Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter GABRD 2563 broad.mit.edu 37 1 1961513 1961513 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:1961513C>T uc001aip.2 + 9 1246 c.1151C>T c.(1150-1152)CCG>CTG p.P384L NM_000815 NP_000806 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 384 Cytoplasmic (Probable). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CGCCGCGTCCCGGGGAACCTG 0.687 13 28 --- --- --- --- PASS PLCH2 9651 broad.mit.edu 37 1 2411368 2411368 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:2411368G>A uc001aji.1 + 3 741 c.467G>A c.(466-468)GGC>GAC p.G156D PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 156 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CTCATGGCCGGCATCAGCGAC 0.682 3 46 --- --- --- --- PASS RNF207 388591 broad.mit.edu 37 1 6273210 6273210 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:6273210C>T uc001amg.2 + 16 1793 c.1619C>T c.(1618-1620)TCC>TTC p.S540F RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 540 intracellular zinc ion binding 0 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) TACGTCCGCTCCATTGCCAAG 0.582 14 70 --- --- --- --- PASS TAS1R1 80835 broad.mit.edu 37 1 6634877 6634877 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:6634877G>A uc001ant.2 + 3 685 c.685G>A c.(685-687)GAG>AAG p.E229K TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.E229K NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 229 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GCAGGCACTGGAGAACCAGGC 0.597 17 97 --- --- --- --- PASS SLC2A5 6518 broad.mit.edu 37 1 9097668 9097668 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:9097668G>T uc001apo.2 - 12 1775 c.1483C>A c.(1483-1485)CCA>ACA p.P495T SLC2A5_uc010nzy.1_Missense_Mutation_p.P436T|SLC2A5_uc010nzz.1_Missense_Mutation_p.P380T|SLC2A5_uc010oaa.1_Missense_Mutation_p.P451T|SLC2A5_uc010oab.1_Missense_Mutation_p.P495T NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 495 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTGACAGGTGGAAGCTCTTTC 0.493 19 281 --- --- --- --- PASS SLC2A5 6518 broad.mit.edu 37 1 9118277 9118277 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:9118277C>G uc001apo.2 - 2 358 c.66G>C c.(64-66)CTG>CTC p.L22L SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Silent_p.L22L|SLC2A5_uc010oac.1_Silent_p.L22L|SLC2A5_uc001app.3_Silent_p.L22L NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 22 Helical; Name=1; (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGGCAGCTATCAGGGTTGCCA 0.582 7 56 --- --- --- --- PASS LOC649330 649330 broad.mit.edu 37 1 12907714 12907714 + Silent SNP C T T rs138482466 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:12907714C>T uc009vno.2 - 1 524 c.429G>A c.(427-429)TCG>TCA p.S143S HNRNPCL1_uc010obf.1_Silent_p.S143S NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 143 nucleic acid binding|nucleotide binding 0 GTTGACGTTTCGAGGGCACTA 0.483 48 199 --- --- --- --- PASS PRAMEF10 343071 broad.mit.edu 37 1 12954931 12954931 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:12954931C>G uc001auo.2 - 3 425 c.352G>C c.(352-354)GGA>CGA p.G118R NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 118 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCTGGCTCCAGACCATATG 0.522 33 173 --- --- --- --- PASS PRDM2 7799 broad.mit.edu 37 1 14107885 14107885 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:14107885G>C uc001avi.2 + 8 4451 c.3595G>C c.(3595-3597)GAA>CAA p.E1199Q PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E1199Q|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.E998Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1199 C2H2-type 6. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTGTAAAAAAGAATTTGCTTT 0.428 13 184 --- --- --- --- PASS PLEKHM2 23207 broad.mit.edu 37 1 16060319 16060319 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:16060319G>A uc010obo.1 + 20 3177 c.2950G>A c.(2950-2952)GAA>AAA p.E984K SLC25A34_uc001axb.1_5'Flank NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 984 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGCGATCCAGGAAGCCTCCAA 0.637 16 82 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152793 18152793 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:18152793C>G uc001bat.2 + 3 1096 c.880C>G c.(880-882)CAC>GAC p.H294D NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 294 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCTGGTCTCCCACGTGATGGC 0.652 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 96 --- --- --- --- PASS ALDH4A1 8659 broad.mit.edu 37 1 19204081 19204081 + Silent SNP G A A rs150927009 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:19204081G>A uc001bbb.2 - 10 1242 c.966C>T c.