011luk.1_Missense_Mutation_p.R89W|C9orf3_uc004avd.2_Missense_Mutation_p.R110W NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 748 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGTTCGCCATCGGTGGTGTGA 0.542 15 149 --- --- --- --- PASS ANKS6 203286 broad.mit.edu 37 9 101530382 101530382 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:101530382C>G uc004ayu.2 - 11 2144 c.2123G>C c.(2122-2124)GGC>GCC p.G708A ANKS6_uc004ayt.2_Missense_Mutation_p.G407A|ANKS6_uc004ayv.1_Missense_Mutation_p.G170A|ANKS6_uc004ayw.1_Missense_Mutation_p.G290A|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 708 Ser-rich. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) AGGAGCGCTGCCACCTGCAGG 0.607 14 26 --- --- --- --- PASS TEX10 54881 broad.mit.edu 37 9 103090163 103090163 + Silent SNP G C C rs145080863 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:103090163G>C uc004bas.2 - 8 1922 c.1707C>G c.(1705-1707)CTC>CTG p.L569L TEX10_uc011lvf.1_Silent_p.L408L|TEX10_uc011lvg.1_Silent_p.L572L NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 569 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) GCTGTGTAGAGAGCTCAGGAT 0.428 9 54 --- --- --- --- PASS SMC2 10592 broad.mit.edu 37 9 106877046 106877046 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:106877046C>T uc004bbv.2 + 13 1895 c.1607C>T c.(1606-1608)TCT>TTT p.S536F SMC2_uc004bbu.1_Missense_Mutation_p.S536F|SMC2_uc004bbw.2_Missense_Mutation_p.S536F|SMC2_uc011lvl.1_Missense_Mutation_p.S536F|SMC2_uc004bbx.2_Missense_Mutation_p.S536F NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 536 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 AAAGACACTTCTGCAACCACA 0.338 7 93 --- --- --- --- PASS SMC2 10592 broad.mit.edu 37 9 106889003 106889003 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:106889003G>C uc004bbv.2 + 19 2821 c.2533G>C c.(2533-2535)GAA>CAA p.E845Q SMC2_uc004bbw.2_Missense_Mutation_p.E845Q|SMC2_uc011lvl.1_Missense_Mutation_p.E845Q|SMC2_uc004bbx.2_Missense_Mutation_p.E845Q|SMC2_uc004bby.2_5'Flank NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 845 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 AGCTGTAAATGAAGCTATCAA 0.348 13 67 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114131428 114131428 + Missense_Mutation SNP C T T rs145249965 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:114131428C>T uc004bfe.1 - 47 5534 c.5534G>A c.(5533-5535)CGG>CAG p.R1845Q NM_001080398 NP_001073867 KIAA0368 protein 0 TTTGGTTGTCCGGACCCCACT 0.418 8 79 --- --- --- --- PASS SUSD1 64420 broad.mit.edu 37 9 114873987 114873987 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:114873987G>C uc004bfu.2 - 8 1159 c.1118C>G c.(1117-1119)TCC>TGC p.S373C SUSD1_uc010mui.2_Missense_Mutation_p.S373C|SUSD1_uc010muj.2_Missense_Mutation_p.S373C NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 373 Extracellular (Potential). integral to membrane calcium ion binding 0 AGGTGCTGTGGAGATGTTCAC 0.547 12 136 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122075482 122075482 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:122075482G>T uc004bkc.2 - 2 608 c.152C>A c.(151-153)TCC>TAC p.S51Y DBC1_uc004bkd.2_Missense_Mutation_p.S51Y NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 51 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GTAGCTCCTGGAGTGGTGGAA 0.483 17 113 --- --- --- --- PASS MRRF 92399 broad.mit.edu 37 9 125054075 125054075 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:125054075G>C uc004bmb.2 + 5 622 c.507G>C c.(505-507)CTG>CTC p.L169L MRRF_uc004bmc.2_Silent_p.L169L|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Silent_p.L169L|MRRF_uc011lyr.1_Silent_p.L117L|MRRF_uc004bmd.2_Silent_p.L169L|MRRF_uc004bme.2_RNA NM_138777 NP_620132 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor isoform 169 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GAATGAATCTGAACCCAGAAG 0.408 18 168 --- --- --- --- PASS PBX3 5090 broad.mit.edu 37 9 128509835 128509835 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:128509835G>A uc004bqb.2 + 1 219 c.103G>A c.(103-105)GAA>AAA p.E35K PBX3_uc004bqc.2_5'UTR|PBX3_uc004bqd.2_5'UTR|PBX3_uc011lzw.1_5'Flank NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 35 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GCACGGCCACGAAGGGGCGGA 0.662 9 32 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131768572 131768572 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:131768572G>A uc004bws.1 + 43 5020 c.4998G>A c.(4996-4998)GCG>GCA p.A1666A NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1666 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TCTCTCAGGCGATGCGGTACC 0.572 OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 243 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137642704 137642704 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:137642704G>A uc004cfe.2 + 13 2020 c.1638G>A c.(1636-1638)GCG>GCA p.A546A NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 546 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGTCCCAGGCGCAAGCCATTC 0.632 8 21 --- --- --- --- PASS QSOX2 169714 broad.mit.edu 37 9 139115921 139115921 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:139115921C>A uc010nbi.2 - 4 554 c.516G>T c.(514-516)ATG>ATT p.M172I NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 172 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GGAAGTCAATCATCGTCTGTC 0.617 20 101 --- --- --- --- PASS LCN8 138307 broad.mit.edu 37 9 139651029 139651029 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:139651029C>G uc004cjb.1 - 3 520 c.171G>C c.(169-171)GAG>GAC p.E57D LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.E57D NM_178469 NP_848564 Q6JVE9 LCN8_HUMAN lipocalin 8 80 transport extracellular region binding pancreas(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) TCTTCTCTATCTCACAGCTTC 0.547 18 121 --- --- --- --- PASS TPRN 286262 broad.mit.edu 37 9 140093946 140093946 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:140093946G>T uc004clt.2 - 1 1035 c.1035C>A c.(1033-1035)CTC>CTA p.L345L TPRN_uc004clu.2_Silent_p.L345L NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 406 sensory perception of sound stereocilium 0 CCCGGTCAGCGAGGGCGGTGG 0.697 4 16 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140967951 140967951 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:140967951C>G uc004cog.2 + 32 4831 c.4686C>G c.(4684-4686)ATC>ATG p.I1562M CACNA1B_uc004coi.2_Missense_Mutation_p.I774M|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1562 Extracellular (Potential).|IV. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACAATTTCATCAACCTCAGCT 0.567 10 141 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 141010056 141010056 + Missense_Mutation SNP A C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr9:141010056A>C uc004cog.2 + 41 5847 c.5702A>C c.(5701-5703)CAG>CCG p.Q1901P CACNA1B_uc004coi.2_Missense_Mutation_p.Q1113P NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1901 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GAGCAGACACAGCCGGCTGTG 0.587 49 109 --- --- --- --- PASS ANKRD16 54522 broad.mit.edu 37 10 5929903 5929903 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:5929903C>T uc010qat.1 - 2 985 c.442G>A c.(442-444)GGC>AGC p.G148S ANKRD16_uc009xie.2_Missense_Mutation_p.G148S|ANKRD16_uc009xif.2_Missense_Mutation_p.G148S|ANKRD16_uc001iiq.2_Missense_Mutation_p.G148S|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 148 ANK 4. 0 AGAGGGTCGCCTTCTCGACTG 0.537 11 69 --- --- --- --- PASS RBM17 84991 broad.mit.edu 37 10 6155486 6155486 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:6155486C>G uc001ijb.2 + 9 1098 c.872C>G c.(871-873)TCA>TGA p.S291* RBM17_uc010qav.1_Nonsense_Mutation_p.S291*|RBM17_uc001ijc.2_5'Flank NM_032905 NP_116294 Q96I25 SPF45_HUMAN RNA binding motif protein 17 291 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding 0 TCCAAGAAGTCAGATTCAAAT 0.393 18 137 --- --- --- --- PASS ITIH2 3698 broad.mit.edu 37 10 7762923 7762923 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:7762923G>A uc001ijs.2 + 7 897 c.735G>A c.(733-735)CAG>CAA p.Q245Q NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 245 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AAGGACAACAGAAGGTACCCT 0.502 11 67 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27368049 27368049 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:27368049G>T uc001ith.2 - 7 954 c.782C>A c.(781-783)TCA>TAA p.S261* ANKRD26_uc001itg.2_5'UTR|ANKRD26_uc009xku.1_Nonsense_Mutation_p.S261* NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 261 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TTCGTCATCTGAGGTAGGCCA 0.318 11 100 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30318354 30318354 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:30318354C>T uc001iux.2 - 2 782 c.723G>A c.(721-723)CTG>CTA p.L241L KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.L103L|KIAA1462_uc009xle.1_Silent_p.L241L NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 241 ovary(4) 4 CCGTGCAACTCAGGCTCTCGG 0.453 31 119 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50820179 50820179 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:50820179G>T uc001jhw.2 + 1 1833 c.1393G>T c.(1393-1395)GTC>TTC p.V465F CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 465 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CTATGCTCCCGTCTTGCTGCT 0.642 32 38 --- --- --- --- PASS TFAM 7019 broad.mit.edu 37 10 60154126 60154126 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:60154126G>A uc001jkf.2 + 6 678 c.546G>A c.(544-546)CTG>CTA p.L182L TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.L150L NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 182 HMG box 2. DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 AGGAAAAGCTGAAGACTGTAA 0.348 11 136 --- --- --- --- PASS ARID5B 84159 broad.mit.edu 37 10 63851828 63851828 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:63851828C>G uc001jlt.1 + 10 2632 c.2606C>G c.(2605-2607)TCT>TGT p.S869C NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 869 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) GAAAACAGTTCTTTTCCTTCC 0.483 21 133 --- --- --- --- PASS HK1 3098 broad.mit.edu 37 10 71158397 71158397 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:71158397G>T uc001jpl.3 + 17 2523 c.2422G>T c.(2422-2424)GGT>TGT p.G808C HK1_uc001jpg.3_Missense_Mutation_p.G796C|HK1_uc001jph.3_Missense_Mutation_p.G812C|HK1_uc001jpi.3_Missense_Mutation_p.G812C|HK1_uc001jpj.3_Missense_Mutation_p.G843C|HK1_uc001jpk.3_Missense_Mutation_p.G807C NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 808 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 CCAGCAGCTAGGTCTGAATAG 0.617 16 27 --- --- --- --- PASS ADAMTS14 140766 broad.mit.edu 37 10 72503414 72503414 + Missense_Mutation SNP G A A rs149001845 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:72503414G>A uc001jrh.2 + 13 2035 c.2035G>A c.(2035-2037)GTC>ATC p.V679I ADAMTS14_uc001jrg.2_Missense_Mutation_p.V682I|ADAMTS14_uc001jri.1_Missense_Mutation_p.V202I 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 p.V682I(1) ovary(5)|upper_aerodigestive_tract(1) 6 CCCATACAGCGTCTGTGCGCG 0.657 4 31 --- --- --- --- PASS NUDT13 25961 broad.mit.edu 37 10 74879866 74879866 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:74879866G>A uc001jtj.2 + 3 299 c.174G>A c.(172-174)CTG>CTA p.L58L NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Silent_p.L58L|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Silent_p.L58L NM_015901 NP_056985 Q86X67 NUD13_HUMAN nudix-type motif 13 58 hydrolase activity|metal ion binding 0 Prostate(51;0.0119) TGGCTCCTCTGCTTCAGACTT 0.498 19 70 --- --- --- --- PASS TCTN3 26123 broad.mit.edu 37 10 97444366 97444366 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:97444366C>G uc001klb.3 - 9 1229 c.985G>C c.(985-987)GAG>CAG p.E329Q TCTN3_uc001kla.3_Missense_Mutation_p.E178Q|TCTN3_uc010qoi.1_Intron|TCTN3_uc001kld.2_Missense_Mutation_p.E347Q|TCTN3_uc009xux.1_Missense_Mutation_p.E151Q|TCTN3_uc009xuy.1_RNA NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 329 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CCATTGGTCTCTATCTCATAG 0.408 8 69 --- --- --- --- PASS CCNJ 54619 broad.mit.edu 37 10 97817990 97817990 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:97817990G>C uc001klm.2 + 6 1470 c.1111G>C c.(1111-1113)GAA>CAA p.E371Q uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.E382Q|CCNJ_uc001kln.2_Missense_Mutation_p.E370Q NM_019084 NP_061957 Q5T5M9 CCNJ_HUMAN cyclin J isoform 2 371 nucleus ovary(1) 1 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) TCCATGTTTTGAAAGGTGATT 0.398 8 100 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98411116 98411116 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:98411116T>A uc001kmq.2 - 6 1005 c.877A>T c.(877-879)AAC>TAC p.N293Y PIK3AP1_uc001kmp.2_Missense_Mutation_p.N115Y NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 293 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTCTCTGTGTTGTAGGGCACA 0.448 7 84 --- --- --- --- PASS PAX2 5076 broad.mit.edu 37 10 102566224 102566224 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:102566224G>C uc001krk.3 + 7 1273 c.723G>C c.(721-723)CAG>CAC p.Q241H PAX2_uc001krl.3_Missense_Mutation_p.Q218H|PAX2_uc001krm.3_Missense_Mutation_p.Q241H|PAX2_uc001kro.3_Missense_Mutation_p.Q218H|PAX2_uc001krn.3_Missense_Mutation_p.Q218H|PAX2_uc010qps.1_Missense_Mutation_p.Q217H|PAX2_uc001krp.1_Missense_Mutation_p.Q214H NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 241 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GAGATTCCCAGAGTGGTGTGG 0.582 90 153 --- --- --- --- PASS SUFU 51684 broad.mit.edu 37 10 104353392 104353392 + Splice_Site SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:104353392G>C uc001kvy.1 + 5 744 c.598_splice c.e5-1 p.I200_splice SUFU_uc001kvw.1_Splice_Site_p.I200_splice|SUFU_uc001kvx.2_Splice_Site_p.I200_splice NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CTGGGCCTCAGATCGTTGGTG 0.587 D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation 16 72 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118383557 118383557 + Missense_Mutation SNP G T T rs62623669 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:118383557G>T uc001lcq.2 + 5 177 c.154G>T c.(154-156)GAC>TAC p.D52Y PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 51 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GTCCCCCGAGGACATTGACAC 0.488 65 74 --- --- --- --- PASS FANK1 92565 broad.mit.edu 37 10 127693514 127693514 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:127693514G>T uc001ljh.3 + 7 705 c.601G>T c.(601-603)GCT>TCT p.A201S FANK1_uc009yan.2_Missense_Mutation_p.A227S|FANK1_uc001lji.2_Missense_Mutation_p.A195S NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 201 ANK 3. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AAGACATGGCGCTTCTTGGCA 0.517 80 94 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129903801 129903801 + Silent SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr10:129903801T>A uc001lke.2 - 13 6498 c.6303A>T c.(6301-6303)ATA>ATT p.I2101I MKI67_uc001lkf.2_Silent_p.I1741I|MKI67_uc009yav.1_Silent_p.I1676I|MKI67_uc009yaw.1_Silent_p.I1251I NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2101 16 X 122 AA approximate repeats.|10. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATTTGCAGGCTATTTTGGTAG 0.488 241 259 --- --- --- --- PASS NUP98 4928 broad.mit.edu 37 11 3735181 3735181 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:3735181G>A uc001lyh.2 - 19 2735 c.2444C>T c.(2443-2445)ACA>ATA p.T815I NUP98_uc001lyi.2_Missense_Mutation_p.T815I|NUP98_uc001lyj.1_Missense_Mutation_p.T815I|NUP98_uc001lyk.1_Missense_Mutation_p.T832I NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 832 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ACAACGAGATGTTTTATCTGT 0.363 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 15 90 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6190633 6190633 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:6190633C>A uc010qzy.1 - 1 924 c.924G>T c.(922-924)CGG>CGT p.R308R NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCAAAGAACCGGTGGGCTA 0.478 26 68 --- --- --- --- PASS PTH 5741 broad.mit.edu 37 11 13514120 13514120 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:13514120C>T uc001mlb.2 - 3 295 c.180G>A c.(178-180)CAG>CAA p.Q60Q NM_000315 NP_000306 P01270 PTHY_HUMAN parathyroid hormone preproprotein 60 Important for receptor binding. bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) TGTGCACATCCTGCAGCTTCT 0.488 14 78 --- --- --- --- PASS PDE3B 5140 broad.mit.edu 37 11 14880628 14880628 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:14880628C>T uc001mln.2 + 13 2913 c.2560C>T c.(2560-2562)CAT>TAT p.H854Y PDE3B_uc010rcr.1_Missense_Mutation_p.H803Y NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 854 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 GGAAAATCATCATGCTGCGTC 0.343 20 109 --- --- --- --- PASS HPS5 11234 broad.mit.edu 37 11 18301471 18301471 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:18301471C>A uc001mod.1 - 23 3626 c.3348G>T c.(3346-3348)ATG>ATT p.M1116I HPS5_uc001moe.1_Missense_Mutation_p.M1002I|HPS5_uc001mof.1_Missense_Mutation_p.M1002I NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 1116 cytosol ovary(1)|pancreas(1)|skin(1) 3 ATTTTTCAAGCATGCTTTGTA 0.393 Hermansky-Pudlak_syndrome 23 33 --- --- --- --- PASS TMEM86A 144110 broad.mit.edu 37 11 18723292 18723292 + Silent SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:18723292T>G uc001moz.1 + 3 542 c.459T>G c.(457-459)CTT>CTG p.L153L NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 153 Helical; (Potential). integral to membrane ovary(1) 1 ATGTGGCCCTTATCGGCTTCA 0.637 13 41 --- --- --- --- PASS PRRG4 79056 broad.mit.edu 37 11 32874918 32874918 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:32874918C>G uc001mtx.2 + 6 779 c.526C>G c.(526-528)CCA>GCA p.P176A NM_024081 NP_076986 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 176 Cytoplasmic (Potential). extracellular region|Golgi apparatus|integral to membrane calcium ion binding 0 Breast(20;0.206) TGCCTTGTCTCCATTGCCGCC 0.517 15 93 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761778 55761778 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:55761778C>T uc010riv.1 - 1 324 c.324G>A c.(322-324)GCG>GCA p.A108A NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) ATTCGGTTGTCGCCAGGGAGA 0.483 20 170 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798745 55798745 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:55798745T>A uc010riw.1 + 1 851 c.851T>A c.(850-852)ATG>AAG p.M284K NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) GTATTTCCCATGTTTAATCCA 0.343 24 86 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57077747 57077747 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:57077747G>C uc001njr.2 - 5 2750 c.2438C>G c.(2437-2439)TCT>TGT p.S813C TNKS1BP1_uc001njs.2_Missense_Mutation_p.S813C|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.S264C NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 813 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CCCTGGGGCAGACACTTTACT 0.637 45 289 --- --- --- --- PASS SLC43A3 29015 broad.mit.edu 37 11 57182517 57182517 + Missense_Mutation SNP G A A rs151251549 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:57182517G>A uc001nkg.2 - 10 1242 c.832C>T c.(832-834)CGC>TGC p.R278C PRG2_uc001nke.2_Missense_Mutation_p.R177C|SLC43A3_uc001nkh.2_Missense_Mutation_p.R278C|SLC43A3_uc010rjr.1_Missense_Mutation_p.R291C|SLC43A3_uc009yme.2_Missense_Mutation_p.R278C|SLC43A3_uc001nki.2_Missense_Mutation_p.R278C|SLC43A3_uc009ymf.1_Missense_Mutation_p.R278C NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 278 transmembrane transport integral to membrane central_nervous_system(1) 1 CAGGCAAAGCGCCGAGAGAAA 0.582 18 196 --- --- --- --- PASS OR5B3 441608 broad.mit.edu 37 11 58170611 58170611 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:58170611G>C uc010rkf.1 - 1 272 c.272C>G c.(271-273)TCT>TGT p.S91C NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGCATTGTAAGAGATGACCTT 0.433 16 183 --- --- --- --- PASS GLYATL1 92292 broad.mit.edu 37 11 58723411 58723411 + Missense_Mutation SNP C A A rs140092025 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:58723411C>A uc001nnf.2 + 8 1196 c.820C>A c.(820-822)CGC>AGC p.R274S uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.R305S|GLYATL1_uc001nni.1_Missense_Mutation_p.R274S|GLYATL1_uc001nnj.1_Missense_Mutation_p.R274S Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 274 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) TGAAGACTCCCGCAGATTTGT 0.448 84 97 --- --- --- --- PASS OR4D9 390199 broad.mit.edu 37 11 59282956 59282956 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:59282956G>C uc010rkv.1 + 1 571 c.571G>C c.(571-573)GAC>CAC p.D191H NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCCTGCACTGACACCTTCAC 0.453 23 268 --- --- --- --- PASS CCDC86 79080 broad.mit.edu 37 11 60617696 60617696 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:60617696G>C uc001nqa.2 + 4 1150 c.981G>C c.(979-981)AAG>AAC p.K327N CCDC86_uc001nqb.2_Missense_Mutation_p.K71N NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 327 interspecies interaction between organisms nucleus 0 ACCCCGCCAAGCTCAAGCGGG 0.637 25 107 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62298072 62298072 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:62298072C>T uc001ntl.2 - 5 4117 c.3817G>A c.