(964-966)TTC>TTT p.F322F ALDH4A1_uc010ocu.1_Silent_p.F262F|ALDH4A1_uc001bbc.2_Silent_p.F322F NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 322 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) AGCGGTGCACGAAGTGGAAGT 0.657 3 21 --- --- --- --- PASS HTR6 3362 broad.mit.edu 37 1 19992591 19992591 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:19992591C>G uc001bcl.2 + 1 812 c.345C>G c.(343-345)CTC>CTG p.L115L NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 115 Helical; Name=3; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CCTCCATCCTCAACCTCTGCC 0.682 15 62 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21042067 21042067 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:21042067G>A uc001bdr.3 - 2 415 c.297C>T c.(295-297)TTC>TTT p.F99F KIF17_uc001bds.3_Silent_p.F99F NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 99 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCTGCATGGTGAAGGACTTCC 0.652 23 54 --- --- --- --- PASS EIF4G3 8672 broad.mit.edu 37 1 21268017 21268017 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:21268017G>C uc001bec.2 - 9 1718 c.1462C>G c.(1462-1464)CAA>GAA p.Q488E EIF4G3_uc010odi.1_Missense_Mutation_p.Q92E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q487E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q488E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q487E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q494E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q487E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q488E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q499E NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 488 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TTTAAGTTTTGAGAATCCAAA 0.408 54 349 --- --- --- --- PASS RAP1GAP 5909 broad.mit.edu 37 1 21935429 21935429 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:21935429C>A uc001bex.2 - 16 1330 c.1072G>T c.(1072-1074)GGG>TGG p.G358W RAP1GAP_uc001bev.2_Missense_Mutation_p.G358W|RAP1GAP_uc001bew.2_Missense_Mutation_p.G422W|RAP1GAP_uc001bey.2_Missense_Mutation_p.G358W NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 358 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AACTCAGGCCCCTGGAAACTC 0.517 62 224 --- --- --- --- PASS SFN 2810 broad.mit.edu 37 1 27189850 27189850 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:27189850G>C uc001bnc.1 + 1 218 c.147G>C c.(145-147)AAG>AAC p.K49N uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 49 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) TAGCCTATAAGAACGTGGTGG 0.612 5 81 --- --- --- --- PASS PHACTR4 65979 broad.mit.edu 37 1 28818243 28818243 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:28818243C>G uc001bpw.2 + 12 2242 c.1960C>G c.(1960-1962)CAA>GAA p.Q654E PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.Q638E|PHACTR4_uc001bpy.2_Missense_Mutation_p.Q664E|PHACTR4_uc001bpz.2_RNA NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 654 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) AACAGATGCTCAAGATTATGA 0.423 27 75 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 33987111 33987111 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:33987111C>T uc001bxn.1 - 67 10146 c.10117G>A c.(10117-10119)GGC>AGC p.G3373S CSMD2_uc001bxm.1_Missense_Mutation_p.G3517S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3373 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTGACAGAGCCTTGGTAGATG 0.587 19 69 --- --- --- --- PASS ZMYM4 9202 broad.mit.edu 37 1 35836084 35836084 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:35836084A>G uc001byt.2 + 7 1117 c.1037A>G c.(1036-1038)AAA>AGA p.K346R ZMYM4_uc009vuu.2_Missense_Mutation_p.K314R|ZMYM4_uc001byu.2_Missense_Mutation_p.K22R|ZMYM4_uc009vuv.2_Missense_Mutation_p.K85R|uc001byv.2_5'Flank NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 346 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTTGTAAAAAAATCCTCCAG 0.493 34 89 --- --- --- --- PASS THRAP3 9967 broad.mit.edu 37 1 36754981 36754981 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:36754981C>T uc001cae.3 + 5 1585 c.1361C>T c.(1360-1362)TCT>TTT p.S454F THRAP3_uc001caf.3_Missense_Mutation_p.S454F|THRAP3_uc001cag.1_Missense_Mutation_p.S454F NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 454 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAATTTATGTCTAAAGTCATA 0.438 T USP6 aneurysmal bone cysts 16 75 --- --- --- --- PASS GJA9 81025 broad.mit.edu 37 1 39341602 39341602 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:39341602C>G uc001cct.1 - 2 450 c.169G>C c.