(3817-3819)GAA>AAA p.E1273K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1273 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACATCCACTTCTCGGCCCTCT 0.547 117 361 --- --- --- --- PASS SLC22A10 387775 broad.mit.edu 37 11 63064845 63064845 + Missense_Mutation SNP G T T rs113851643 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:63064845G>T uc009yor.2 + 3 785 c.577G>T c.(577-579)GCT>TCT p.A193S SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 193 Cytoplasmic (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CGCTGCCTTCGCTCCCACCTT 0.428 51 202 --- --- --- --- PASS FERMT3 83706 broad.mit.edu 37 11 63987220 63987220 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:63987220C>A uc001nyl.2 + 9 1187 c.1038C>A c.(1036-1038)CTC>CTA p.L346L FERMT3_uc001nym.2_Silent_p.L346L NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 346 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 AGGACAGCCTCACCACCATCC 0.622 24 241 --- --- --- --- PASS NUDT22 84304 broad.mit.edu 37 11 63997459 63997459 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:63997459C>T uc001nyp.3 + 6 1089 c.909C>T c.(907-909)CTC>CTT p.L303L NUDT22_uc009ype.2_Silent_p.L303L|NUDT22_uc001nyq.3_Silent_p.L270L|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 303 hydrolase activity 0 TCCCGCCGCTCTGAAAATAAT 0.547 9 91 --- --- --- --- PASS SF1 7536 broad.mit.edu 37 11 64544043 64544043 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:64544043C>T uc001obb.1 - 2 464 c.87G>A c.(85-87)CAG>CAA p.Q29Q SF1_uc010rnn.1_Silent_p.Q3Q|SF1_uc001oaz.1_Silent_p.Q154Q|SF1_uc001oba.1_Silent_p.Q29Q|SF1_uc001obc.1_Silent_p.Q29Q|SF1_uc001obd.1_Silent_p.Q29Q|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Silent_p.Q29Q NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 29 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TCACTGTCTTCTGTTCCATTG 0.428 12 164 --- --- --- --- PASS MAP4K2 5871 broad.mit.edu 37 11 64557882 64557882 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:64557882G>A uc001obh.2 - 28 2237 c.2145C>T c.(2143-2145)ATC>ATT p.I715I MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Silent_p.I707I NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 715 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 AGCTGACTAGGATTGTGTCCC 0.632 17 143 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64664301 64664301 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:64664301C>A uc001obx.2 - 38 5306 c.5191G>T c.(5191-5193)GAG>TAG p.E1731* ATG2A_uc001obw.2_Nonsense_Mutation_p.E496* NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1731 protein binding ovary(1)|central_nervous_system(1) 2 TGCAGCCACTCGTTGAGGGCA 0.632 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 29 --- --- --- --- PASS SNX15 29907 broad.mit.edu 37 11 64803125 64803125 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:64803125C>G uc001oci.3 + 9 1307 c.654C>G c.(652-654)TTC>TTG p.F218L SNX15_uc009ypy.2_Missense_Mutation_p.F218L|SNX15_uc001ocj.2_Missense_Mutation_p.F218L|SNX15_uc001ock.2_Missense_Mutation_p.F218L NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 218 cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 TCGACCCCTTCTCCAAGGAAG 0.637 22 226 --- --- --- --- PASS ZFPL1 7542 broad.mit.edu 37 11 64854843 64854843 + Silent SNP A C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:64854843A>C uc001ocq.1 + 7 849 c.684A>C c.(682-684)GGA>GGC p.G228G NM_006782 NP_006773 O95159 ZFPL1_HUMAN zinc finger protein-like 1 228 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding ovary(1) 1 GCCTCCATGGAGACTGTGACG 0.602 86 115 --- --- --- --- PASS MAP3K11 4296 broad.mit.edu 37 11 65375870 65375870 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:65375870C>T uc001oew.2 - 2 1282 c.789G>A c.(787-789)CTG>CTA p.L263L MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.L6L|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 263 Protein kinase. ILLLQPIESDDMEHKTLKITDFGLAR -> SEFLGAWLGVA WLWYTPAPNLPLSLA (in Ref. 3; BAD92892). activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity p.L263L(1) breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 CGGTGATCTTCAGGGTCTTGT 0.572 11 83 --- --- --- --- PASS CTSW 1521 broad.mit.edu 37 11 65650870 65650870 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:65650870C>G uc001ogc.1 + 9 1037 c.995C>G c.(994-996)TCC>TGC p.S332C CTSW_uc001ogb.1_Missense_Mutation_p.S332C NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 332 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) CTGAAGAACTCCTGGGGGGCC 0.602 12 231 --- --- --- --- PASS BRMS1 25855 broad.mit.edu 37 11 66108320 66108320 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:66108320C>G uc001ohp.1 - 6 607 c.460G>C c.(460-462)GAC>CAC p.D154H BRMS1_uc001oho.1_Missense_Mutation_p.D154H|BRMS1_uc009yre.2_Missense_Mutation_p.M1I NM_015399 NP_056214 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 isoform 1 154 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding 0 TGCAGCGTGTCATAGAGCAGC 0.647 24 35 --- --- --- --- PASS PC 5091 broad.mit.edu 37 11 66618620 66618620 + Nonsense_Mutation SNP G C C rs113994146 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:66618620G>C uc001ojn.1 - 15 2163 c.2114C>G c.(2113-2115)TCA>TGA p.S705* PC_uc001ojo.1_Nonsense_Mutation_p.S705*|PC_uc001ojp.1_Nonsense_Mutation_p.S705*|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 705 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCCCGTGTATGAGATGGCAGC 0.617 7 95 --- --- --- --- PASS TBC1D10C 374403 broad.mit.edu 37 11 67171760 67171760 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:67171760C>T uc001ola.2 + 2 116 c.87C>T c.(85-87)AGC>AGT p.S29S PPP1CA_uc009yro.1_5'Flank|PPP1CA_uc001okt.1_5'Flank|PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|PPP1CA_uc001oky.2_5'Flank|TBC1D10C_uc001okz.2_Silent_p.S29S|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 29 intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CAGAGCTCAGCGGGCCTGGCC 0.687 6 55 --- --- --- --- PASS CPT1A 1374 broad.mit.edu 37 11 68571486 68571486 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:68571486G>C uc001oog.3 - 5 707 c.537C>G c.(535-537)GTC>GTG p.V179V CPT1A_uc001oof.3_Silent_p.V179V|CPT1A_uc009ysj.2_Silent_p.V179V NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 179 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAGTGTCTTTGACAGCCGGGA 0.493 9 80 --- --- --- --- PASS RNF121 55298 broad.mit.edu 37 11 71706589 71706589 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:71706589C>T uc001ora.2 + 8 1195 c.855C>T c.(853-855)TTC>TTT p.F285F RNF121_uc001ord.2_Silent_p.F204F|RNF121_uc001orb.2_Silent_p.F253F|RNF121_uc009yst.2_3'UTR NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 285 integral to membrane zinc ion binding 0 AGAGGATGTTCAGCAATCCGT 0.542 3 24 --- --- --- --- PASS ARHGEF17 9828 broad.mit.edu 37 11 73075604 73075604 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:73075604A>G uc001otu.2 + 18 5530 c.5509A>G c.(5509-5511)AAC>GAC p.N1837D NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1837 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 TGGCTGCCAGAACCGAGTCCT 0.612 47 71 --- --- --- --- PASS UCP3 7352 broad.mit.edu 37 11 73717284 73717284 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:73717284C>T uc001our.2 - 3 622 c.267G>A c.(265-267)ATG>ATA p.M89I UCP3_uc001ous.2_Missense_Mutation_p.M89I NM_003356 NP_003347 P55916 UCP3_HUMAN uncoupling protein 3 isoform UCP3L 89 Solcar 1.|Helical; Name=2; (Potential). mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding pancreas(1) 1 Breast(11;2.08e-05) AGGCGAAGCTCATCTGGCGCT 0.637 5 37 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73811650 73811650 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:73811650C>G uc001ouu.2 - 15 2879 c.2652G>C c.(2650-2652)TGG>TGC p.W884C NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 884 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GCACCTTATTCCAAGTTTCAA 0.448 62 81 --- --- --- --- PASS CHRDL2 25884 broad.mit.edu 37 11 74414013 74414013 + Splice_Site SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:74414013C>T uc001ovi.2 - 9 1200 c.947_splice c.e9-1 p.E316_splice CHRDL2_uc001ovg.2_Splice_Site_p.E200_splice|CHRDL2_uc001ovh.2_Splice_Site_p.E316_splice|CHRDL2_uc001ovj.1_Intron|CHRDL2_uc001ovk.1_Intron Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GCTTTGTCCTCTGGAGAGACA 0.502 OREG0021223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 173 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519517 86519517 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:86519517C>T uc001pcb.2 + 2 1048 c.832C>T c.(832-834)CAC>TAC p.H278Y PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.H246Y NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 278 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGGCAGAATTCACTTCTCTGG 0.483 24 148 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89892410 89892410 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:89892410C>A uc001pdf.3 + 8 1003 c.894C>A c.(892-894)TAC>TAA p.Y298* NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 298 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGTCAGCTACTTGGGAGGAA 0.348 41 60 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100064360 100064360 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:100064360G>C uc001pga.2 + 15 2188 c.1849G>C c.(1849-1851)GAG>CAG p.E617Q CNTN5_uc009ywv.1_Missense_Mutation_p.E617Q|CNTN5_uc001pfz.2_Missense_Mutation_p.E617Q|CNTN5_uc001pgb.2_Missense_Mutation_p.E543Q|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 617 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TATTGATTTCGAGGAAGAGGG 0.373 11 55 --- --- --- --- PASS CADM1 23705 broad.mit.edu 37 11 115049489 115049489 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:115049489C>T uc001ppi.3 - 9 1214 c.1085G>A c.(1084-1086)CGA>CAA p.R362Q CADM1_uc001ppf.3_Missense_Mutation_p.R334Q|CADM1_uc001ppk.3_Missense_Mutation_p.R334Q|CADM1_uc001ppj.3_Missense_Mutation_p.R363Q|CADM1_uc001pph.3_Missense_Mutation_p.R125Q NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 362 Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TTCACCTGCTCGGGAATCTGT 0.552 13 86 --- --- --- --- PASS C2CD2L 9854 broad.mit.edu 37 11 118986832 118986832 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:118986832C>G uc001pvo.2 + 14 2346 c.1987C>G c.(1987-1989)CAC>GAC p.H663D C2CD2L_uc001pvn.2_Missense_Mutation_p.H664D NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 663 integral to membrane 0 GAGCCAATCACACGATGACCT 0.587 5 58 --- --- --- --- PASS C2CD2L 9854 broad.mit.edu 37 11 118986933 118986933 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:118986933C>G uc001pvo.2 + 14 2447 c.2088C>G c.(2086-2088)CCC>CCG p.P696P C2CD2L_uc001pvn.2_Silent_p.P697P NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 696 integral to membrane 0 AATCCAAACCCAAGGCCAATG 0.587 7 46 --- --- --- --- PASS PVRL1 5818 broad.mit.edu 37 11 119535989 119535989 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:119535989G>A uc001pwv.2 - 6 1194 c.1022C>T c.(1021-1023)TCT>TTT p.S341F PVRL1_uc001pwu.1_Intron NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 341 Extracellular (Potential). adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TTCGGGAGGAGACGGGGTGTA 0.662 20 42 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129800974 129800974 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr11:129800974C>T uc001qfm.2 - 11 1699 c.1467G>A c.(1465-1467)GAG>GAA p.E489E PRDM10_uc001qfj.2_Silent_p.E403E|PRDM10_uc001qfk.2_Silent_p.E403E|PRDM10_uc001qfl.2_Silent_p.E403E|PRDM10_uc010sbx.1_Silent_p.E403E|PRDM10_uc001qfn.2_Silent_p.E489E|PRDM10_uc009zct.1_Silent_p.E521E NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GCACCACGCTCTCTTCATGCT 0.617 46 60 --- --- --- --- PASS CCDC77 84318 broad.mit.edu 37 12 521043 521043 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:521043G>C uc001qig.2 + 4 349 c.169G>C c.(169-171)GAG>CAG p.E57Q CCDC77_uc009zdk.2_Missense_Mutation_p.E25Q|CCDC77_uc010sdp.1_Missense_Mutation_p.E25Q|CCDC77_uc010sdq.1_Missense_Mutation_p.E25Q NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 57 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TCCTTCTAAGGAGCTCCTGGA 0.498 31 77 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4737262 4737262 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:4737262C>A uc001qnb.3 - 4 1035 c.806G>T c.(805-807)CGA>CTA p.R269L NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 269 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TTCCTGCCCTCGAAACCTCTT 0.443 28 67 --- --- --- --- PASS NOP2 4839 broad.mit.edu 37 12 6666601 6666601 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:6666601G>A uc001qph.1 - 16 2165 c.1985C>T c.(1984-1986)TCT>TTT p.S662F IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.S662F|NOP2_uc001qpj.1_Missense_Mutation_p.S91F NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 666 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 CTTTGTGACAGAAGGTACAGT 0.527 14 108 --- --- --- --- PASS ING4 51147 broad.mit.edu 37 12 6761577 6761577 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:6761577C>G uc001qpw.3 - 6 549 c.508G>C c.(508-510)GAG>CAG p.E170Q ING4_uc001qpv.3_Missense_Mutation_p.E169Q|ING4_uc001qpy.3_Missense_Mutation_p.E166Q|ING4_uc001qpx.3_Missense_Mutation_p.E167Q|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Missense_Mutation_p.E146Q|ING4_uc009zeu.2_Intron|ING4_uc009zev.2_RNA NM_001127582 NP_001121054 Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 isoform 9 170 apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|ovary(1) 4 ATCCCATACTCAGGACTTCTG 0.522 18 145 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7981421 7981421 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:7981421C>A uc001qtk.2 - 11 1417 c.624G>T c.(622-624)TGG>TGT p.W208C SLC2A14_uc001qtl.2_Missense_Mutation_p.W185C|SLC2A14_uc001qtm.2_Missense_Mutation_p.W185C|SLC2A14_uc010sgg.1_Missense_Mutation_p.W99C|SLC2A14_uc001qtn.2_Missense_Mutation_p.W208C|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.W223C NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 208 Helical; Name=6; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) ATAGCACCGGCCATAGCTCTT 0.443 49 83 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14943483 14943483 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:14943483G>A uc001rci.2 - 10 1377 c.1216C>T c.(1216-1218)CCC>TCC p.P406S NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 406 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 CCTGGCATGGGAGGTGCTTGT 0.577 53 106 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18576938 18576938 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:18576938C>T uc001rdt.2 + 17 2462 c.2346C>T c.(2344-2346)TCC>TCT p.S782S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.S823S|PIK3C2G_uc010sic.1_Silent_p.S601S NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 782 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TCCACCGCTCCTTGCAGAGCA 0.428 9 19 --- --- --- --- PASS C12orf11 55726 broad.mit.edu 37 12 27081799 27081799 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:27081799G>A uc001rhk.3 - 4 877 c.340C>T c.(340-342)CGG>TGG p.R114W C12orf11_uc010sjk.1_Missense_Mutation_p.R13W NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 114 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GGATCTGCCCGAGGATTAGGA 0.418 6 49 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40001441 40001441 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:40001441C>A uc001rmb.2 - 3 1622 c.1196G>T c.(1195-1197)GGA>GTA p.G399V NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 399 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 AGCATCAGCTCCAGAGGCCAG 0.328 38 91 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46322405 46322405 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:46322405G>A uc001rox.2 - 11 1366 c.1079C>T c.(1078-1080)TCT>TTT p.S360F SFRS2IP_uc001row.2_Missense_Mutation_p.S45F|SFRS2IP_uc001roy.1_Missense_Mutation_p.S434F NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 360 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CTCAGCTGAAGAGGGAACACT 0.443 47 133 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49444670 49444670 + Silent SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:49444670T>A uc001rta.3 - 10 2796 c.2796A>T c.(2794-2796)CCA>CCT p.P932P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 932 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCCCCTTACCTGGTGGCATCA 0.537 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 33 76 --- --- --- --- PASS KRT6B 3854 broad.mit.edu 37 12 52841347 52841347 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:52841347C>T uc001sak.2 - 8 1483 c.1435G>A c.(1435-1437)GAA>AAA p.E479K NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 479 Tail. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) CCAACGCCTTCGCCATTCAGC 0.552 41 69 --- --- --- --- PASS KRT8 3856 broad.mit.edu 37 12 53292299 53292299 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:53292299C>T uc001sbd.2 - 7 1310 c.1207G>A c.(1207-1209)GAG>AAG p.E403K KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.E431K|KRT8_uc009zml.1_Missense_Mutation_p.E403K|KRT8_uc009zmm.1_Missense_Mutation_p.E403K NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 403 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCCCAGACTCCAGCCTGTAC 0.617 7 36 --- --- --- --- PASS PFDN5 5204 broad.mit.edu 37 12 53691675 53691675 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:53691675C>A uc001scl.2 + 4 366 c.249C>A c.(247-249)CTC>CTA p.L83L PFDN5_uc001scm.2_Silent_p.L38L|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank NM_002624 NP_002615 Q99471 PFD5_HUMAN prefoldin subunit 5 isoform alpha 83 'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent nucleus|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1) 1 AACACGTGCTCATCGATGTGG 0.507 11 146 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56559219 56559219 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:56559219C>T uc001skb.2 - 26 3128 c.3022G>A c.(3022-3024)GGC>AGC p.G1008S SMARCC2_uc001skd.2_Missense_Mutation_p.G1039S|SMARCC2_uc001ska.2_Missense_Mutation_p.G1039S|SMARCC2_uc001skc.2_Missense_Mutation_p.G1038S|SMARCC2_uc010sqf.1_Missense_Mutation_p.G928S NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 1008 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCAGAAGGGCCCAAACTTCCT 0.667 4 48 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56721407 56721407 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:56721407C>T uc001skx.2 - 6 1033 c.660G>A c.(658-660)CTG>CTA p.L220L PAN2_uc001skz.2_Silent_p.L220L|PAN2_uc001sky.2_Silent_p.L220L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 220 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GGAGGTCTCTCAGGGAAACCT 0.453 18 91 --- --- --- --- PASS STAT2 6773 broad.mit.edu 37 12 56737278 56737278 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:56737278C>T uc001slc.2 - 24 2529 c.2451G>A c.(2449-2451)CCG>CCA p.P817P STAT2_uc001slb.2_Silent_p.P359P|STAT2_uc001sld.2_Silent_p.P813P NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 817 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 GGTCACCATTCGGCATGATTT 0.512 16 79 --- --- --- --- PASS PRIM1 5557 broad.mit.edu 37 12 57127988 57127988 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:57127988C>G uc001smd.2 - 12 1250 c.1186G>C c.(1186-1188)GAA>CAA p.E396Q NM_000946 NP_000937 P49642 PRI1_HUMAN DNA primase polypeptide 1 396 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding 0 AGAAAATGTTCAAAAACTTTC 0.323 9 73 --- --- --- --- PASS XPOT 11260 broad.mit.edu 37 12 64816962 64816962 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:64816962G>T uc001ssb.2 + 11 1546 c.1120G>T c.(1120-1122)GCA>TCA p.A374S NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 374 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TTATTCTTAGGCAATCATGTT 0.274 9 71 --- --- --- --- PASS XPOT 11260 broad.mit.edu 37 12 64828360 64828360 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:64828360G>C uc001ssb.2 + 20 2952 c.2526G>C c.(2524-2526)CAG>CAC p.Q842H NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 842 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) CAATTGCACAGAAAACATGTT 0.358 20 115 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81111177 81111177 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:81111177C>A uc001szg.2 + 1 470 c.335C>A c.(334-336)ACC>AAC p.T112N NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 112 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 TGTACCACGACCAACCCCAAC 0.592 25 122 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97151357 97151357 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:97151357A>T uc001tet.1 + 25 3384 c.3306A>T c.(3304-3306)TTA>TTT p.L1102F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1102 skin(6)|ovary(1) 7 GATCACCATTAACACTTAAGG 0.313 3 26 --- --- --- --- PASS TMPO 7112 broad.mit.edu 37 12 98921682 98921682 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:98921682G>A uc001tfj.2 + 2 535 c.298G>A c.(298-300)GAT>AAT p.D100N TMPO_uc001tfi.1_Missense_Mutation_p.D100N|TMPO_uc001tfk.2_Missense_Mutation_p.D100N|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D100N NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 100 Linker.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 AAAAAAAACTGATAAACCCAG 0.343 17 109 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104134531 104134531 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:104134531C>A uc001tjw.2 + 55 6064 c.5878C>A c.(5878-5880)CAG>AAG p.Q1960K STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1960 Extracellular (Potential).|Laminin EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GCGAGACTGTCAGGGTGAGGG 0.562 17 137 --- --- --- --- PASS NT5DC3 51559 broad.mit.edu 37 12 104208723 104208723 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:104208723C>T uc010swe.1 - 2 426 c.385G>A c.(385-387)GAA>AAA p.E129K NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 129 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 ACCCGGTGTTCATTGATGAGA 0.463 18 155 --- --- --- --- PASS TRPV4 59341 broad.mit.edu 37 12 110252339 110252339 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:110252339G>C uc001tpj.1 - 1 358 c.263C>G c.(262-264)TCC>TGC p.S88C TRPV4_uc001tpg.1_Missense_Mutation_p.S54C|TRPV4_uc001tph.1_Missense_Mutation_p.S88C|TRPV4_uc001tpi.1_Missense_Mutation_p.S88C|TRPV4_uc001tpk.1_Missense_Mutation_p.S88C|TRPV4_uc001tpl.1_Missense_Mutation_p.S88C NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 88 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 ATATAGGGTGGACTCCAGCAG 0.602 11 60 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110655899 110655899 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:110655899G>A uc001tqi.2 + 19 2029 c.1899G>A c.(1897-1899)ATG>ATA p.M633I IFT81_uc001tqh.2_Missense_Mutation_p.M633I|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 633 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 GTCCAAATATGAAACAAGCAA 0.323 12 104 --- --- --- --- PASS GPN3 51184 broad.mit.edu 37 12 110893649 110893649 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:110893649C>G uc001tqr.2 - 5 593 c.537G>C c.(535-537)CTG>CTC p.L179L GPN3_uc001tqs.2_Silent_p.L189L NM_016301 NP_057385 Q9UHW5 GPN3_HUMAN GPN-loop GTPase 3 isoform 1 179 protein complex GTP binding 0 CTTTTTTACTCAGCAGATCCA 0.388 8 68 --- --- --- --- PASS HPD 3242 broad.mit.edu 37 12 122281695 122281695 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:122281695G>A uc001ubj.2 - 12 915 c.875C>T c.(874-876)CCC>CTC p.P292L HPD_uc001ubk.2_Missense_Mutation_p.P253L NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 292 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GTACGTGGAGGGAACAGATAA 0.547 7 56 --- --- --- --- PASS CCDC62 84660 broad.mit.edu 37 12 123265748 123265748 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:123265748C>G uc001udc.2 + 3 412 c.267C>G c.(265-267)CTC>CTG p.L89L CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.L89L|CCDC62_uc001ude.2_5'UTR NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 isoform b 89 Potential. cytoplasm|nucleus ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TCAGGTCACTCACGAAGAAGG 0.388 10 82 --- --- --- --- PASS SBNO1 55206 broad.mit.edu 37 12 123812522 123812522 + Nonsense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:123812522G>C uc010tap.1 - 10 1349 c.1349C>G c.(1348-1350)TCA>TGA p.S450* SBNO1_uc010tao.1_Nonsense_Mutation_p.S449*|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Nonsense_Mutation_p.S450*|SBNO1_uc001ueu.2_Nonsense_Mutation_p.S449*|SBNO1_uc001uev.2_Nonsense_Mutation_p.S448*|SBNO1_uc009zxy.1_Nonsense_Mutation_p.S415* NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 450 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GGTTGGCTTTGAAGAACCAAC 0.348 15 126 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124228439 124228439 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:124228439C>T uc001ufr.2 + 10 1394 c.1146C>T c.(1144-1146)ATC>ATT p.I382I NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 382 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TTCAGAACATCGTGGATGCTT 0.453 24 197 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124289380 124289380 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:124289380G>C uc001uft.3 + 17 2451 c.2426G>C c.(2425-2427)GGC>GCC p.G809A DNAH10_uc010tav.1_Missense_Mutation_p.G351A|DNAH10_uc010taw.1_Missense_Mutation_p.G294A NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 809 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) TTCTCTCCAGGCGTGAAGGAA 0.478 40 227 --- --- --- --- PASS CCDC92 80212 broad.mit.edu 37 12 124422051 124422051 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:124422051G>T uc001ufw.1 - 5 697 c.550C>A c.(550-552)CCC>ACC p.P184T CCDC92_uc001ufv.1_Missense_Mutation_p.P167T|CCDC92_uc001ufx.1_Missense_Mutation_p.P184T|CCDC92_uc001ufy.1_Missense_Mutation_p.P167T NM_025140 NP_079416 Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 184 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GCCAGCACGGGGCTCCCTGAC 0.662 3 81 --- --- --- --- PASS SFRS8 6433 broad.mit.edu 37 12 132250835 132250835 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:132250835G>C uc001uja.1 + 13 2264 c.2124G>C c.(2122-2124)GAG>GAC p.E708D SFRS8_uc010tbn.1_Missense_Mutation_p.E708D|SFRS8_uc001ujb.1_Missense_Mutation_p.E501D NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 708 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) AAATTGAGGAGAGTCCTTTCA 0.483 22 172 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132522540 132522540 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:132522540G>A uc001ujn.2 + 31 6141 c.6106G>A c.(6106-6108)GAT>AAT p.D2036N EP400_uc001ujl.2_Missense_Mutation_p.D2035N|EP400_uc001ujm.2_Missense_Mutation_p.D1955N NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2072 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCCATGGATGATGCTGGCTT 0.483 59 174 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133327418 133327418 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:133327418C>G uc001ukx.2 - 3 725 c.658G>C c.(658-660)GAA>CAA p.E220Q ANKLE2_uc001uky.3_Missense_Mutation_p.E158Q NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 220 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TTTTTATTTTCATAAACATAG 0.413 8 76 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133357410 133357410 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr12:133357410C>A uc001ukz.1 - 18 4115 c.3556G>T c.(3556-3558)GAG>TAG p.E1186* GOLGA3_uc001ula.1_Nonsense_Mutation_p.E1186* NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1186 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTCACCTTCTCCTTCTCCTTC 0.562 13 172 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23909195 23909195 + Silent SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:23909195T>C uc001uon.2 - 10 9409 c.8820A>G c.(8818-8820)ACA>ACG p.T2940T SACS_uc001uoo.2_Silent_p.T2793T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2940 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACACTGATAATGTTGGATCAG 0.358 5 171 --- --- --- --- PASS MTMR6 9107 broad.mit.edu 37 13 25823374 25823374 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:25823374C>T uc001uqf.3 - 14 2181 c.1862G>A c.(1861-1863)TGT>TAT p.C621Y MTMR6_uc001uqe.1_Intron NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 621 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) ATGAGTCTAACAAGTCATTCT 0.383 35 69 --- --- --- --- PASS PRHOXNB 646625 broad.mit.edu 37 13 28562754 28562754 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:28562754G>A uc010aan.1 - 1 21 c.21C>T c.(19-21)AAC>AAT p.N7N NM_001105577 NP_001099047 A6NGE7 URAD_HUMAN parahox cluster neighbor 7 allantoin biosynthetic process|purine base metabolic process peroxisome carboxy-lyase activity 0 all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GGTCCATGGAGTTGACCTTCT 0.537 19 66 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29041227 29041227 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:29041227C>T uc001usb.3 - 3 486 c.201G>A c.(199-201)GTG>GTA p.V67V FLT1_uc010aar.1_Silent_p.V67V|FLT1_uc001usc.3_Silent_p.V67V|FLT1_uc010tdp.1_Silent_p.V67V|FLT1_uc001usd.2_Silent_p.V67V NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 67 Ig-like C2-type 1.|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) TTTCCTTACTCACCATTTCAG 0.448 17 131 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35733368 35733368 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:35733368C>T uc001uvb.2 + 23 3266 c.3060C>T c.(3058-3060)GTC>GTT p.V1020V NBEA_uc010abi.2_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1020 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATTACCCTGTCAGCACAGATA 0.423 7 57 --- --- --- --- PASS MRPS31 10240 broad.mit.edu 37 13 41333178 41333178 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:41333178C>T uc001uxm.3 - 3 580 c.505G>A c.(505-507)GAT>AAT p.D169N NM_005830 NP_005821 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 precursor 169 mitochondrion|ribosome protein domain specific binding 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;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GTTTGCTTATCAAAAGGGAGA 0.428 11 94 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48916850 48916850 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:48916850G>T uc001vcb.2 + 3 546 c.380G>T c.(379-381)AGT>ATT p.S127I RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 127 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(4)|p.S127I(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATAGAAATCAGGTAAAGTTTC 0.343 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 25 52 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99092218 99092218 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:99092218G>A uc001vnj.2 + 22 2773 c.2437G>A c.(2437-2439)GAG>AAG p.E813K FARP1_uc001vnh.2_Missense_Mutation_p.E844K NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 813 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCCACAGATTGAGGAGAGCGA 0.627 44 297 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109661274 109661274 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:109661274G>T uc001vqt.1 + 22 2532 c.2406G>T c.(2404-2406)ATG>ATT p.M802I MYO16_uc010agk.1_Missense_Mutation_p.M824I|MYO16_uc001vqu.1_Missense_Mutation_p.M602I|MYO16_uc010tjh.1_Missense_Mutation_p.M314I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 802 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATGAGAAGATGCACCACTATA 0.338 30 44 --- --- --- --- PASS TUBGCP3 10426 broad.mit.edu 37 13 113158973 113158973 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr13:113158973G>A uc001vse.1 - 18 2329 c.2142C>T c.(2140-2142)TTC>TTT p.F714F TUBGCP3_uc010tjq.1_Silent_p.F704F|TUBGCP3_uc001vsf.2_Silent_p.F714F NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 714 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 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) TCTGATGAATGAAATGGACCA 0.413 8 27 --- --- --- --- PASS PPP2R3C 55012 broad.mit.edu 37 14 35554831 35554831 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:35554831C>T uc001wss.2 - 13 1681 c.1327G>A c.(1327-1329)GAC>AAC p.D443N PPP2R3C_uc001wst.2_Missense_Mutation_p.D327N|PPP2R3C_uc010tpr.1_Missense_Mutation_p.D327N|PPP2R3C_uc001wsu.2_RNA NM_017917 NP_060387 Q969Q6 P2R3C_HUMAN serine/threonine-protein phosphatase 2A 443 centrosome|nucleus calcium ion binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TTTTCACTGTCATTTGCAACA 0.383 9 119 --- --- --- --- PASS PPP2R3C 55012 broad.mit.edu 37 14 35554858 35554858 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:35554858C>T uc001wss.2 - 13 1654 c.1300G>A c.(1300-1302)GAG>AAG p.E434K PPP2R3C_uc001wst.2_Missense_Mutation_p.E318K|PPP2R3C_uc010tpr.1_Missense_Mutation_p.E318K|PPP2R3C_uc001wsu.2_RNA NM_017917 NP_060387 Q969Q6 P2R3C_HUMAN serine/threonine-protein phosphatase 2A 434 centrosome|nucleus calcium ion binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TCTCTGTTCTCGTAAGTCCAG 0.378 12 128 --- --- --- --- PASS FAM179B 23116 broad.mit.edu 37 14 45512921 45512921 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:45512921G>C uc001wvv.2 + 12 4054 c.3845G>C c.(3844-3846)AGA>ACA p.R1282T FAM179B_uc001wvw.2_Missense_Mutation_p.R1282T|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1282 binding skin(2)|upper_aerodigestive_tract(1) 3 AATTTTATTAGATGCTTAGCT 0.343 33 88 --- --- --- --- PASS C14orf106 55320 broad.mit.edu 37 14 45706889 45706889 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:45706889G>A uc001wwf.2 - 5 1638 c.1179C>T c.(1177-1179)ATC>ATT p.I393I C14orf106_uc010anh.2_RNA NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 393 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TATTATTATTGATGCTTTTAA 0.274 11 135 --- --- --- --- PASS CDKL1 8814 broad.mit.edu 37 14 50844896 50844896 + Silent SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:50844896T>C uc010anu.1 - 9 1353 c.1353A>G c.(1351-1353)GCA>GCG p.A451A CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) ttcctttacctgcagacctta 0.000 21 58 --- --- --- --- PASS GCH1 2643 broad.mit.edu 37 14 55369083 55369083 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:55369083G>A uc001xbh.1 - 1 460 c.299C>T c.(298-300)TCG>TTG p.S100L GCH1_uc001xbi.1_Missense_Mutation_p.S100L|GCH1_uc001xbj.1_Missense_Mutation_p.S100L|GCH1_uc001xbk.1_Missense_Mutation_p.S100L|GCH1_uc010aol.1_Missense_Mutation_p.S100L|GCH1_uc001xbl.1_Missense_Mutation_p.S100L NM_001024024 NP_001019195 P30793 GCH1_HUMAN GTP cyclohydrolase 1 isoform 1 100 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding skin(1) 1 CTGCATGGCCGAGGCCGCCCT 0.687 5 71 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56117286 56117286 + Splice_Site SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:56117286G>T uc001xcb.2 + 25 2799 c.2497_splice c.e25-1 p.D833_splice KTN1_uc001xce.2_Splice_Site_p.D833_splice|KTN1_uc001xcc.2_Splice_Site_p.D833_splice|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Splice_Site_p.D833_splice|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Splice_Site_p.D128_splice NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TCATTGTCAAGGATTTGAAAC 0.348 T RET papillary thryoid 17 92 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64461905 64461905 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:64461905C>T uc001xgm.2 + 23 3155 c.2925C>T c.(2923-2925)CTC>CTT p.L975L SYNE2_uc001xgl.2_Silent_p.L975L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 975 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) CCAAGGGTCTCATCAAAGAAC 0.313 13 95 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64537597 64537597 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:64537597G>C uc001xgm.2 + 52 10896 c.10666G>C c.(10666-10668)GAA>CAA p.E3556Q SYNE2_uc001xgl.2_Missense_Mutation_p.E3556Q|SYNE2_uc010apw.1_Missense_Mutation_p.E262Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3556 Potential.|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) AGCATTTCAAGAAATTACTTC 0.373 10 110 --- --- --- --- PASS ESR2 2100 broad.mit.edu 37 14 64724059 64724059 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:64724059C>G uc001xha.1 - 6 1444 c.976G>C c.(976-978)GAC>CAC p.D326H ESR2_uc001xgu.2_Missense_Mutation_p.D326H|ESR2_uc001xgv.2_Missense_Mutation_p.D326H|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D326H|ESR2_uc001xgy.1_Missense_Mutation_p.D326H|ESR2_uc001xgz.1_Missense_Mutation_p.D326H|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 326 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CGCACTTGGTCGAACAGGCTG 0.572 16 188 --- --- --- --- PASS AKAP5 9495 broad.mit.edu 37 14 64936211 64936211 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:64936211G>C uc001xhd.3 + 2 1477 c.1099G>C c.(1099-1101)GAA>CAA p.E367Q ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 367 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) AATTTCAGCTGAAAATGAGCA 0.323 20 293 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65246467 65246467 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:65246467G>A uc001xht.2 - 20 4503 c.4449C>T c.(4447-4449)ATC>ATT p.I1483I SPTB_uc001xhr.2_Silent_p.I1483I|SPTB_uc001xhs.2_Silent_p.I1483I|SPTB_uc001xhu.2_Silent_p.I1483I|SPTB_uc010aqi.2_Silent_p.I144I NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1483 Spectrin 12. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGTCCCGGCTGATCTGCAGCT 0.592 34 219 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68249978 68249978 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:68249978G>C uc001xka.2 - 21 4030 c.3891C>G c.(3889-3891)CTC>CTG p.L1297L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1297L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1297 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) TGAGGGCTGGGAGTGATGAGT 0.577 28 320 --- --- --- --- PASS ZFP36L1 677 broad.mit.edu 37 14 69256726 69256726 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:69256726C>G uc001xkh.1 - 2 671 c.541G>C c.(541-543)GAG>CAG p.E181Q ZFP36L1_uc001xki.1_Missense_Mutation_p.E181Q NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 181 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCACGGCGCTCTTCAGCGTTG 0.612 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 68 --- --- --- --- PASS ACOT4 122970 broad.mit.edu 37 14 74061929 74061929 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:74061929G>A uc001xoo.2 + 3 1091 c.837G>A c.(835-837)CTG>CTA p.L279L NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 279 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) GCTATGACCTGAGGAGAATCA 0.473 16 152 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75230773 75230773 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75230773C>A uc001xqj.3 + 1 705 c.581C>A c.(580-582)TCC>TAC p.S194Y NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 37 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCTTCGCAGTCCCCACCTTCC 0.597 7 105 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75513083 75513083 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75513083C>T uc001xrd.1 - 2 3492 c.3276G>A c.(3274-3276)GAG>GAA p.E1092E MLH3_uc001xre.1_Silent_p.E1092E|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 1092 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) ACTTACCATTCTCAAGTACAA 0.423 MMR 10 145 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75513680 75513680 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75513680C>A uc001xrd.1 - 2 2895 c.2679G>T c.(2677-2679)ATG>ATT p.M893I MLH3_uc001xre.1_Missense_Mutation_p.M893I|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 893 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TAAAACGACTCATCATCCCCA 0.373 MMR 30 382 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75513683 75513683 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75513683C>T uc001xrd.1 - 2 2892 c.2676G>A c.(2674-2676)ATG>ATA p.M892I MLH3_uc001xre.1_Missense_Mutation_p.M892I|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 892 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) AACGACTCATCATCCCCATTG 0.363 MMR 31 376 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75514218 75514218 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75514218G>A uc001xrd.1 - 2 2357 c.2141C>T c.(2140-2142)TCC>TTC p.S714F MLH3_uc001xre.1_Missense_Mutation_p.S714F|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 714 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) GAAAGAGGGGGATGTATCAGA 0.378 MMR 22 196 --- --- --- --- PASS FOS 2353 broad.mit.edu 37 14 75747297 75747297 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:75747297G>A uc001xrn.2 + 3 633 c.428G>A c.(427-429)CGA>CAA p.R143Q FOS_uc010tva.1_Intron|FOS_uc010asi.2_Missense_Mutation_p.R29Q|FOS_uc001xro.2_5'UTR NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 143 Basic motif. SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry). cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) AGGAGAATCCGAAGGGAAAGG 0.468 11 58 --- --- --- --- PASS C14orf174 161394 broad.mit.edu 37 14 77857401 77857401 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:77857401C>G uc001xtq.1 + 3 1839 c.1839C>G c.(1837-1839)TTC>TTG p.F613L NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 613 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) AGCCATTATTCAAACGCTCCA 0.383 9 134 --- --- --- --- PASS SEL1L 6400 broad.mit.edu 37 14 81972508 81972508 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:81972508C>A uc010tvv.1 - 4 535 c.418G>T c.(418-420)GAA>TAA p.E140* SEL1L_uc001xvo.3_Nonsense_Mutation_p.E140* NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 140 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) GATGTACATTCATCATACTCC 0.438 18 144 --- --- --- --- PASS C14orf102 55051 broad.mit.edu 37 14 90798204 90798204 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:90798204A>T uc001xyi.1 - 1 76 c.45T>A c.(43-45)GAT>GAA p.D15E C14orf102_uc001xyj.1_5'UTR NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 15 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) AGCTCCCGCCATCGGGAGCCT 0.607 26 187 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92191510 92191510 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:92191510C>A uc001xzs.1 - 3 222 c.82G>T c.