(169-171)GAA>CAA p.E57Q RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 57 Extracellular (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CCTGGTTGTTCTGTATTGCAG 0.468 9 401 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42047743 42047743 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:42047743C>T uc001cgz.3 - 4 3939 c.2726G>A c.(2725-2727)CGC>CAC p.R909H HIVEP3_uc001cha.3_Missense_Mutation_p.R909H|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 909 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Nuclear localization signal (Potential). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCTGCCAGGCGCAACCTCTT 0.582 42 159 --- --- --- --- PASS RIMKLA 284716 broad.mit.edu 37 1 42880512 42880512 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:42880512C>G uc001chi.2 + 5 1181 c.1043C>G c.(1042-1044)TCT>TGT p.S348C NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 348 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GGGTCTACCTCTAGTGAAAGT 0.562 38 99 --- --- --- --- PASS SLC2A1 6513 broad.mit.edu 37 1 43395312 43395312 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:43395312G>C uc001cik.2 - 6 1344 c.819C>G c.(817-819)CTC>CTG p.L273L NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 273 Helical; Name=7; (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CCACAGCGATGAGGATGGGCT 0.627 15 63 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43909283 43909283 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:43909283G>A uc001cjk.1 + 47 6406 c.5944G>A c.(5944-5946)GAG>AAG p.E1982K KIAA0467_uc001cjl.1_5'Flank NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2881 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCATCGCCCTGAGTCAGGGTC 0.617 28 95 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44084309 44084309 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:44084309T>G uc001cjr.2 + 26 4720 c.4380T>G c.(4378-4380)TGT>TGG p.C1460W PTPRF_uc001cjs.2_Missense_Mutation_p.C1451W|PTPRF_uc001cju.2_Missense_Mutation_p.C849W|PTPRF_uc009vwt.2_Missense_Mutation_p.C1020W|PTPRF_uc001cjv.2_Missense_Mutation_p.C931W|PTPRF_uc001cjw.2_Missense_Mutation_p.C686W NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1460 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGTAAAATGTGATCAGTACT 0.602 40 155 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44437296 44437296 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:44437296G>T uc001ckz.2 + 4 917 c.722G>T c.(721-723)TGG>TTG p.W241L DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.W106L|DPH2_uc001clb.2_Missense_Mutation_p.W165L NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 241 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTCTTGGGGTGGGCACCAGGT 0.602 22 109 --- --- --- --- PASS CCDC24 149473 broad.mit.edu 37 1 44457911 44457911 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:44457911G>C uc001clj.2 + 3 325 c.154G>C c.(154-156)GAG>CAG p.E52Q SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.E8Q|CCDC24_uc009vxc.2_Intron NM_152499 NP_689712 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 52 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ACTGCTCCAAGAGGCTCGATC 0.637 29 108 --- --- --- --- PASS TMEM53 79639 broad.mit.edu 37 1 45120367 45120367 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:45120367T>A uc001cmc.2 - 3 734 c.698A>T c.(697-699)GAG>GTG p.E233V TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.E160V|TMEM53_uc009vxh.1_Missense_Mutation_p.E116V|TMEM53_uc010ola.1_Missense_Mutation_p.E116V NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 233 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) CAGGCGTGCCTCCACCATGCG 0.602 35 142 --- --- --- --- PASS PLK3 1263 broad.mit.edu 37 1 45268466 45268466 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:45268466G>A uc001cmn.2 + 6 788 c.688G>A c.(688-690)GAA>AAA p.E230K PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 230 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) TGTGGCTCCAGAAGTGCTGCT 0.622 23 124 --- --- --- --- PASS KIAA0494 9813 broad.mit.edu 37 1 47173646 47173646 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:47173646C>G uc001cqk.3 - 3 1389 c.412G>C c.(412-414)GAG>CAG p.E138Q KIAA0494_uc010omh.1_Missense_Mutation_p.E138Q|KIAA0494_uc010omj.1_5'UTR|KIAA0494_uc001cql.1_Missense_Mutation_p.E138Q NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 138 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCAATCTTCTCAAGTTGTTTT 0.338 11 170 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48694589 48694589 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:48694589C>A uc001cro.2 + 3 354 c.302C>A c.