(82-84)GAT>TAT p.D28Y NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 28 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTCTCTGTATCATCTAAATAA 0.289 3 56 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94125580 94125580 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:94125580G>C uc001ybv.1 + 38 6233 c.6150G>C c.(6148-6150)TTG>TTC p.L2050F KIAA1409_uc001ybs.1_Missense_Mutation_p.L2028F NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2205 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) TTTGCCTCTTGAAGATCCCTT 0.303 7 57 --- --- --- --- PASS EML1 2009 broad.mit.edu 37 14 100405640 100405640 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:100405640C>G uc001ygs.2 + 21 2367 c.2298C>G c.(2296-2298)TTC>TTG p.F766L EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 766 WD 10. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) TGCACCTCTTCTCATACCCCT 0.537 28 110 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409022 105409022 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105409022C>A uc010axc.1 - 7 12886 c.12766G>T c.(12766-12768)GTC>TTC p.V4256F AHNAK2_uc001ypx.2_Missense_Mutation_p.V4156F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4256 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) ACCTCCACGACGGGGGTCATC 0.642 105 231 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409053 105409053 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105409053C>G uc010axc.1 - 7 12855 c.12735G>C c.(12733-12735)CTG>CTC p.L4245L AHNAK2_uc001ypx.2_Silent_p.L4145L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4245 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) TGGGGCCTTTCAGGTCCAGCT 0.637 34 325 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105414670 105414670 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105414670G>C uc010axc.1 - 7 7238 c.7118C>G c.(7117-7119)GCT>GGT p.A2373G AHNAK2_uc001ypx.2_Missense_Mutation_p.A2273G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2373 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) CTCCAGGTCAGCGGAAGGGGG 0.652 10 371 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105417072 105417072 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105417072G>C uc010axc.1 - 7 4836 c.4716C>G c.(4714-4716)CTC>CTG p.L1572L AHNAK2_uc001ypx.2_Silent_p.L1472L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1572 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) GGTGCCCTTTGAGGCCGGCTC 0.607 41 360 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105420059 105420059 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105420059C>T uc010axc.1 - 7 1849 c.1729G>A c.(1729-1731)GAA>AAA p.E577K AHNAK2_uc001ypx.2_Missense_Mutation_p.E477K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 577 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) ATCTGTCCTTCTGTGTCTTCC 0.502 38 422 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105421375 105421375 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:105421375G>C uc010axc.1 - 6 690 c.570C>G c.(568-570)ATC>ATG p.I190M AHNAK2_uc001ypx.2_Missense_Mutation_p.I90M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 190 PDZ. 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) GCTGCCGTCTGATTTTGAACT 0.507 30 58 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106091400 106091400 + RNA SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:106091400T>C uc010tyt.1 - 3647 c.62108A>G uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron Parts of antibodies, mostly variable regions. 0 CTTGGCATTATGCACCTCCAC 0.612 47 355 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106691922 106691922 + RNA SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr14:106691922C>T uc010tyt.1 - 754 c.20441G>A Parts of antibodies, mostly variable regions. 0 TCAGGGACCCCCCAGGCTTGA 0.587 5 217 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 26026276 26026276 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:26026276G>A uc010ayu.2 - 2 650 c.544C>T c.(544-546)CTG>TTG p.L182L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 182 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GAGAGCAGCAGAATGTCCGCA 0.557 4 92 --- --- --- --- PASS GJD2 57369 broad.mit.edu 37 15 35044789 35044789 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:35044789C>T uc001zis.1 - 2 856 c.856G>A c.(856-858)GGG>AGG p.G286R uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 286 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GCCTGAGCCCCTCGCACAGCC 0.512 5 103 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40949569 40949569 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:40949569C>T uc010bbs.1 + 25 6850 c.6689C>T c.(6688-6690)TCA>TTA p.S2230L CASC5_uc010bbt.1_Missense_Mutation_p.S2204L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2230 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GAAGAATTCTCACTGGTAGTG 0.333 8 164 --- --- --- --- PASS ZSCAN29 146050 broad.mit.edu 37 15 43654029 43654029 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:43654029G>A uc001zrk.1 - 5 1948 c.1801C>T c.(1801-1803)CTT>TTT p.L601F ZSCAN29_uc001zrj.1_Missense_Mutation_p.L481F|ZSCAN29_uc010bdf.1_Silent_p.I529I|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.L211F NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 601 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CCCTGATGAAGATACCGGGGA 0.433 8 225 --- --- --- --- PASS CTDSPL2 51496 broad.mit.edu 37 15 44751303 44751303 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:44751303G>C uc001ztr.2 + 2 507 c.91G>C c.(91-93)GAT>CAT p.D31H CTDSPL2_uc001zts.2_Missense_Mutation_p.D31H|CTDSPL2_uc001ztt.2_Missense_Mutation_p.D31H|CTDSPL2_uc010bdv.2_Missense_Mutation_p.D31H NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 31 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) TTCAGAGGTTGATGATAGCCT 0.408 5 127 --- --- --- --- PASS SLTM 79811 broad.mit.edu 37 15 59191709 59191709 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:59191709C>T uc002afp.2 - 7 1105 c.1017G>A c.(1015-1017)AAG>AAA p.K339K SLTM_uc002afo.2_Silent_p.K321K|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Silent_p.K238K NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 339 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 AGGGCCCTTTCTTCAAAGTAT 0.438 16 114 --- --- --- --- PASS CT62 196993 broad.mit.edu 37 15 71404515 71404515 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:71404515G>A uc002ata.2 - 3 620 c.107C>T c.(106-108)TCC>TTC p.S36F NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN cancer/testis antigen 62 36 0 TGCAGGCTGGGAACCACAGGA 0.552 4 42 --- --- --- --- PASS HEXA 3073 broad.mit.edu 37 15 72641494 72641494 + Missense_Mutation SNP G C C rs121907960 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:72641494G>C uc002aun.3 - 8 1119 c.912C>G c.(910-912)TTC>TTG p.F304L uc002aug.2_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.F315L|HEXA_uc002auo.3_Missense_Mutation_p.F167L|HEXA_uc010bix.2_Missense_Mutation_p.F304L|HEXA_uc010biy.2_Missense_Mutation_p.F167L|HEXA_uc010uko.1_Missense_Mutation_p.F130L|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 304 Missing (in GM2G1; infantile; Moroccan Jewish). cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 CTTCTAAGAAGAATGTGCTCA 0.463 13 69 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74573116 74573116 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:74573116C>A uc002axo.2 + 9 1391 c.997C>A c.(997-999)CTT>ATT p.L333I CCDC33_uc002axp.2_Missense_Mutation_p.L155I NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 536 protein binding ovary(3)|skin(2) 5 CTTGGACGGGCTTCACGTGGA 0.507 32 58 --- --- --- --- PASS PTPN9 5780 broad.mit.edu 37 15 75762311 75762311 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:75762311G>C uc002bal.2 - 12 1897 c.1389C>G c.(1387-1389)TTC>TTG p.F463L NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 463 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 TCAAGAACTGGAAGTGGGTCA 0.498 11 68 --- --- --- --- PASS PTPN9 5780 broad.mit.edu 37 15 75763113 75763113 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:75763113G>C uc002bal.2 - 11 1775 c.1267C>G c.(1267-1269)CGG>GGG p.R423G NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 423 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 AATCGGATCCGAGAGTCTTTT 0.463 17 109 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:79059041T>C uc002bej.3 - 19 3423 c.3212A>G c.(3211-3213)AAT>AGT p.N1071S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CTCGTGGAAATTGATGAAATT 0.617 4 58 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83349908 83349908 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:83349908G>A uc010uoh.1 - 6 721 c.544C>T c.(544-546)CAG>TAG p.Q182* AP3B2_uc010uoi.1_Nonsense_Mutation_p.Q182*|AP3B2_uc010uoj.1_Nonsense_Mutation_p.Q150*|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 182 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) TCTATCAGCTGATCCTTCTGG 0.577 3 19 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85383714 85383714 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:85383714G>T uc002ble.2 + 5 1977 c.1810G>T c.(1810-1812)GCC>TCC p.A604S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 604 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGCCCAGAAGGCCCCTGGCCC 0.637 10 38 --- --- --- --- PASS CIB1 10519 broad.mit.edu 37 15 90774374 90774374 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:90774374C>T uc002bpb.3 - 5 580 c.418G>A c.(418-420)GAG>AAG p.E140K NM_006384 NP_006375 Q99828 CIB1_HUMAN calcium and integrin binding 1 140 apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CGTGTGTCCTCGCCCTCTCCC 0.582 29 116 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 91020916 91020916 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:91020916C>G uc002bpl.1 + 26 3225 c.3124C>G c.(3124-3126)CAA>GAA p.Q1042E NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1042 Ras-GAP.|C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGATCAGATTCAAGAGATTGT 0.403 13 148 --- --- --- --- PASS FURIN 5045 broad.mit.edu 37 15 91423120 91423120 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:91423120C>G uc002bpu.1 + 12 1498 c.1282C>G c.(1282-1284)CTT>GTT p.L428V NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 428 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGGCTACGGGCTTTTGGACGC 0.617 36 82 --- --- --- --- PASS CHSY1 22856 broad.mit.edu 37 15 101718886 101718886 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr15:101718886C>G uc002bwt.1 - 4 1599 c.1116G>C c.(1114-1116)GAG>GAC p.E372D CHSY1_uc010usd.1_Missense_Mutation_p.E100D NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 372 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATTCCAGAATCTCCTCTCGCT 0.532 38 96 --- --- --- --- PASS OR1F1 4992 broad.mit.edu 37 16 3254937 3254937 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:3254937A>G uc010uwu.1 + 1 691 c.691A>G c.(691-693)ACA>GCA p.T231A NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTCCCATCCACAAAGGGAAG 0.498 49 137 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3633150 3633150 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:3633150C>G uc002cvp.2 - 14 5728 c.5101G>C c.(5101-5103)GAA>CAA p.E1701Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1701 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GCCACGGATTCTTGAGAGGCT 0.577 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 15 141 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3778105 3778105 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:3778105T>A uc002cvv.2 - 31 7147 c.6943A>T c.(6943-6945)AGC>TGC p.S2315C CREBBP_uc002cvw.2_Missense_Mutation_p.S2277C NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2315 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCTGGGGGCTCATGGGGTTC 0.627 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 20 113 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3779748 3779748 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:3779748G>A uc002cvv.2 - 31 5504 c.5300C>T c.(5299-5301)TCA>TTA p.S1767L CREBBP_uc002cvw.2_Missense_Mutation_p.S1729L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1767 TAZ-type 2.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CAGCCGGCGTGACTCCTGGGG 0.642 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 5 39 --- --- --- --- PASS GLYR1 84656 broad.mit.edu 37 16 4863804 4863804 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:4863804G>A uc002cxx.3 - 12 1090 c.1053C>T c.(1051-1053)ATC>ATT p.I351I GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.I265I|GLYR1_uc002cya.2_Silent_p.I345I|GLYR1_uc010uxv.1_Silent_p.I270I NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 351 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 TCCCAGGGCGGATCCCTTGCA 0.627 5 32 --- --- --- --- PASS SEC14L5 9717 broad.mit.edu 37 16 5055943 5055943 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:5055943G>T uc002cye.2 + 12 1511 c.1331G>T c.(1330-1332)AGG>ATG p.R444M NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 444 CRAL-TRIO. integral to membrane|intracellular transporter activity 0 GAGAACACCAGGCGGAAGTTC 0.423 8 18 --- --- --- --- PASS TEKT5 146279 broad.mit.edu 37 16 10775923 10775923 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:10775923C>A uc002czz.1 - 4 862 c.790G>T c.(790-792)GAG>TAG p.E264* NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 264 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 AAGCACTTCTCATCGATACAC 0.537 36 231 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18827768 18827768 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:18827768C>G uc002dfm.2 - 58 10521 c.10158G>C c.(10156-10158)CAG>CAC p.Q3386H SMG1_uc010bwb.2_Missense_Mutation_p.Q3246H|SMG1_uc010bwa.2_Missense_Mutation_p.Q2117H NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3386 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GAATTGCCCTCTGAGTAGACA 0.423 5 80 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19501728 19501728 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:19501728C>T uc002dgc.3 + 18 3334 c.2585C>T c.(2584-2586)TCA>TTA p.S862L TMC5_uc010vaq.1_Missense_Mutation_p.S810L|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.S862L|TMC5_uc002dgd.1_Missense_Mutation_p.S616L|TMC5_uc002dge.3_Missense_Mutation_p.S616L|TMC5_uc002dgf.3_Missense_Mutation_p.S545L|TMC5_uc002dgg.3_Missense_Mutation_p.S503L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 862 Cytoplasmic (Potential). integral to membrane skin(1) 1 TTGAAGCCTTCAGCTGACTGT 0.507 30 197 --- --- --- --- PASS C16orf88 400506 broad.mit.edu 37 16 19718331 19718331 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:19718331C>T uc002dgq.2 - 5 1293 c.1278G>A c.(1276-1278)TGG>TGA p.W426* NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 426 Interaction with ZFP106 (By similarity). nucleolus 0 GGCTGTACTTCCAGCTCATGG 0.592 28 168 --- --- --- --- PASS SULT1A1 6817 broad.mit.edu 37 16 28631386 28631386 + Translation_Start_Site SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:28631386T>C uc002dqn.2 - 2 484 c.-67A>G c.(-69--65)ATATG>ATGTG uc010vct.1_Intron|SULT1A1_uc002dqm.2_Missense_Mutation_p.M46V|SULT1A1_uc002dqo.2_Translation_Start_Site|SULT1A1_uc002dqp.2_Translation_Start_Site NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TGTCTTACCATATAGGTGTTC 0.254 12 48 --- --- --- --- PASS ZNF668 79759 broad.mit.edu 37 16 31075372 31075372 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:31075372C>G uc010caf.2 - 2 766 c.409G>C c.(409-411)GAA>CAA p.E137Q ZNF668_uc002eao.2_Missense_Mutation_p.E137Q|ZNF668_uc010cag.1_Missense_Mutation_p.E137Q NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AAGGGCAGTTCGCCAGCGTGC 0.701 9 23 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31273035 31273035 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:31273035C>G uc002ebq.2 + 2 149 c.51C>G c.(49-51)TTC>TTG p.F17L ITGAM_uc002ebr.2_Missense_Mutation_p.F17L NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 17 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GTCATGGGTTCAACTTGGACA 0.473 12 30 --- --- --- --- PASS HSD11B2 3291 broad.mit.edu 37 16 67470609 67470609 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:67470609C>G uc002etd.2 + 5 1037 c.921C>G c.(919-921)TTC>TTG p.F307L NM_000196 NP_000187 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 307 glucocorticoid biosynthetic process endoplasmic reticulum|microsome 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) ATGGGCAGTTCCTGCACTCGC 0.617 30 130 --- --- --- --- PASS RANBP10 57610 broad.mit.edu 37 16 67763247 67763247 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:67763247C>A uc002eud.2 - 10 1404 c.1288G>T c.(1288-1290)GAG>TAG p.E430* RANBP10_uc010ceo.2_Nonsense_Mutation_p.E201*|RANBP10_uc010vju.1_Nonsense_Mutation_p.E374*|RANBP10_uc010vjv.1_Nonsense_Mutation_p.E313*|RANBP10_uc010vjw.1_Nonsense_Mutation_p.E91* NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 430 Ser-rich. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GAGTTGGACTCGGAGTAATTG 0.408 3 78 --- --- --- --- PASS EDC4 23644 broad.mit.edu 37 16 67914814 67914814 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:67914814G>A uc002eur.2 + 18 2618 c.2452G>A c.(2452-2454)GAG>AAG p.E818K EDC4_uc010cer.2_Missense_Mutation_p.E437K|EDC4_uc002eus.2_Missense_Mutation_p.E548K|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 818 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTTGACCCAGGAGGCCTCGAC 0.642 5 144 --- --- --- --- PASS EDC4 23644 broad.mit.edu 37 16 67916221 67916221 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:67916221C>G uc002eur.2 + 24 3433 c.3267C>G c.(3265-3267)CTC>CTG p.L1089L EDC4_uc010cer.2_Silent_p.L708L|EDC4_uc002eus.2_Silent_p.L819L|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1089 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCAAGCTGCTCAAGTCCAAGG 0.582 13 28 --- --- --- --- PASS DPEP2 64174 broad.mit.edu 37 16 68026025 68026025 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:68026025G>A uc010cey.2 - 3 626 c.462C>T c.(460-462)GAC>GAT p.D154D DPEP2_uc002evd.3_Silent_p.D154D|DPEP2_uc002eve.2_Silent_p.D154D|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Missense_Mutation_p.T112I NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 154 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GGCGTATGAGGTCAATCTGCT 0.572 12 131 --- --- --- --- PASS NQO1 1728 broad.mit.edu 37 16 69748870 69748870 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:69748870G>A uc002exp.2 - 4 605 c.414C>T c.(412-414)TTC>TTT p.F138F NQO1_uc010cfm.2_Silent_p.F117F|NQO1_uc002exq.2_Silent_p.F138F|NQO1_uc002exr.2_Intron|NQO1_uc010vll.1_Intron NM_000903 NP_000894 P15559 NQO1_HUMAN NAD(P)H menadione oxidoreductase 1, 138 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity 0 Dicumarol(DB00266)|Menadione(DB00170) CACCTACCCGGAAGGGTCCTT 0.438 39 258 --- --- --- --- PASS SF3B3 23450 broad.mit.edu 37 16 70578410 70578410 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:70578410C>T uc002ezf.2 + 10 1514 c.1303C>T c.(1303-1305)CTG>TTG p.L435L NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 435 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CCGATCATCTCTGAGAGTCCT 0.443 20 134 --- --- --- --- PASS WDR59 79726 broad.mit.edu 37 16 74990499 74990499 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:74990499G>C uc002fdh.1 - 3 216 c.114C>G c.(112-114)TTC>TTG p.F38L WDR59_uc002fdi.2_Missense_Mutation_p.F38L|WDR59_uc002fdj.2_Missense_Mutation_p.F38L NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 38 ovary(1)|breast(1) 2 CGATGTATAAGAATCTGCGGC 0.398 15 79 --- --- --- --- PASS TRAPPC2L 51693 broad.mit.edu 37 16 88923573 88923573 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr16:88923573C>T uc002fmc.2 + 1 68 c.15C>T c.(13-15)ATC>ATT p.I5I GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Silent_p.I5I|TRAPPC2L_uc002fme.3_Silent_p.I5I|TRAPPC2L_uc002fmf.2_5'Flank NM_016209 NP_057293 Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 5 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) CGGTGTGCATCGCGGTGATTG 0.682 3 11 --- --- --- --- PASS GEMIN4 50628 broad.mit.edu 37 17 648684 648684 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:648684G>A uc002frs.1 - 2 2718 c.2599C>T c.(2599-2601)CAG>TAG p.Q867* NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 867 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TGCCACTCCTGAGGGCTGCAC 0.562 4 38 --- --- --- --- PASS SHPK 23729 broad.mit.edu 37 17 3539509 3539509 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:3539509G>A uc002fvz.1 - 1 108 c.5C>T c.(4-6)GCT>GTT p.A2V CTNS_uc002fwa.2_5'Flank|CTNS_uc002fwb.2_5'Flank|CTNS_uc010ckj.2_5'Flank|CTNS_uc010vrv.1_5'Flank|CTNS_uc010vrw.1_5'Flank NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN carbohydrate kinase-like 2 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity ovary(1) 1 COAD - Colon adenocarcinoma(5;0.0828) CGGCCGCGCAGCCATTATCTC 0.706 5 35 --- --- --- --- PASS SLC16A11 162515 broad.mit.edu 37 17 6945349 6945349 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:6945349C>T uc002gei.1 - 3 1490 c.1152G>A c.(1150-1152)ATG>ATA p.M384I NM_153357 NP_699188 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 384 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1) 1 CCCCGAGGCTCATCAGCATCA 0.637 17 24 --- --- --- --- PASS DLG4 1742 broad.mit.edu 37 17 7095304 7095304 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:7095304G>A uc002get.3 - 20 3214 c.2013C>T c.(2011-2013)CTC>CTT p.L671L DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.L568L|DLG4_uc010cly.2_Silent_p.L625L|DLG4_uc010vto.1_Silent_p.L668L NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 628 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 CCGAGACATCGAGGATGCAGT 0.692 4 27 --- --- --- --- PASS TNFSF13 8741 broad.mit.edu 37 17 7462439 7462439 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:7462439C>G uc002ghk.2 + 1 831 c.83C>G c.(82-84)TCA>TGA p.S28* SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Nonsense_Mutation_p.S28*|TNFSF13_uc002ghl.2_Nonsense_Mutation_p.S28*|TNFSF13_uc010cmk.2_Nonsense_Mutation_p.S28*|TNFSF13_uc010vua.1_Nonsense_Mutation_p.S28* NM_003808 NP_003799 O75888 TNF13_HUMAN tumor necrosis factor ligand superfamily, member 28 mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction extracellular space|nucleoplasm cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Prostate(122;0.157) CCGGCACTCTCAGTTGCCCTC 0.632 8 74 --- --- --- --- PASS TNFSF13 8741 broad.mit.edu 37 17 7462449 7462449 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:7462449C>T uc002ghk.2 + 1 841 c.93C>T c.(91-93)CTC>CTT p.L31L SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Silent_p.L31L|TNFSF13_uc002ghl.2_Silent_p.L31L|TNFSF13_uc010cmk.2_Silent_p.L31L|TNFSF13_uc010vua.1_Silent_p.L31L NM_003808 NP_003799 O75888 TNF13_HUMAN tumor necrosis factor ligand superfamily, member 31 mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction extracellular space|nucleoplasm cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Prostate(122;0.157) CAGTTGCCCTCTGGTTGAGTT 0.637 6 70 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579378 7579378 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:7579378G>T uc002gim.2 - 4 503 c.309C>A c.(307-309)TAC>TAA p.Y103* TP53_uc002gig.1_Nonsense_Mutation_p.Y103*|TP53_uc002gih.2_Nonsense_Mutation_p.Y103*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Y103*|TP53_uc010cni.1_Nonsense_Mutation_p.Y103*|TP53_uc002gij.2_Nonsense_Mutation_p.Y103*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Y64*|TP53_uc010cnk.1_Nonsense_Mutation_p.Y118* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 103 Interaction with HIPK1 (By similarity).||Interaction with WWOX. 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.G59fs*23(3)|p.Y103*(2)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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) AGCTGCCCTGGTAGGTTTTCT 0.637 111 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) 56 53 --- --- --- --- PASS WDR16 146845 broad.mit.edu 37 17 9490041 9490041 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:9490041G>A uc002gly.2 + 3 366 c.297G>A c.(295-297)AAG>AAA p.K99K WDR16_uc002glz.2_Silent_p.K31K|WDR16_uc010coc.2_Silent_p.K109K NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 99 WD 1. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GGGATTATAAGAACAGAGAGC 0.473 37 54 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10450818 10450818 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:10450818C>G uc010coi.2 - 4 450 c.322G>C c.(322-324)GAA>CAA p.E108Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E108Q|MYH2_uc010coj.2_Missense_Mutation_p.E108Q NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 108 Myosin head-like. 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 GCATAACGTTCTTTGAGGTTG 0.488 54 146 --- --- --- --- PASS ELAC2 60528 broad.mit.edu 37 17 12905820 12905820 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:12905820G>C uc002gnz.3 - 13 1251 c.1156C>G c.(1156-1158)CAA>GAA p.Q386E ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.F15L|ELAC2_uc002gnw.3_Missense_Mutation_p.Q44E|ELAC2_uc002gnx.3_Missense_Mutation_p.Q146E|ELAC2_uc010vvo.1_Missense_Mutation_p.Q184E|ELAC2_uc010vvp.1_Missense_Mutation_p.Q367E|ELAC2_uc010vvq.1_Missense_Mutation_p.Q386E|ELAC2_uc010vvr.1_Missense_Mutation_p.Q346E NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 386 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 AGCTGGGTTTGAATCTTGTGG 0.562 Hereditary_Prostate_Cancer OREG0024189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 --- --- --- --- PASS COX10 1352 broad.mit.edu 37 17 13980228 13980228 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:13980228G>C uc002gof.3 + 3 558 c.354G>C c.(352-354)TTG>TTC p.L118F COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 118 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AAAAGGAATTGATAGAACTAG 0.413 34 43 --- --- --- --- PASS FLCN 201163 broad.mit.edu 37 17 17122399 17122399 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:17122399G>A uc002gra.3 - 9 1500 c.996C>T c.(994-996)CTC>CTT p.L332L PLD6_uc010cpn.2_Intron NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 332 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 CACAGCCTGAGAGAGAGGAGG 0.642 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 14 121 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18045066 18045066 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:18045066C>A uc010vxh.1 + 22 5969 c.5631C>A c.(5629-5631)TAC>TAA p.Y1877* NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1877 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CAAACATGTACCGTGTTGGGG 0.557 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 94 --- --- --- --- PASS SMCR8 140775 broad.mit.edu 37 17 18221365 18221365 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:18221365C>T uc002gsy.3 + 1 2772 c.2262C>T c.(2260-2262)GTC>GTT p.V754V NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 754 central_nervous_system(1) 1 CTATCTTTGTCCCCAGCTATG 0.532 26 81 --- --- --- --- PASS CYTSB 92521 broad.mit.edu 37 17 20108650 20108650 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:20108650C>G uc002gwq.2 + 4 1433 c.1288C>G c.(1288-1290)CGA>GGA p.R430G CYTSB_uc010cqx.2_Missense_Mutation_p.R430G|CYTSB_uc002gwr.2_Missense_Mutation_p.R430G|CYTSB_uc002gws.2_Missense_Mutation_p.R430G|CYTSB_uc002gwv.2_Missense_Mutation_p.R349G|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R206G|CYTSB_uc002gwt.2_Missense_Mutation_p.R349G|CYTSB_uc002gwu.2_Missense_Mutation_p.R349G NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 430 nucleus 0 TCATCAGCATCGAGAGAGGGC 0.413 19 90 --- --- --- --- PASS TOP2A 7153 broad.mit.edu 37 17 38555128 38555128 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:38555128G>C uc002huq.2 - 26 3476 c.3350C>G c.(3349-3351)TCC>TGC p.S1117C NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1117 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ATCTGTTACGGAGTCACTCTT 0.353 13 96 --- --- --- --- PASS KRT37 8688 broad.mit.edu 37 17 39578372 39578372 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:39578372C>T uc002hwp.1 - 5 1016 c.969G>A c.(967-969)CTG>CTA p.L323L uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 323 Coil 2.|Rod. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CCGTGCATCTCAGCTCCAGGA 0.602 25 130 --- --- --- --- PASS KRT37 8688 broad.mit.edu 37 17 39578435 39578435 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:39578435G>A uc002hwp.1 - 5 953 c.906C>T c.(904-906)ATC>ATT p.I302I uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 302 Coil 2.|Rod. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CCTGCAGGCTGATGCCTTCAG 0.612 28 127 --- --- --- --- PASS KRT37 8688 broad.mit.edu 37 17 39578672 39578672 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:39578672C>T uc002hwp.1 - 4 794 c.747G>A c.(745-747)CTG>CTA p.L249L uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 249 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GCTGACTCCTCAGAATCTTTA 0.567 28 207 --- --- --- --- PASS SC65 10609 broad.mit.edu 37 17 39968008 39968008 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:39968008C>G uc002hxt.2 - 1 444 c.160G>C c.(160-162)GAG>CAG p.E54Q FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.E145Q NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 54 synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) CGCGCGCTCTCGCGCCAGCTC 0.741 2 6 --- --- --- --- PASS LRRC37A 9884 broad.mit.edu 37 17 44408844 44408844 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:44408844G>A uc002ikg.2 + 9 4204 c.4201G>A c.(4201-4203)GAT>AAT p.D1401N ARL17A_uc002iki.3_Intron|ARL17A_uc002ikh.3_Intron|ARL17B_uc002ikf.2_Intron|LRRC37A_uc002ikj.2_Missense_Mutation_p.D362N|LRRC37A_uc010daw.1_Missense_Mutation_p.D331N NM_014834 NP_055649 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A precursor 1401 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TGAAGAAAATGATTTTATGGA 0.373 9 52 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48687294 48687294 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:48687294C>G uc002irk.1 + 26 5129 c.4757C>G c.(4756-4758)TCA>TGA p.S1586* CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Nonsense_Mutation_p.S1586*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.S1586*|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002iru.1_Intron|CACNA1G_uc002irx.1_Nonsense_Mutation_p.S1499*|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Nonsense_Mutation_p.S1499*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.S1465*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.S1506*|CACNA1G_uc002isc.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Nonsense_Mutation_p.S1442* NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1586 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCGCTGCGTCAGGTACTGCG 0.567 18 27 --- --- --- --- PASS COX11 1353 broad.mit.edu 37 17 53040696 53040696 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:53040696C>G uc010wng.1 - 3 676 c.619G>C c.(619-621)GAA>CAA p.E207Q COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.E207Q NM_004375 NP_004366 Q9Y6N1 COX11_HUMAN COX11 homolog, cytochrome c oxidase assembly 207 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential). respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity ovary(1) 1 TGTCCAGCTTCAAATGGAACA 0.353 12 88 --- --- --- --- PASS OR4D1 26689 broad.mit.edu 37 17 56232861 56232861 + Nonsense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:56232861C>G uc010wno.1 + 1 347 c.347C>G c.(346-348)TCA>TGA p.S116* MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTTTTCTCTCAGTCATGGCC 0.542 41 72 --- --- --- --- PASS RNF43 54894 broad.mit.edu 37 17 56438267 56438267 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:56438267C>T uc002iwf.2 - 6 2682 c.726G>A c.(724-726)CAG>CAA p.Q242Q RNF43_uc010wnv.1_Silent_p.Q201Q|RNF43_uc002iwh.3_Silent_p.Q242Q|RNF43_uc002iwg.3_Silent_p.Q242Q|RNF43_uc010dcw.2_Silent_p.Q115Q NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 242 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGTGGCCAGCTGGCTGATGG 0.657 26 30 --- --- --- --- PASS RPS6KB1 6198 broad.mit.edu 37 17 58024015 58024015 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:58024015G>C uc002ixy.2 + 15 1547 c.1444G>C c.(1444-1446)GAG>CAG p.E482Q RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Missense_Mutation_p.E429Q|RPS6KB1_uc010won.1_Missense_Mutation_p.E459Q|RPS6KB1_uc010woo.1_Missense_Mutation_p.E417Q|RPS6KB1_uc002ixz.2_RNA NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 482 Autoinhibitory domain. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) AAGTGGCATAGAGCAGATGGA 0.493 10 76 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60837358 60837358 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:60837358C>T uc010ddr.2 - 4 458 c.220G>A c.(220-222)GAG>AAG p.E74K MARCH10_uc002jag.3_Missense_Mutation_p.E74K|MARCH10_uc010dds.2_Missense_Mutation_p.E74K|MARCH10_uc002jah.2_Missense_Mutation_p.E74K NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 74 ligase activity|zinc ion binding 0 GCATCCTCCTCACTAGAACTC 0.418 12 128 --- --- --- --- PASS ACE 1636 broad.mit.edu 37 17 61557861 61557861 + Silent SNP C T T rs148882466 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:61557861C>T uc002jau.1 + 5 841 c.819C>T c.(817-819)CTC>CTT p.L273L ACE_uc010wpi.1_Silent_p.L273L|ACE_uc010ddu.1_Silent_p.L90L NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 273 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACATCAACCTCAGGGGACCCA 0.612 14 146 --- --- --- --- PASS DDX42 11325 broad.mit.edu 37 17 61889493 61889493 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:61889493C>G uc002jbu.2 + 15 1857 c.1600C>G c.(1600-1602)CAG>GAG p.Q534E DDX42_uc002jbv.2_Missense_Mutation_p.Q534E|DDX42_uc002jbw.1_Missense_Mutation_p.Q270E|DDX42_uc002jbx.2_Missense_Mutation_p.Q270E|DDX42_uc002jby.2_Missense_Mutation_p.Q80E NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 534 Helicase C-terminal. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 GGATATGGATCAGAGTGAGAG 0.428 24 135 --- --- --- --- PASS POLG2 11232 broad.mit.edu 37 17 62487068 62487068 + Missense_Mutation SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:62487068T>G uc002jei.2 - 4 897 c.814A>C c.(814-816)AAC>CAC p.N272H POLG2_uc010deg.1_Missense_Mutation_p.N272H NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 272 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CTGCTGAAGTTAGATGGACTC 0.343 52 71 --- --- --- --- PASS RHBDF2 79651 broad.mit.edu 37 17 74473802 74473802 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:74473802C>T uc002jrq.1 - 7 1118 c.825G>A c.(823-825)CCG>CCA p.P275P RHBDF2_uc002jrp.1_Silent_p.P246P|RHBDF2_uc002jrr.1_Silent_p.P127P|RHBDF2_uc010wtf.1_Silent_p.P246P|RHBDF2_uc002jrs.1_Silent_p.P270P NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 275 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 CCAGGAAGCTCGGGAAGGCAA 0.627 38 109 --- --- --- --- PASS ST6GALNAC1 55808 broad.mit.edu 37 17 74623247 74623247 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:74623247C>T uc002jsh.2 - 4 1248 c.1074G>A c.(1072-1074)GGG>GGA p.G358G ST6GALNAC1_uc002jsi.2_Silent_p.G226G|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 358 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 ACCGGAGGCTCCCAGCGGGGA 0.632 7 46 --- --- --- --- PASS JMJD6 23210 broad.mit.edu 37 17 74717909 74717909 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:74717909C>A uc002jso.2 - 4 1236 c.912G>T c.(910-912)GGG>GGT p.G304G JMJD6_uc002jsn.1_Silent_p.G304G|JMJD6_uc010dgz.2_Silent_p.G304G NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 isoform 2 304 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding skin(2)|ovary(1) 3 ACTTTGGTCTCCCTCTTACCG 0.443 13 104 --- --- --- --- PASS JMJD6 23210 broad.mit.edu 37 17 74718008 74718008 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:74718008C>G uc002jso.2 - 4 1137 c.813G>C c.(811-813)TGG>TGC p.W271C JMJD6_uc002jsn.1_Missense_Mutation_p.W271C|JMJD6_uc010dgz.2_Missense_Mutation_p.W271C NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 isoform 2 271 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding skin(2)|ovary(1) 3 CAACATGCCACCAGCCTCCTG 0.443 7 49 --- --- --- --- PASS HGS 9146 broad.mit.edu 37 17 79658588 79658588 + Missense_Mutation SNP G C C rs142599461 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:79658588G>C uc002kbg.2 + 8 726 c.649G>C c.(649-651)GAG>CAG p.E217Q HGS_uc010wus.1_Missense_Mutation_p.E217Q NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 217 FYVE-type. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCCCTGCTACGAGCAGCTGAA 0.602 22 165 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79801953 79801953 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:79801953C>G uc002kbn.1 - 11 1659 c.1462G>C c.(1462-1464)GAA>CAA p.E488Q P4HB_uc002kbl.1_Missense_Mutation_p.E165Q|P4HB_uc002kbm.1_Missense_Mutation_p.E165Q NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 488 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCTGCTTCTTCCAGGTCCTCG 0.607 63 179 --- --- --- --- PASS CEP76 79959 broad.mit.edu 37 18 12678316 12678316 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:12678316G>A uc002kri.2 - 10 1571 c.1415C>T c.(1414-1416)TCT>TTT p.S472F PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.S294F|CEP76_uc010wzz.1_Missense_Mutation_p.S397F NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 472 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 TACTGCATCAGAGGGTTGACA 0.433 8 315 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13621222 13621222 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:13621222C>T uc002ksa.2 + 5 956 c.288C>T c.(286-288)TTC>TTT p.F96F C18orf1_uc002ksb.2_Silent_p.F96F|C18orf1_uc002kse.2_Silent_p.F59F|C18orf1_uc002ksf.2_Silent_p.F59F|C18orf1_uc002ksg.1_Silent_p.F19F|C18orf1_uc002ksh.1_Silent_p.F38F|C18orf1_uc002ksi.1_Silent_p.F38F NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 96 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CGCGGTCCTTCATCAACCGCC 0.622 16 124 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18588119 18588119 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:18588119G>C uc002kte.2 - 14 2388 c.1447C>G c.(1447-1449)CAG>GAG p.Q483E NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 483 Interaction with FHOD1.|Potential.|REM. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TTCTCAATCTGAGACACTGTA 0.333 7 94 --- --- --- --- PASS SNRPD1 6632 broad.mit.edu 37 18 19202685 19202685 + Splice_Site SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:19202685G>A uc002ktj.1 + 2 146 c.15_splice c.e2-1 p.R5_splice NM_006938 NP_008869 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding 0 CCTATTTATAGATTTTTGATG 0.343 4 62 --- --- --- --- PASS HRH4 59340 broad.mit.edu 37 18 22057141 22057141 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:22057141C>T uc002kvi.2 + 3 888 c.788C>T c.(787-789)TCA>TTA p.S263L HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.S175L NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 263 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) ATGTTTTCCTCAAGAACCAAG 0.418 32 244 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28710533 28710533 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:28710533G>T uc002kwn.2 - 16 2891 c.2629C>A c.(2629-2631)CTA>ATA p.L877I DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 877 Cytoplasmic (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGGTGATCTAGAAACTCCAGT 0.428 19 271 --- --- --- --- PASS SLC39A6 25800 broad.mit.edu 37 18 33691181 33691181 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:33691181C>T uc010dmy.2 - 9 2246 c.1956G>A c.(1954-1956)ATG>ATA p.M652I SLC39A6_uc002kzj.2_Missense_Mutation_p.M377I NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 652 Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 GCTTAACGGTCATGCCAGCCT 0.378 5 84 --- --- --- --- PASS SLC39A6 25800 broad.mit.edu 37 18 33696661 33696661 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:33696661C>T uc010dmy.2 - 6 1731 c.1441G>A c.(1441-1443)GAG>AAG p.E481K SLC39A6_uc002kzj.2_Missense_Mutation_p.E206K NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 481 Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 ACTTTCTCCTCATTTGTTGAA 0.368 25 79 --- --- --- --- PASS ATP5A1 498 broad.mit.edu 37 18 43667006 43667006 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:43667006G>C uc002lbr.1 - 8 1234 c.1144C>G c.(1144-1146)CCA>GCA p.P382A ATP5A1_uc010dnl.1_Missense_Mutation_p.P332A|ATP5A1_uc002lbs.1_Missense_Mutation_p.P332A|ATP5A1_uc002lbt.1_Missense_Mutation_p.P382A NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 382 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 ACATTTGTTGGAATGTAAGCA 0.398 7 122 --- --- --- --- PASS SKA1 220134 broad.mit.edu 37 18 47918511 47918511 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:47918511C>G uc002let.2 + 7 846 c.662C>G c.(661-663)ACT>AGT p.T221S SKA1_uc002leu.2_Missense_Mutation_p.T221S|SKA1_uc010xdl.1_Missense_Mutation_p.T175S NM_145060 NP_659497 Q96BD8 SKA1_HUMAN spindle and KT associated 1 221 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 GAGTTCACAACTTTGAAAGCT 0.373 49 179 --- --- --- --- PASS ZCCHC2 54877 broad.mit.edu 37 18 60242387 60242387 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:60242387G>T uc002lip.3 + 13 3073 c.3073G>T c.(3073-3075)GGA>TGA p.G1025* ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Nonsense_Mutation_p.G495* NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1025 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.G1025*(1) lung(1)|prostate(1) 2 TGGGACCAATGGAAACCTTCA 0.502 15 61 --- --- --- --- PASS SERPINB5 5268 broad.mit.edu 37 18 61160267 61160267 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:61160267G>C uc002liz.3 + 5 648 c.506G>C c.(505-507)GGC>GCC p.G169A SERPINB5_uc002liy.2_Missense_Mutation_p.G169A NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 169 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 TACTTTGTTGGCAAGTGGATG 0.408 106 172 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61223515 61223515 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:61223515G>T uc010xen.1 + 1 123 c.123G>T c.(121-123)ATG>ATT p.M41I SERPINB12_uc010xeo.1_Missense_Mutation_p.M41I NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 41 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 CCCTTGGTATGGTACGCTTGG 0.453 83 280 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61305057 61305057 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:61305057G>C uc002ljf.2 - 8 1155 c.1069C>G c.(1069-1071)CCT>GCT p.P357A SERPINB4_uc002lje.2_Missense_Mutation_p.P336A|SERPINB4_uc002ljg.2_Missense_Mutation_p.P357A NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 357 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TTAGTTGAAGGAGATGATAAT 0.453 9 139 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417779 70417779 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:70417779C>T uc002lkw.2 - 9 1343 c.1059G>A c.(1057-1059)GTG>GTA p.V353V NETO1_uc002lkx.1_Silent_p.V352V|NETO1_uc002lky.1_Silent_p.V353V NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 353 Helical; (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) TGAGGATGATCACGATGCAGG 0.468 11 120 --- --- --- --- PASS FBXO15 201456 broad.mit.edu 37 18 71793322 71793322 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:71793322G>C uc002lle.2 - 6 908 c.572C>G c.(571-573)TCT>TGT p.S191C FBXO15_uc002llf.2_Missense_Mutation_p.S267C NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 191 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGCAATTAAAGAATGCCATCG 0.438 48 105 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77246387 77246387 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr18:77246387C>T uc010xfg.1 + 9 2685 c.2232C>T c.(2230-2232)CTC>CTT p.L744L NFATC1_uc002lnd.2_Silent_p.L744L|NFATC1_uc002lne.2_Silent_p.L272L|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.L272L|NFATC1_uc002lnf.2_Silent_p.L731L|NFATC1_uc002lng.2_Silent_p.L731L|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 744 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GCTCCTGCCTCGTGGCCGGCT 0.662 26 331 --- --- --- --- PASS C19orf21 126353 broad.mit.edu 37 19 757477 757477 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:757477G>T uc002lpo.2 + 2 614 c.531G>T c.(529-531)CGG>CGT p.R177R NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 177 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) GCCCACCTCGGTCCACGCCCC 0.672 6 7 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1049354 1049354 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:1049354C>T uc002lqw.3 + 18 2701 c.2470C>T c.(2470-2472)CTG>TTG p.L824L ABCA7_uc010dsb.1_Silent_p.L686L NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 824 ABC transporter 1. 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) GCAGCCAGCCCTGCGGGGGCT 0.672 13 108 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1049377 1049377 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:1049377C>T uc002lqw.3 + 18 2724 c.2493C>T c.(2491-2493)TTC>TTT p.F831F ABCA7_uc010dsb.1_Silent_p.F693F NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 831 ABC transporter 1. 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) GCCTGGACTTCTACCAGGGCC 0.701 9 102 --- --- --- --- PASS MIDN 90007 broad.mit.edu 37 19 1251880 1251880 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:1251880G>C uc002lrp.2 + 4 879 c.364G>C c.(364-366)GAG>CAG p.E122Q NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 122 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAAGCTCTCGAGAGTCTCAC 0.632 17 46 --- --- --- --- PASS DAZAP1 26528 broad.mit.edu 37 19 1418235 1418235 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:1418235G>A uc002lsn.2 + 3 292 c.103G>A c.(103-105)GAA>AAA p.E35K DAZAP1_uc002lsm.2_Missense_Mutation_p.E35K|DAZAP1_uc002lso.2_Missense_Mutation_p.E35K|DAZAP1_uc002lsl.1_Missense_Mutation_p.E35K NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 35 RRM 1. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) CCAATATGGAGAAGTCGTAGA 0.478 13 108 --- --- --- --- PASS DAZAP1 26528 broad.mit.edu 37 19 1418262 1418262 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:1418262G>A uc002lsn.2 + 3 319 c.130G>A c.(130-132)GAT>AAT p.D44N DAZAP1_uc002lsm.2_Missense_Mutation_p.D44N|DAZAP1_uc002lso.2_Missense_Mutation_p.D44N|DAZAP1_uc002lsl.1_Missense_Mutation_p.D44N NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 44 RRM 1. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TATCATGAAAGATAAAACCAC 0.483 17 117 --- --- --- --- PASS ZNF554 115196 broad.mit.edu 37 19 2834766 2834766 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:2834766G>C uc002lwm.2 + 5 1731 c.1533G>C c.(1531-1533)CAG>CAC p.Q511H ZNF554_uc002lwl.2_Missense_Mutation_p.Q460H NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 511 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) TCACACATCAGAAAACTCACA 0.468 14 114 --- --- --- --- PASS TLE2 7089 broad.mit.edu 37 19 3005560 3005560 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:3005560C>T uc002lww.2 - 17 2034 c.1771G>A c.(1771-1773)GGC>AGC p.G591S TLE2_uc010xhb.1_Missense_Mutation_p.G258S|TLE2_uc010dth.2_Missense_Mutation_p.G592S|TLE2_uc010xhc.1_Missense_Mutation_p.G469S|TLE2_uc010dti.2_Missense_Mutation_p.G605S NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 591 WD 4. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCTGGCGCCGTCCGTGTGG 0.657 4 34 --- --- --- --- PASS MIR7-3 407045 broad.mit.edu 37 19 4770786 4770786 + RNA SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:4770786T>G hsa-mir-7-3|MI0000265 + c.105T>G C19orf30_uc002mbd.2_Intron|C19orf30_uc002mbe.2_Intron|C19orf30_uc010xii.1_Intron|uc010xij.1_RNA 0 GCAGACTCCCTTCGACCTTCG 0.582 29 102 --- --- --- --- PASS DUS3L 56931 broad.mit.edu 37 19 5785253 5785253 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:5785253G>A uc002mdc.2 - 13 2011 c.1914C>T c.(1912-1914)TTC>TTT p.F638F PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.F396F NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 638 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 GCAAGAAGGCGAAGCTGGGGG 0.587 5 24 --- --- --- --- PASS MBD3L1 85509 broad.mit.edu 37 19 8953558 8953558 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:8953558G>C uc002mko.2 + 1 290 c.204G>C c.(202-204)CAG>CAC p.Q68H NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 68 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TCTGCTGGCAGAGGAGACTGC 0.507 27 110 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9070300 9070300 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:9070300T>A uc002mkp.2 - 3 17350 c.17146A>T c.(17146-17148)ACA>TCA p.T5716S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5718 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 GCAGTGTTTGTATGCATGGAA 0.493 19 92 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091316 9091316 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:9091316C>T uc002mkp.2 - 1 703 c.499G>A c.(499-501)GAG>AAG p.E167K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 167 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 GTTGAGGTCTCAGTGGGGACT 0.443 39 77 --- --- --- --- PASS CDC37 11140 broad.mit.edu 37 19 10506652 10506652 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:10506652C>G uc002mof.1 - 2 446 c.330G>C c.(328-330)AAG>AAC p.K110N CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.K110N|CDC37_uc002moh.2_Missense_Mutation_p.K110N NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 110 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AGGGCATGCTCTTCTCCTTCT 0.672 32 232 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10610666 10610666 + Missense_Mutation SNP C A A rs144429440 byFrequency TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:10610666C>A uc002moq.1 - 2 200 c.44G>T c.(43-45)CGA>CTA p.R15L KEAP1_uc002mor.1_Missense_Mutation_p.R15L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGGCAGGAATCGGCAGCAGGC 0.662 3 80 --- --- --- --- PASS ATG4D 84971 broad.mit.edu 37 19 10663612 10663612 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:10663612G>A uc002mov.2 + 10 1414 c.1294G>A c.(1294-1296)GAG>AAG p.E432K ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 432 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CACCCTGGCCGAGGGCCATGC 0.662 12 169 --- --- --- --- PASS KRI1 65095 broad.mit.edu 37 19 10664823 10664823 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:10664823G>A uc002moy.1 - 19 1943 c.1934C>T c.(1933-1935)TCA>TTA p.S645L KRI1_uc002mow.1_Missense_Mutation_p.S264L|KRI1_uc002mox.1_Missense_Mutation_p.S641L NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 645 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CTTGTGGGGTGATACAGGGGC 0.647 24 203 --- --- --- --- PASS ZNF441 126068 broad.mit.edu 37 19 11891126 11891126 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:11891126C>T uc010dyj.2 + 4 681 c.487C>T c.(487-489)CAG>TAG p.Q163* ZNF441_uc002msn.3_Nonsense_Mutation_p.Q119* NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAAGACCTCAGCATGGAAA 0.423 13 124 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12461659 12461659 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:12461659G>C uc002mtr.1 - 6 1351 c.740C>G c.(739-741)CCT>CGT p.P247R ZNF442_uc010xmk.1_Missense_Mutation_p.P178R NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 247 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 ACTGTAAATAGGGAAGGCTTT 0.408 23 286 --- --- --- --- PASS FARSA 2193 broad.mit.edu 37 19 13035011 13035011 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:13035011G>A uc002mvs.2 - 12 1390 c.1342C>T c.(1342-1344)CTT>TTT p.L448F FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.L417F|FARSA_uc010dyy.1_Missense_Mutation_p.L369F NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 448 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) TTCTCGGGAAGCCCCATGGGC 0.607 10 170 --- --- --- --- PASS BRD4 23476 broad.mit.edu 37 19 15350616 15350616 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:15350616G>A uc002nar.2 - 16 3521 c.3299C>T c.(3298-3300)TCC>TTC p.S1100F NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1100 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTGGACCACGGAGGCAGCACG 0.706 T NUT|C15orf55 lethal midline carcinoma of young people 10 76 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 16008360 16008360 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:16008360A>G uc002nbs.1 - 2 112 c.62T>C c.(61-63)CTC>CCC p.L21P CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 21 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CAGCAGGAGGAGCAGCCAAGG 0.662 13 27 --- --- --- --- PASS AP1M1 8907 broad.mit.edu 37 19 16339738 16339738 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:16339738C>T uc002ndu.2 + 9 1219 c.1046C>T c.(1045-1047)CCG>CTG p.P349L AP1M1_uc002ndv.2_Missense_Mutation_p.P361L|AP1M1_uc010xpd.1_Intron NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 349 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 AAGTCCTTCCCGGTGAGCACT 0.617 9 53 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17476334 17476334 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:17476334C>A uc002ngk.1 - 3 990 c.940G>T c.(940-942)GGC>TGC p.G314C NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 314 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GCCCGCAGGCCCTGCTGGGCT 0.667 28 58 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17643149 17643149 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:17643149C>T uc010xpr.1 + 4 495 c.357C>T c.(355-357)TTC>TTT p.F119F FAM129C_uc010xpq.1_Silent_p.F119F|FAM129C_uc010xps.1_Silent_p.F88F|FAM129C_uc010xpt.1_RNA NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 119 0 AGCCGATCTTCTGTGTTCTGC 0.652 18 148 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17653073 17653073 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:17653073C>T uc010xpr.1 + 11 1530 c.1392C>T c.(1390-1392)CTC>CTT p.L464L FAM129C_uc010xpq.1_Silent_p.L464L|FAM129C_uc002ngy.3_Silent_p.L190L|FAM129C_uc010xpu.1_Silent_p.L190L|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.L190L|FAM129C_uc002nhb.2_Silent_p.L63L NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 464 0 TGCAGAGCCTCGTGTTTGGGG 0.552 28 218 --- --- --- --- PASS JUND 3727 broad.mit.edu 37 19 18391933 18391933 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:18391933G>A uc002nip.2 - 1 500 c.362C>T c.(361-363)TCA>TTA p.S121L hsa-mir-3188|MI0014232_5'Flank NM_005354 NP_005345 P17535 JUND_HUMAN jun D proto-oncogene 121 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 GAGGAACTGTGAGCTCGTCGG 0.657 7 18 --- --- --- --- PASS UPF1 5976 broad.mit.edu 37 19 18964156 18964156 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:18964156G>C uc002nkg.2 + 8 1461 c.1186G>C c.(1186-1188)GAT>CAT p.D396H UPF1_uc002nkf.2_Missense_Mutation_p.D385H NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 396 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAAGGTCCCTGATAGTATCCT 0.587 9 50 --- --- --- --- PASS HOMER3 9454 broad.mit.edu 37 19 19043761 19043761 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:19043761C>T uc002nku.2 - 5 1158 c.505G>A c.(505-507)GAG>AAG p.E169K HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.E133K|HOMER3_uc010ebz.2_Missense_Mutation_p.E169K|HOMER3_uc002nkw.2_Missense_Mutation_p.E169K|HOMER3_uc002nkv.2_Missense_Mutation_p.E169K NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 169 metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) TTTAGCCGCTCGCGCTCTGTG 0.428 11 53 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21131580 21131580 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:21131580G>C uc002npg.3 + 4 387 c.260G>C c.(259-261)TGG>TCG p.W87S ZNF85_uc010ecn.2_Missense_Mutation_p.W22S|ZNF85_uc010eco.2_Missense_Mutation_p.W35S|ZNF85_uc002npi.2_Missense_Mutation_p.W28S NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 87 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 CAAGACCTTTGGCCGGAGCAG 0.323 9 137 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21299680 21299680 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:21299680G>A uc002npo.3 + 5 570 c.210G>A c.(208-210)GTG>GTA p.V70V ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.V22V|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAACAAGTGATACTGAGAA 0.353 8 77 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21476864 21476864 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:21476864G>A uc002npq.1 - 4 1102 c.904C>T c.(904-906)CAT>TAT p.H302Y ZNF708_uc002npr.1_Missense_Mutation_p.H238Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H238Y NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 302 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 TCTCCAGTATGAATTTTCTTG 0.378 7 100 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941883 22941883 + Splice_Site SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:22941883C>A uc010xrh.1 - 5 556 c.556_splice c.e5-1 p.I186_splice NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGAATTATCTTATGTTTCA 0.338 14 45 --- --- --- --- PASS CCNE1 898 broad.mit.edu 37 19 30308042 30308042 + Splice_Site SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:30308042A>G uc002nsn.2 + 5 364 c.181_splice c.e5-2 p.P61_splice CCNE1_uc002nso.2_Splice_Site_p.P46_splice NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TTTCATTTACAGCCTTGGGAC 0.443 29 96 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934871 30934871 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:30934871C>A uc002nsu.1 + 2 540 c.402C>A c.(400-402)CTC>CTA p.L134L ZNF536_uc010edd.1_Silent_p.L134L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 134 C2H2-type 1. 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) CGTGCCCACTCTGCGGCAAGC 0.627 26 55 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31767814 31767814 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:31767814C>T uc002nsy.3 - 2 2950 c.2885G>A c.(2884-2886)GGA>GAA p.G962E NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 962 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) GAACTTTGTTCCACCTGTCCT 0.532 29 72 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768045 31768045 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:31768045G>T uc002nsy.3 - 2 2719 c.2654C>A c.(2653-2655)TCG>TAG p.S885* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 885 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) GGCGGGCGTCGACTCCTCAGC 0.607 16 56 --- --- --- --- PASS ZNF507 22847 broad.mit.edu 37 19 32844576 32844576 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:32844576C>G uc002nte.2 + 3 1112 c.840C>G c.(838-840)ATC>ATG p.I280M ZNF507_uc002ntc.2_Missense_Mutation_p.I280M|ZNF507_uc010xrn.1_Missense_Mutation_p.I280M|ZNF507_uc002ntd.2_Missense_Mutation_p.I280M NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) CCTATCCAATCTTTGAAAATG 0.473 18 196 --- --- --- --- PASS GPI 2821 broad.mit.edu 37 19 34890129 34890129 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:34890129C>A uc002nvg.1 + 15 1390 c.1287C>A c.(1285-1287)TTC>TTA p.F429L GPI_uc002nvf.2_Missense_Mutation_p.F468L|GPI_uc010xrv.1_Missense_Mutation_p.F440L|GPI_uc010xrw.1_Missense_Mutation_p.F401L|GPI_uc010edl.1_Missense_Mutation_p.F429L|GPI_uc002nvi.1_Missense_Mutation_p.F92L NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 429 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) TGGCCAACTTCTTGGCCCAGA 0.587 5 40 --- --- --- --- PASS GRAMD1A 57655 broad.mit.edu 37 19 35514178 35514178 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:35514178A>G uc010xse.1 + 18 2029 c.1892A>G c.(1891-1893)TAC>TGC p.Y631C GRAMD1A_uc002nxk.2_Missense_Mutation_p.Y620C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.Y393C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.Y632C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.Y242C NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 631 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTGCTCTTCTACCGCCTCTGG 0.582 154 188 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35832500 35832500 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:35832500G>A uc010edt.2 + 8 1839 c.1762G>A c.(1762-1764)GAA>AAA p.E588K CD22_uc010xst.1_Missense_Mutation_p.E416K|CD22_uc010edu.2_Missense_Mutation_p.E500K|CD22_uc010edv.2_Missense_Mutation_p.E588K|CD22_uc002nzb.3_Missense_Mutation_p.E411K|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 588 Extracellular (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGGACACTTGAAGTGCTGTG 0.597 27 61 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38689091 38689091 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:38689091G>T uc002ohk.2 + 19 5412 c.4903G>T c.(4903-4905)GAC>TAC p.D1635Y NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1635 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCGGCGCCTGGACCCTGGGCT 0.672 26 145 --- --- --- --- PASS YIF1B 90522 broad.mit.edu 37 19 38799948 38799948 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:38799948G>A uc002ohz.2 - 3 367 c.318C>T c.(316-318)ATC>ATT p.I106I YIF1B_uc002ohw.2_Silent_p.I75I|YIF1B_uc002ohx.2_Silent_p.I91I|YIF1B_uc010xtx.1_Silent_p.I89I|YIF1B_uc010xty.1_Silent_p.I75I|YIF1B_uc002oia.2_Silent_p.I103I|YIF1B_uc002ohy.2_Silent_p.I103I|YIF1B_uc002oib.2_Silent_p.I103I NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B isoform 5 106 Cytoplasmic (Potential). integral to membrane 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGAGCTTGGTGATGGGGATGA 0.607 35 142 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42490037 42490037 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:42490037G>T uc002osg.2 - 6 739 c.585C>A c.(583-585)ATC>ATA p.I195I ATP1A3_uc010xwf.1_Silent_p.I206I|ATP1A3_uc010xwg.1_Silent_p.I165I|ATP1A3_uc010xwh.1_Silent_p.I208I|ATP1A3_uc002osh.2_Silent_p.I195I NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 195 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGGCTGAGATGATCCGCAGGT 0.483 37 155 --- --- --- --- PASS CIC 23152 broad.mit.edu 37 19 42794394 42794394 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:42794394C>T uc002otf.1 + 10 1514 c.1474C>T c.(1474-1476)CGG>TGG p.R492W NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 492 R -> W (de novo variant found in a patient with mental retardation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GGGCTTTGGTCGGAAGGTGTT 0.627 T DUX4 soft tissue sarcoma 12 213 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46811549 46811549 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:46811549G>C uc002peh.2 + 4 464 c.435G>C c.(433-435)CTG>CTC p.L145L HIF3A_uc002pef.1_Silent_p.L145L|HIF3A_uc002peg.3_Silent_p.L145L|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.L89L|HIF3A_uc002pej.1_Silent_p.L76L|HIF3A_uc002pek.2_Silent_p.L89L|HIF3A_uc010xxy.1_Silent_p.L76L|HIF3A_uc002pel.2_Silent_p.L143L|HIF3A_uc010xxz.1_Silent_p.L94L NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 145 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGGACGCCCTGACCCCCCAGC 0.502 21 150 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47197343 47197343 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:47197343G>A uc002pfh.2 - 11 1707 c.1365C>T c.(1363-1365)TTC>TTT p.F455F PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Silent_p.F298F|PRKD2_uc002pfi.2_Silent_p.F455F|PRKD2_uc002pfj.2_Silent_p.F455F|PRKD2_uc010xye.1_Silent_p.F455F|PRKD2_uc002pfk.2_Silent_p.F298F NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 455 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCACAAGGCTGAAGTTCTGGG 0.607 10 96 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47422077 47422077 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:47422077G>T uc010ekv.2 + 1 145 c.145G>T c.(145-147)GAG>TAG p.E49* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 49 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GAGTGCTGACGAGTTTCACTT 0.537 39 107 --- --- --- --- PASS CRX 1406 broad.mit.edu 37 19 48342941 48342941 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:48342941C>T uc002phq.3 + 4 821 c.617C>T c.(616-618)TCC>TTC p.S206F NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 206 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCTTCCCCCTCCGCCTATGGG 0.682 45 168 --- --- --- --- PASS CRX 1406 broad.mit.edu 37 19 48343180 48343180 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:48343180C>T uc002phq.3 + 4 1060 c.856C>T c.(856-858)CTG>TTG p.L286L NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 286 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CATGGACCCTCTGGACTACAA 0.547 64 240 --- --- --- --- PASS NUCB1 4924 broad.mit.edu 37 19 49409111 49409111 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:49409111C>G uc002plb.3 + 4 417 c.345C>G c.(343-345)CTC>CTG p.L115L NUCB1_uc002pla.2_Silent_p.L115L|NUCB1_uc002plc.2_Silent_p.L115L NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 115 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GGATGCTGCTCAAGGCCAAGA 0.672 29 36 --- --- --- --- PASS NTF4 4909 broad.mit.edu 37 19 49564991 49564991 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:49564991C>G uc002pmf.3 - 2 405 c.264G>C c.(262-264)GCG>GCC p.A88A CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 88 A -> V. adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CCCGACGACTCGCTGGTGCAG 0.692 3 29 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49637089 49637089 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:49637089C>T uc002pmr.2 + 10 1530 c.1198C>T c.(1198-1200)CGG>TGG p.R400W PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.R324W|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R268W NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 400 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGAGCGGCTTCGGCAGCTGGA 0.627 11 30 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50099552 50099552 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:50099552C>T uc002poo.3 + 4 1960 c.1960C>T c.(1960-1962)CGG>TGG p.R654W NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CAGCCCTCCTCGGACCTCAGG 0.706 8 21 --- --- --- --- PASS AP2A1 160 broad.mit.edu 37 19 50306555 50306555 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:50306555C>T uc002ppn.2 + 19 2543 c.2332C>T c.(2332-2334)CTC>TTC p.L778F AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.L756F|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 778 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CCGCATGTATCTCTTCTATGG 0.602 8 68 --- --- --- --- PASS ZNF468 90333 broad.mit.edu 37 19 53344268 53344268 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:53344268C>G uc002qaf.2 - 4 1430 c.1279G>C c.(1279-1281)GAA>CAA p.E427Q ZNF468_uc002qae.2_Missense_Mutation_p.E374Q NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 427 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) CTGTGTCTTTCCAGGTTTGAT 0.418 32 200 --- --- --- --- PASS MBOAT7 79143 broad.mit.edu 37 19 54677872 54677872 + Missense_Mutation SNP T G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:54677872T>G uc002qdq.2 - 9 1551 c.1285A>C c.(1285-1287)ATC>CTC p.I429L TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.I113L|MBOAT7_uc010yem.1_Missense_Mutation_p.I411L|MBOAT7_uc002qdr.2_Missense_Mutation_p.I429L|MBOAT7_uc002qds.2_Missense_Mutation_p.I356L|MBOAT7_uc010yen.1_Missense_Mutation_p.I356L NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 429 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGAAGTAGATGGAGGCCCAG 0.642 12 131 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56235397 56235397 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:56235397C>G uc002qly.2 - 4 2136 c.2108G>C c.(2107-2109)AGA>ACA p.R703T NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 703 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACACAGGTGTCTGATGTCAGA 0.473 21 118 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640692 57640692 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:57640692G>C uc002qny.2 + 4 1005 c.649G>C c.(649-651)GAA>CAA p.E217Q NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 217 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAGGATTTAGAAAAAGATAG 0.368 21 143 --- --- --- --- PASS ZNF530 348327 broad.mit.edu 37 19 58118674 58118674 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:58118674G>T uc002qpk.2 + 3 2001 c.1781G>T c.(1780-1782)AGA>ATA p.R594I ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 594 C2H2-type 13. 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) TTAAGACACAGAAGAGTTCAT 0.299 7 81 --- --- --- --- PASS ZNF586 54807 broad.mit.edu 37 19 58288012 58288012 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:58288012G>C uc002qqd.2 + 2 324 c.138G>C c.(136-138)GAG>GAC p.E46D ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Intron|ZNF586_uc010euh.2_Missense_Mutation_p.E3D|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGATGCTGGAGACCTTGACAC 0.478 41 315 --- --- --- --- PASS ZNF606 80095 broad.mit.edu 37 19 58490799 58490799 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:58490799G>C uc002qqw.2 - 7 1867 c.1249C>G c.(1249-1251)CAA>GAA p.Q417E ZNF606_uc010yhp.1_Missense_Mutation_p.Q327E NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 417 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTCTTATGTTGAATAAGGTAA 0.393 20 121 --- --- --- --- PASS ZNF274 10782 broad.mit.edu 37 19 58723025 58723025 + Nonsense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr19:58723025G>T uc002qrq.1 + 9 1411 c.952G>T c.(952-954)GAG>TAG p.E318* ZNF274_uc002qrr.1_Nonsense_Mutation_p.E286*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.E213*|ZNF274_uc010eum.1_Nonsense_Mutation_p.E77* NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 318 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TGTGATGCTGGAGACCTTTGG 0.642 34 126 --- --- --- --- PASS SPEF1 25876 broad.mit.edu 37 20 3760348 3760348 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:3760348G>C uc002wjj.2 - 2 352 c.184C>G c.(184-186)CTC>GTC p.L62V NM_015417 NP_056232 Q9Y4P9 SPEF1_HUMAN calponin-homology and microtubule-associated 62 cilium axoneme|cytoplasm|cytoskeleton 0 TTCTGCTGGAGAGAGTTGGCG 0.527 10 64 --- --- --- --- PASS CENPB 1059 broad.mit.edu 37 20 3766431 3766431 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:3766431C>A uc002wjk.2 - 1 907 c.700G>T c.(700-702)GAC>TAC p.D234Y CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 234 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 TCGCTGCCGTCGGCATTGGCG 0.726 19 29 --- --- --- --- PASS SLC24A3 57419 broad.mit.edu 37 20 19662590 19662590 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:19662590G>A uc002wrl.2 + 10 1053 c.856G>A c.(856-858)GAT>AAT p.D286N NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 286 Cytoplasmic (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 TGCTGAAATTGATGACAGCAG 0.378 6 58 --- --- --- --- PASS RIN2 54453 broad.mit.edu 37 20 19945645 19945645 + Silent SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:19945645C>G uc002wro.1 + 5 549 c.513C>G c.(511-513)CTC>CTG p.L171L RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Intron NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 171 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 TATTCCGGCTCATTGCTTTCT 0.468 17 196 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21494134 21494134 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:21494134G>T uc002wsi.2 - 1 531 c.174C>A c.(172-174)AGC>AGA p.S58R NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 58 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 TCAGGGGCAGGCTCTGCACCG 0.672 6 39 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21687680 21687680 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:21687680C>A uc002wsj.2 + 2 945 c.891C>A c.(889-891)GGC>GGA p.G297G PAX1_uc010zsl.1_Silent_p.G297G|PAX1_uc010zsm.1_Silent_p.G273G NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 297 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 ACATCCTGGGCATCCGGACGT 0.662 15 48 --- --- --- --- PASS CST4 1472 broad.mit.edu 37 20 23667745 23667745 + Nonsense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:23667745C>A uc002wto.1 - 2 378 c.322G>T c.(322-324)GAA>TAA p.E108* NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 108 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TCTGGCTGTTCATGGAAGGCA 0.567 20 186 --- --- --- --- PASS DEFB123 245936 broad.mit.edu 37 20 30037910 30037910 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:30037910G>C uc002wvy.2 + 2 228 c.137G>C c.(136-138)TGC>TCC p.C46S NM_153324 NP_697019 Q8N688 DB123_HUMAN defensin, beta 123 precursor 46 defense response to bacterium extracellular region 0 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TATGTTTACTGCATAAATAAT 0.433 46 105 --- --- --- --- PASS BPIL3 128859 broad.mit.edu 37 20 31629812 31629812 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:31629812C>A uc010zuc.1 + 12 1179 c.1179C>A c.(1177-1179)GGC>GGA p.G393G BPIL3_uc010zud.1_Silent_p.G332G NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 393 extracellular region lipid binding ovary(1)|pancreas(1) 2 CATCGATTGGCAACTTCAATG 0.587 5 48 --- --- --- --- PASS RALY 22913 broad.mit.edu 37 20 32664611 32664611 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:32664611G>T uc002xab.2 + 7 946 c.648G>T c.(646-648)AAG>AAT p.K216N RALY_uc002xac.2_Missense_Mutation_p.K200N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.K216N NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 216 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 CGGAGCAAAAGGCCAATCCAG 0.572 10 28 --- --- --- --- PASS ITCH 83737 broad.mit.edu 37 20 33068455 33068455 + Missense_Mutation SNP A G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:33068455A>G uc010geu.1 + 20 2185 c.1993A>G c.(1993-1995)AAG>GAG p.K665E ITCH_uc002xak.2_Missense_Mutation_p.K624E|ITCH_uc010zuj.1_Missense_Mutation_p.K514E NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 665 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 ACCATTCTATAAGCGTATCTT 0.338 35 161 --- --- --- --- PASS RBM39 9584 broad.mit.edu 37 20 34300964 34300964 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:34300964G>C uc002xeb.2 - 12 1495 c.1151C>G c.(1150-1152)TCT>TGT p.S384C RBM39_uc002xdz.2_Missense_Mutation_p.S360C|RBM39_uc002xea.2_Missense_Mutation_p.S227C|RBM39_uc010gfn.2_Missense_Mutation_p.S227C|RBM39_uc010zvm.1_Missense_Mutation_p.S362C|RBM39_uc002xeg.2_Missense_Mutation_p.S362C|RBM39_uc002xec.2_Missense_Mutation_p.S384C|RBM39_uc002xed.2_Missense_Mutation_p.S102C|RBM39_uc002xee.2_Missense_Mutation_p.S227C|RBM39_uc002xef.2_Missense_Mutation_p.S227C|RBM39_uc010zvn.1_Missense_Mutation_p.S227C NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 384 Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) AAATGCCAAAGAGCCACTCAT 0.363 7 74 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40045984 40045984 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:40045984G>A uc002xka.1 - 32 6311 c.6133C>T c.(6133-6135)CCA>TCA p.P2045S CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2045 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TACTTCCCTGGATAATCTGGG 0.438 12 114 --- --- --- --- PASS CSE1L 1434 broad.mit.edu 37 20 47701833 47701833 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:47701833G>C uc002xty.2 + 16 1767 c.1633G>C c.(1633-1635)GAA>CAA p.E545Q CSE1L_uc010zyg.1_Missense_Mutation_p.E328Q|CSE1L_uc010ghx.2_Missense_Mutation_p.E489Q|CSE1L_uc010ghy.2_Missense_Mutation_p.E166Q|CSE1L_uc010zyh.1_Missense_Mutation_p.E194Q NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 545 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TACAGCTGCAGAAATCGCACC 0.413 13 86 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47865809 47865809 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:47865809C>G uc002xui.2 - 14 3999 c.3752G>C c.(3751-3753)CGA>CCA p.R1251P NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1251 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATTGTTCTCTCGAAGTGTATG 0.517 23 129 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49209624 49209624 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:49209624C>T uc002xvm.2 - 18 2628 c.2310G>A c.(2308-2310)CAG>CAA p.Q770Q FAM65C_uc010zyt.1_Silent_p.Q774Q|FAM65C_uc010zyu.1_RNA NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 770 ovary(2) 2 CGCTCTGCCTCTGCAGGTAGC 0.587 26 172 --- --- --- --- PASS STMN3 50861 broad.mit.edu 37 20 62275232 62275232 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:62275232G>A uc002yfr.1 - 3 250 c.168C>T c.(166-168)GTC>GTT p.V56V STMN3_uc011abb.1_Silent_p.V56V NM_015894 NP_056978 Q9NZ72 STMN3_HUMAN SCG10-like-protein 56 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding 0 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) ACTTGAGGATGACCTCGAAGC 0.617 26 153 --- --- --- --- PASS PRPF6 24148 broad.mit.edu 37 20 62648166 62648166 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr20:62648166C>T uc002yho.2 + 12 1783 c.1615C>T c.(1615-1617)CGG>TGG p.R539W PRPF6_uc002yhp.2_Missense_Mutation_p.R539W NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 539 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GGAGGAAGATCGGAAGCATAC 0.562 4 82 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15558281 15558281 + Splice_Site SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:15558281C>A uc002yjm.2 - 3 614 c.604_splice c.e3+1 p.G202_splice LIPI_uc010gkw.1_Splice_Site_p.G135_splice NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 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) aataattttaCCTGTTATTCT 0.254 6 125 --- --- --- --- PASS GABPA 2551 broad.mit.edu 37 21 27117588 27117588 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:27117588G>C uc002ylx.3 + 3 672 c.145G>C c.(145-147)GGC>CGC p.G49R GABPA_uc002yly.3_Missense_Mutation_p.G49R NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 49 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 TGAACCAATAGGCAATTTAAA 0.358 7 129 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34058125 34058125 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:34058125G>C uc002yqh.2 - 9 1168 c.1168C>G c.(1168-1170)CTT>GTT p.L390V SYNJ1_uc011ads.1_Missense_Mutation_p.L351V|SYNJ1_uc002yqf.2_Missense_Mutation_p.L351V|SYNJ1_uc002yqg.2_Missense_Mutation_p.L351V|SYNJ1_uc002yqi.2_Missense_Mutation_p.L390V NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 351 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TGAGGTTTAAGAACACTATGT 0.338 33 79 --- --- --- --- PASS GART 2618 broad.mit.edu 37 21 34897293 34897293 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:34897293G>C uc002yrx.2 - 11 1216 c.1081C>G c.(1081-1083)CAA>GAA p.Q361E GART_uc002yrz.2_Missense_Mutation_p.Q361E|GART_uc010gmd.2_Missense_Mutation_p.Q23E|GART_uc002yry.2_Missense_Mutation_p.Q361E|GART_uc002ysa.2_Missense_Mutation_p.Q361E NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 361 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CCTAGAGCTTGAGCCTCAGGA 0.448 13 68 --- --- --- --- PASS KCNJ6 3763 broad.mit.edu 37 21 39087405 39087405 + Nonsense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:39087405G>A uc011aej.1 - 3 108 c.55C>T c.(55-57)CAG>TAG p.Q19* KCNJ6_uc002ywo.2_Nonsense_Mutation_p.Q19* NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 19 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TCGACGTCCTGATCCATGGAG 0.527 14 44 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40568985 40568985 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:40568985C>T uc002yxk.1 - 41 6149 c.6010G>A c.(6010-6012)GAA>AAA p.E2004K BRWD1_uc010goc.1_Missense_Mutation_p.E647K|BRWD1_uc002yxl.2_Missense_Mutation_p.E2004K NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2004 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GTACTACCTTCGGAGTCAGGA 0.418 31 163 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45821777 45821777 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:45821777G>A uc002zet.1 + 17 2748 c.2535G>A c.(2533-2535)CGG>CGA p.R845R TRPM2_uc002zeu.1_Silent_p.R845R|TRPM2_uc002zew.1_Silent_p.R845R|TRPM2_uc010gpt.1_Silent_p.R845R|TRPM2_uc002zex.1_Silent_p.R631R|TRPM2_uc002zey.1_Silent_p.R358R NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 845 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGGAGATGCGGCAGGTACAGC 0.627 85 130 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47685237 47685237 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:47685237C>T uc002zir.1 - 12 3268 c.3232G>A c.(3232-3234)GAG>AAG p.E1078K MCM3AP_uc002ziq.1_Missense_Mutation_p.E5K NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1078 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) GTCCCTACCTCGTCAGAGTAC 0.607 7 39 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:47783764G>A uc002zji.3 + 14 2631 c.2524G>A c.(2524-2526)GAG>AAG p.E842K PCNT_uc002zjj.2_Missense_Mutation_p.E724K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662 25 132 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47959842 47959842 + Silent SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr21:47959842G>C uc002zjo.2 + 17 2157 c.1974G>C c.(1972-1974)CTG>CTC p.L658L DIP2A_uc011afy.1_Silent_p.L594L|DIP2A_uc011afz.1_Silent_p.L654L|DIP2A_uc002zjl.2_Silent_p.L658L|DIP2A_uc002zjm.2_Silent_p.L658L|DIP2A_uc010gql.2_Silent_p.L615L|DIP2A_uc002zjn.2_Silent_p.L658L|DIP2A_uc002zjp.1_Silent_p.L403L|DIP2A_uc002zjq.2_Silent_p.L50L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 658 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) CCAGAGGTCTGAGGCCAGAGG 0.557 14 103 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619180 17619180 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:17619180C>G uc002zmf.2 - 8 1031 c.1003G>C c.(1003-1005)GAT>CAT p.D335H CECR5_uc002zmd.2_Missense_Mutation_p.D146H|CECR5_uc002zme.2_Missense_Mutation_p.D127H|CECR5_uc002zmg.2_Missense_Mutation_p.D135H|CECR5_uc002zmh.2_Missense_Mutation_p.D305H NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 335 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) GGCGCCCCATCATGCGTTGCC 0.587 9 103 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18374399 18374399 + Splice_Site SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:18374399C>G uc002zng.3 - 12 1900 c.1547_splice c.e12-1 p.E516_splice MICAL3_uc011agl.1_Splice_Site_p.E516_splice|MICAL3_uc002znh.2_Splice_Site_p.E516_splice|MICAL3_uc002znj.1_Splice_Site_p.E216_splice|MICAL3_uc002znk.1_Splice_Site_p.E516_splice|MICAL3_uc002znl.1_Splice_Site_p.E149_splice|MICAL3_uc002znm.2_Splice_Site_p.E17_splice|MICAL3_uc010grf.2_Splice_Site_p.E516_splice NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GCTACAGACTCTAAAACAACA 0.458 4 39 --- --- --- --- PASS SERPIND1 3053 broad.mit.edu 37 22 21141193 21141193 + Missense_Mutation SNP G A A rs142451096 TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:21141193G>A uc002ztb.1 + 5 1406 c.1339G>A c.(1339-1341)GAG>AAG p.E447K PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E475K NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 447 E -> K (in HCF2D). blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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) Ardeparin(DB00407) CACAGTGAACGAGGAAGGCAC 0.517 16 115 --- --- --- --- PASS MAPK1 5594 broad.mit.edu 37 22 22160160 22160160 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:22160160G>T uc002zvn.2 - 3 711 c.471C>A c.(469-471)CTC>CTA p.L157L MAPK1_uc002zvo.2_Silent_p.L157L|MAPK1_uc010gtk.1_Silent_p.L157L NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 157 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) AGGTGGTGTTGAGCAGCAGGT 0.393 20 178 --- --- --- --- PASS APOL1 8542 broad.mit.edu 37 22 36661498 36661498 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:36661498G>T uc003apf.2 + 6 784 c.616G>T c.(616-618)GTA>TTA p.V206L APOL1_uc011amn.1_Missense_Mutation_p.V83L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.V222L|APOL1_uc011amo.1_Missense_Mutation_p.V83L|APOL1_uc011amp.1_Missense_Mutation_p.V206L|APOL1_uc011amq.1_Missense_Mutation_p.V188L|APOL1_uc010gwx.2_Missense_Mutation_p.V83L NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 206 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 AGGCAGCCTTGTACTCTTGGA 0.567 51 235 --- --- --- --- PASS POLR3H 171568 broad.mit.edu 37 22 41926792 41926792 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:41926792C>A uc003baf.2 - 6 520 c.460G>T c.(460-462)GAC>TAC p.D154Y POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Missense_Mutation_p.D154Y|POLR3H_uc003bai.2_Missense_Mutation_p.D125Y NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 154 innate immune response|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 skin(1) 1 AAGCTCTCGTCCACCACCCGG 0.617 15 84 --- --- --- --- PASS CYP2D6 1565 broad.mit.edu 37 22 42523977 42523977 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:42523977C>T uc003bce.2 - 6 942 c.852G>A c.(850-852)GGG>GGA p.G284G uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Silent_p.G233G NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 284 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 TCTCAGGGTTCCCCTTGGCCT 0.622 4 83 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46654808 46654808 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:46654808G>A uc003bhh.2 - 1 4412 c.4412C>T c.(4411-4413)TCA>TTA p.S1471L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1471 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACTTGCTTCTGACATTAGAGG 0.443 5 197 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47116103 47116103 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:47116103G>A uc003bia.2 - 3 366 c.259C>T c.(259-261)CAC>TAC p.H87Y NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 87 Required for binding to sulfatide and phosphoinositides. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTTACACAGTGAACTGCACAG 0.517 11 65 --- --- --- --- PASS TBC1D22A 25771 broad.mit.edu 37 22 47308002 47308002 + Missense_Mutation SNP C G G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:47308002C>G uc003bib.2 + 8 1068 c.933C>G c.(931-933)ATC>ATG p.I311M TBC1D22A_uc010haf.2_Missense_Mutation_p.I281M|TBC1D22A_uc003bic.2_Missense_Mutation_p.I252M|TBC1D22A_uc003bie.2_Missense_Mutation_p.I233M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I264M NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 311 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TATGGGCGATCCGCCACCCAG 0.383 18 179 --- --- --- --- PASS HDAC10 83933 broad.mit.edu 37 22 50684751 50684751 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr22:50684751G>C uc003bkg.2 - 17 1999 c.1626C>G c.(1624-1626)TTC>TTG p.F542L TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.F268L|HDAC10_uc003bkf.2_Missense_Mutation_p.F268L|HDAC10_uc010hav.2_Missense_Mutation_p.F522L|HDAC10_uc003bkh.2_Missense_Mutation_p.F335L|HDAC10_uc003bki.2_Missense_Mutation_p.F492L|HDAC10_uc003bkj.2_RNA NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 542 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|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) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGAGACATGGAACATGGATA 0.597 14 158 --- --- --- --- PASS ARSE 415 broad.mit.edu 37 X 2867672 2867672 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:2867672G>A uc004crc.3 - 6 777 c.527C>T c.(526-528)TCC>TTC p.S176F ARSE_uc011mhi.1_Missense_Mutation_p.S122F|ARSE_uc011mhh.1_Missense_Mutation_p.S201F NM_000047 NP_000038 P51690 ARSE_HUMAN arylsulfatase E precursor 176 skeletal system development Golgi stack arylsulfatase activity|metal ion binding ovary(1)|central_nervous_system(1) 2 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) ACCCATCAAGGAGAAAGGCAT 0.517 6 42 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3239840 3239840 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:3239840T>A uc004crg.3 - 5 4043 c.3886A>T c.(3886-3888)ATG>TTG p.M1296L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1296 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGGTTGTCATGTAATCTAAG 0.353 41 168 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3240621 3240621 + Silent SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:3240621T>C uc004crg.3 - 5 3262 c.3105A>G c.(3103-3105)CAA>CAG p.Q1035Q NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1035 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGTCAGTCCTTGTAGATGTG 0.448 45 166 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3241209 3241209 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:3241209T>A uc004crg.3 - 5 2674 c.2517A>T c.(2515-2517)GAA>GAT p.E839D NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 839 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGAGGATTCTTCAGCACTGG 0.488 25 109 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 6069167 6069167 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:6069167A>T uc010ndh.2 - 2 842 c.341T>A c.(340-342)CTG>CAG p.L114Q NLGN4X_uc004crp.2_Missense_Mutation_p.L114Q|NLGN4X_uc004crq.2_Missense_Mutation_p.L114Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.L114Q|NLGN4X_uc004crr.2_Missense_Mutation_p.L114Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.L114Q NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 114 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCTCTCATCCAGGTGCTGGGG 0.527 30 141 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9905624 9905624 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:9905624G>C uc004csu.1 + 7 4128 c.4038G>C c.(4036-4038)TTG>TTC p.L1346F SHROOM2_uc004csv.2_Missense_Mutation_p.L181F|SHROOM2_uc011mic.1_Missense_Mutation_p.L181F|SHROOM2_uc004csw.1_Missense_Mutation_p.L181F NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1346 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CTATGGACTTGATGGAAGGCA 0.557 15 44 --- --- --- --- PASS TCEANC 170082 broad.mit.edu 37 X 13681157 13681157 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:13681157G>A uc004cvk.2 + 2 760 c.530G>A c.(529-531)TGC>TAC p.C177Y TCEANC_uc010nee.1_Missense_Mutation_p.C177Y|TCEANC_uc010nef.1_Missense_Mutation_p.C177Y|TCEANC_uc010neg.1_Missense_Mutation_p.C207Y|TCEANC_uc004cvl.2_RNA NM_152634 NP_689847 Q8N8B7 TEANC_HUMAN TFIIS central domain-containing protein 1 177 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 AGAACTAAATGCATAGAGCTT 0.428 29 138 --- --- --- --- PASS CDKL5 6792 broad.mit.edu 37 X 18622327 18622327 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:18622327G>A uc004cym.2 + 12 1536 c.1283G>A c.(1282-1284)GGC>GAC p.G428D CDKL5_uc004cyn.2_Missense_Mutation_p.G428D NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 428 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CCTTCAGAAGGCCCAGGGACA 0.448 33 161 --- --- --- --- PASS CXorf23 256643 broad.mit.edu 37 X 19947938 19947938 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:19947938G>C uc004czp.2 - 10 1984 c.1984C>G c.(1984-1986)CAT>GAT p.H662D CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Missense_Mutation_p.H641D NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 691 mitochondrion lung(1)|skin(1) 2 CTGAACTTATGAGTGATAAAT 0.353 43 223 --- --- --- --- PASS KLHL15 80311 broad.mit.edu 37 X 24024735 24024735 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:24024735C>T uc004dba.3 - 3 332 c.76G>A c.(76-78)GAG>AAG p.E26K NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 26 ovary(1)|breast(1) 2 AATCCCTCCTCATACAGTGCT 0.468 7 63 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24761436 24761436 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:24761436C>A uc004dbl.2 + 23 2561 c.2538C>A c.(2536-2538)GAC>GAA p.D846E SCARNA23_uc004dbo.1_5'Flank NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 846 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TGGTTTTGGACCCCAAAGTTG 0.383 10 51 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24761437 24761437 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:24761437C>A uc004dbl.2 + 23 2562 c.2539C>A c.(2539-2541)CCC>ACC p.P847T SCARNA23_uc004dbo.1_5'Flank NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 847 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) GGTTTTGGACCCCAAAGTTGG 0.383 10 51 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29938208 29938208 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:29938208C>A uc004dby.2 + 8 1562 c.1054C>A c.(1054-1056)CGA>AGA p.R352R NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 352 Extracellular (Potential). 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 CCTTCATAAACGAGGTGAGTG 0.403 21 70 --- --- --- --- PASS CASK 8573 broad.mit.edu 37 X 41495861 41495861 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:41495861C>T uc004dfl.3 - 9 931 c.885G>A c.(883-885)CTG>CTA p.L295L CASK_uc004dfk.3_Silent_p.L110L|CASK_uc004dfm.3_Silent_p.L295L|CASK_uc004dfn.3_Silent_p.L295L NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 295 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 TGAATTTCCTCAGCTGCTCTA 0.328 19 108 --- --- --- --- PASS ELK1 2002 broad.mit.edu 37 X 47496454 47496454 + Silent SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:47496454C>T uc004dik.3 - 6 1468 c.1146G>A c.(1144-1146)CTG>CTA p.L382L ELK1_uc010nhv.2_Silent_p.L382L|ELK1_uc010nhw.2_Silent_p.L272L|ELK1_uc004dil.3_Intron NM_001114123 NP_001107595 P19419 ELK1_HUMAN ELK1 protein 382 Sufficient for interaction with MAD2L2. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CAATGGGACTCAGGGTGCTCC 0.602 10 31 --- --- --- --- PASS SSX4 6759 broad.mit.edu 37 X 48270302 48270302 + Missense_Mutation SNP G C C rs143022814 byFrequency TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:48270302G>C uc004djh.1 - 3 133 c.75C>G c.(73-75)TTC>TTG p.F25L SSX4_uc004dji.1_Missense_Mutation_p.F25L NM_001034832 NP_001030004 O60224 SSX4_HUMAN synovial sarcoma, X breakpoint 4B isoform a 25 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding SS18/SSX4(12) soft_tissue(12) 12 CAATATCATCGAAGGCCTGGA 0.423 T SS18 synovial sarcoma 20 120 --- --- --- --- PASS SLC38A5 92745 broad.mit.edu 37 X 48317959 48317959 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:48317959G>T uc010nid.2 - 16 1458 c.1280C>A c.(1279-1281)TCT>TAT p.S427Y SLC38A5_uc004djk.3_Missense_Mutation_p.S376Y NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 427 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 CTCCACCTCAGAGGGTACAAT 0.567 4 18 --- --- --- --- PASS GATA1 2623 broad.mit.edu 37 X 48652236 48652236 + Nonsense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:48652236C>T uc004dkq.3 + 6 998 c.907C>T c.(907-909)CAG>TAG p.Q303* NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 303 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GGATGGTATTCAGACTCGAAA 0.572 Mis|F megakaryoblastic leukemia of Downs Syndrome 4 25 --- --- --- --- PASS BMP15 9210 broad.mit.edu 37 X 50658840 50658840 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:50658840C>T uc011mnw.1 + 2 412 c.412C>T c.(412-414)CGC>TGC p.R138C NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 138 R -> H (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein). female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) TGTGGTTTACCGCCATCATCT 0.507 21 65 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54334465 54334465 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:54334465C>T uc004dtd.1 - 5 1418 c.979G>A c.(979-981)GAA>AAA p.E327K WNK3_uc004dtc.1_Missense_Mutation_p.E327K NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 327 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TCTACGGATTCATCATAGTGT 0.403 20 57 --- --- --- --- PASS ZXDA 7789 broad.mit.edu 37 X 57935958 57935958 + Silent SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:57935958G>T uc004dve.2 - 1 1110 c.897C>A c.(895-897)CCC>CCA p.P299P NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 299 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGCATTTGAAGGGCCTCTGGC 0.632 5 21 --- --- --- --- PASS OPHN1 4983 broad.mit.edu 37 X 67316832 67316832 + Silent SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:67316832G>A uc004dww.3 - 19 1860 c.1566C>T c.(1564-1566)TCC>TCT p.S522S OPHN1_uc011mpg.1_Silent_p.S522S NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 522 Rho-GAP. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 CTCCCATGTTGGAGGGGGTCA 0.473 20 70 --- --- --- --- PASS ARR3 407 broad.mit.edu 37 X 69498434 69498434 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:69498434G>T uc004dyb.2 + 12 916 c.848G>T c.(847-849)GGC>GTC p.G283V ARR3_uc004dya.2_Missense_Mutation_p.G283V NM_004312 NP_004303 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 283 signal transduction|visual perception cytoplasm|soluble fraction large_intestine(2)|ovary(2) 4 CAGAAACGGGGCCTGGCACTG 0.498 9 58 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69561721 69561721 + Missense_Mutation SNP A T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:69561721A>T uc004dyg.2 + 11 1333 c.1206A>T c.(1204-1206)TTA>TTT p.L402F KIF4A_uc010nkw.2_Missense_Mutation_p.L402F|KIF4A_uc004dyf.1_Missense_Mutation_p.L402F NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 402 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 ATGAAAAATTAAGTCGTGGTC 0.413 21 125 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70472625 70472625 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:70472625C>T uc004dzh.1 - 2 568 c.481G>A c.(481-483)GAG>AAG p.E161K BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E161K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E161K|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.E161K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E161K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E161K NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 161 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GAGGTGGTCTCCTCCTCTTCA 0.587 15 49 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84525778 84525778 + Missense_Mutation SNP G C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:84525778G>C uc004eeo.2 + 9 1577 c.1230G>C c.(1228-1230)ATG>ATC p.M410I ZNF711_uc004eep.2_Missense_Mutation_p.M410I|ZNF711_uc004eeq.2_Missense_Mutation_p.M456I|ZNF711_uc011mqy.1_Missense_Mutation_p.M9I NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 410 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 ATCATTTAATGAGAAAAAAAT 0.358 9 35 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84526676 84526676 + Missense_Mutation SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:84526676G>A uc004eeo.2 + 9 2475 c.2128G>A c.(2128-2130)GAA>AAA p.E710K ZNF711_uc004eep.2_Missense_Mutation_p.E710K|ZNF711_uc004eeq.2_Missense_Mutation_p.E756K|ZNF711_uc011mqy.1_Missense_Mutation_p.E309K NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 710 C2H2-type 11. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TGAGTATTGTGAATACAGCAC 0.378 25 97 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101908955 101908955 + Silent SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:101908955C>A uc004ejj.3 + 5 915 c.114C>A c.(112-114)CCC>CCA p.P38P GPRASP1_uc004eji.3_Silent_p.P38P|GPRASP1_uc010nod.2_Silent_p.P38P NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 38 cytoplasm protein binding ovary(1)|lung(1) 2 TGGTCAGACCCAAGGTTAGGA 0.537 38 242 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 110951368 110951368 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:110951368C>A uc011msy.1 + 4 531 c.497C>A c.(496-498)TCC>TAC p.S166Y ALG13_uc011msw.1_Missense_Mutation_p.S88Y|ALG13_uc011msx.1_Missense_Mutation_p.S62Y|ALG13_uc011msz.1_Missense_Mutation_p.S88Y|ALG13_uc011mta.1_Missense_Mutation_p.S62Y|ALG13_uc011mtb.1_Missense_Mutation_p.S62Y Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 166 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GGGCTGCTTTCCGGATACCTG 0.537 14 56 --- --- --- --- PASS ZCCHC16 340595 broad.mit.edu 37 X 111698022 111698022 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:111698022T>A uc004epo.1 + 3 507 c.66T>A c.(64-66)AAT>AAA p.N22K NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 22 nucleic acid binding|zinc ion binding ovary(1) 1 AGGCAGAGAATCTGATTCTGC 0.498 26 117 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117749672 117749672 + Missense_Mutation SNP A C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:117749672A>C uc004eqp.2 + 30 3353 c.3290A>C c.(3289-3291)CAA>CCA p.Q1097P DOCK11_uc004eqq.2_Missense_Mutation_p.Q863P NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1097 blood coagulation cytosol GTP binding ovary(3) 3 CAGCGGGTTCAAGGCATGTAT 0.363 9 37 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118222335 118222335 + Missense_Mutation SNP G T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:118222335G>T uc004era.3 - 11 2858 c.2858C>A c.(2857-2859)CCA>CAA p.P953Q NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 953 ovary(4)|skin(1) 5 GTTCACCCATGGCTGGAAAGG 0.483 14 62 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122598715 122598715 + Splice_Site SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:122598715G>A uc004etq.3 + 14 2370 c.2077_splice c.e14-1 p.R693_splice GRIA3_uc004etr.3_Splice_Site_p.R693_splice|GRIA3_uc004ets.3_Splice_Site NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CTTTGGTGCAGAGATCCAAAA 0.373 17 131 --- --- --- --- PASS FAM127B 26071 broad.mit.edu 37 X 134186115 134186115 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:134186115C>T uc004eyf.2 - 1 107 c.24G>A c.(22-24)ATG>ATA p.M8I FAM127B_uc004eyg.3_Missense_Mutation_p.M8I NM_001078172 NP_001071640 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 8 0 Acute lymphoblastic leukemia(192;0.000127) GGAGGGCCTTCATCAGCTGCA 0.706 6 54 --- --- --- --- PASS SLC9A6 10479 broad.mit.edu 37 X 135080640 135080640 + Splice_Site SNP G A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:135080640G>A uc004ezj.2 + 4 584 c.508_splice c.e4-1 p.R170_splice SLC9A6_uc004ezk.2_Splice_Site_p.R202_splice|SLC9A6_uc011mvx.1_Splice_Site_p.R150_splice NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTTTTTGTCAGAGACATTTTT 0.299 7 81 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135312673 135312673 + Missense_Mutation SNP T C C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:135312673T>C uc004ezt.2 - 10 1712 c.1621A>G c.(1621-1623)AAA>GAA p.K541E MAP7D3_uc004ezs.2_Missense_Mutation_p.K505E|MAP7D3_uc011mwc.1_Missense_Mutation_p.K523E|MAP7D3_uc010nsa.1_Missense_Mutation_p.K499E NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 541 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) GGCATTATTTTATAAGGAAAA 0.373 34 173 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148037466 148037466 + Missense_Mutation SNP C A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:148037466C>A uc004fcp.2 + 11 2370 c.1891C>A c.(1891-1893)CCC>ACC p.P631T AFF2_uc004fcq.2_Missense_Mutation_p.P621T|AFF2_uc004fcr.2_Missense_Mutation_p.P592T|AFF2_uc011mxb.1_Missense_Mutation_p.P596T|AFF2_uc004fcs.2_Missense_Mutation_p.P598T|AFF2_uc011mxc.1_Missense_Mutation_p.P272T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 631 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GAAAAAACAGCCCAAAAAAGT 0.433 23 129 --- --- --- --- PASS MAMLD1 10046 broad.mit.edu 37 X 149638334 149638334 + Nonsense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:149638334T>A uc004fee.1 + 3 565 c.489T>A c.(487-489)TAT>TAA p.Y163* MAMLD1_uc011mxt.1_Nonsense_Mutation_p.Y125*|MAMLD1_uc011mxu.1_Nonsense_Mutation_p.Y138*|MAMLD1_uc011mxv.1_Nonsense_Mutation_p.Y138*|MAMLD1_uc011mxw.1_Nonsense_Mutation_p.Y90* NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 163 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTTACTATGAGAAAATCA 0.478 26 85 --- --- --- --- PASS HCFC1 3054 broad.mit.edu 37 X 153220573 153220573 + Missense_Mutation SNP T A A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:153220573T>A uc004fjp.2 - 17 3805 c.3277A>T c.(3277-3279)ACC>TCC p.T1093S NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1093 HCF repeat 2. T->A: Inactivates cleavage at HCF repeat. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) gaggtggcggtggtggcggtg 0.537 10 23 --- --- --- --- PASS LAGE3 8270 broad.mit.edu 37 X 153706634 153706634 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:153706634C>T uc004fln.1 - 2 647 c.305G>A c.(304-306)AGG>AAG p.R102K NM_006014 NP_006005 Q14657 LAGE3_HUMAN L antigen family, member 3 102 protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACCAGGATCCTGCCACTCAC 0.627 11 112 --- --- --- --- PASS LAGE3 8270 broad.mit.edu 37 X 153706719 153706719 + Missense_Mutation SNP C T T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chrX:153706719C>T uc004fln.1 - 2 562 c.220G>A c.(220-222)GAG>AAG p.E74K NM_006014 NP_006005 Q14657 LAGE3_HUMAN L antigen family, member 3 74 protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATTTCCGCCTCCAAGGGGGTC 0.592 7 118 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39222389 39222390 + Frame_Shift_Del DEL TC - - TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:39222389_39222390delTC uc002rrk.3 - 20 3261_3262 c.3220_3221delGA c.(3220-3222)GAAfs p.E1074fs SOS1_uc002rrj.3_Frame_Shift_Del_p.E688fs NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1074 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TGCTGTACTTTCTGTTTCACTT 0.475 Noonan_syndrome 129 77 --- --- --- --- MYO7B 4648 broad.mit.edu 37 2 128366337 128366337 + Frame_Shift_Del DEL A - - TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:128366337delA uc002top.2 + 22 2751 c.2698delA c.(2698-2700)AAGfs p.K900fs NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 900 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCTCCCTGCCAAGAAGCGCAG 0.652 28 18 --- --- --- --- HDLBP 3069 broad.mit.edu 37 2 242176058 242176059 + Frame_Shift_Del DEL TT - - TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr2:242176058_242176059delTT uc002waz.2 - 21 3103_3104 c.2875_2876delAA c.(2875-2877)AAGfs p.K959fs HDLBP_uc002wba.2_Frame_Shift_Del_p.K959fs|HDLBP_uc002wbb.2_Frame_Shift_Del_p.K911fs NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 959 KH 11. 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) AGCCTCACACTTTTCTTTCCGG 0.614 67 57 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - TG TG rs142406301 by1000genomes TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 3eab4096-8e8e-459d-a2bb-6ef03f414315 b4d9f9a2-e65f-443b-866c-50bb8e491be7 g.chr17:73626918_73626919insTG uc010dgl.2 - 12 1742 c.1586_splice c.e12-1 p.D529_splice RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other_identified_genes_with_known_or_suspected_DNA_repair_function 3 6 --- --- --- ---