(301-303)GCT>GAT p.A101D SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A101D|SLC5A9_uc010omt.1_Missense_Mutation_p.A94D|SLC5A9_uc001crp.2_Translation_Start_Site|SLC5A9_uc010omu.1_Translation_Start_Site NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 101 Extracellular (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 GGGACAGGGGCTGCCGGAGGC 0.577 18 95 --- --- --- --- PASS ORC1L 4998 broad.mit.edu 37 1 52854178 52854178 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:52854178G>A uc001ctt.2 - 8 1538 c.1319C>T c.(1318-1320)TCC>TTC p.S440F ORC1L_uc010oni.1_Missense_Mutation_p.S440F|ORC1L_uc001ctu.2_Missense_Mutation_p.S440F|ORC1L_uc009vzd.2_Missense_Mutation_p.S194F NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 440 cell cycle checkpoint|DNA-dependent DNA replication initiation|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 cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 CAGGTTCCTGGACACAGTTCT 0.493 81 222 --- --- --- --- PASS SCP2 6342 broad.mit.edu 37 1 53446098 53446098 + Nonsense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:53446098A>T uc001cur.1 + 10 977 c.856A>T c.(856-858)AGA>TGA p.R286* SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Nonsense_Mutation_p.R205*|SCP2_uc010onp.1_Nonsense_Mutation_p.R262*|SCP2_uc009vzi.1_Nonsense_Mutation_p.R242*|SCP2_uc001cuq.1_Nonsense_Mutation_p.R242* NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 286 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 AGAAGCTGCAAGAAAATGCTA 0.353 35 178 --- --- --- --- PASS MRPL37 51253 broad.mit.edu 37 1 54681865 54681865 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:54681865G>T uc001cxa.3 + 6 1119 c.1042G>T c.(1042-1044)GAT>TAT p.D348Y MRPL37_uc009vzp.2_Missense_Mutation_p.D217Y|MRPL37_uc001cxb.1_Missense_Mutation_p.D348Y|MRPL37_uc001cxc.3_Missense_Mutation_p.D36Y|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 348 translation mitochondrial ribosome structural constituent of ribosome 0 CGTGGGCACGGATGGACGTGT 0.517 37 195 --- --- --- --- PASS C1orf175 374977 broad.mit.edu 37 1 55134563 55134563 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:55134563C>T uc010ooe.1 + 5 1666 c.1342C>T c.(1342-1344)CTG>TTG p.L448L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L16L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L448L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 448 integral to membrane binding 0 GAGCCAGGATCTGCTGGAGGC 0.557 10 135 --- --- --- --- PASS PARS2 25973 broad.mit.edu 37 1 55224180 55224180 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:55224180C>A uc001cxy.2 - 2 738 c.655G>T c.(655-657)GCC>TCC p.A219S NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase (mitochondrial)(putative) 219 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity ovary(2) 2 L-Proline(DB00172) GTCTGCTGGGCAGCCTCTGGG 0.567 12 71 --- --- --- --- PASS HOOK1 51361 broad.mit.edu 37 1 60330868 60330868 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:60330868G>C uc009wad.2 + 19 1797 c.1695G>C c.(1693-1695)CAG>CAC p.Q565H HOOK1_uc001czo.2_Missense_Mutation_p.Q565H|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Missense_Mutation_p.Q523H NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 565 Potential. 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) AAGAATTACAGAAGAAACAAG 0.289 25 91 --- --- --- --- PASS CACHD1 57685 broad.mit.edu 37 1 65147010 65147010 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:65147010G>C uc001dbo.1 + 25 3428 c.3323G>C c.(3322-3324)AGA>ACA p.R1108T CACHD1_uc001dbp.1_Missense_Mutation_p.R863T|CACHD1_uc001dbq.1_Missense_Mutation_p.R863T|CACHD1_uc010opa.1_Missense_Mutation_p.R352T NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1159 Cytoplasmic (Potential). calcium ion transport integral to membrane ovary(2) 2 CACGAAGACAGAGGCATCAGT 0.423 19 88 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65852522 65852522 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:65852522C>G uc001dcd.1 + 8 1016 c.852C>G c.(850-852)ATC>ATG p.I284M DNAJC6_uc001dcc.1_Missense_Mutation_p.I315M|DNAJC6_uc010opc.1_Missense_Mutation_p.I271M|DNAJC6_uc001dce.1_Missense_Mutation_p.I341M NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 284 C2 tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 ATGGAAAAATCTTCATTCCCT 0.418 6 165 --- --- --- --- PASS C1orf141 400757 broad.mit.edu 37 1 67591441 67591441 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:67591441G>C uc001ddl.1 - 3 338 c.227C>G c.(226-228)TCA>TGA p.S76* C1orf141_uc001ddm.1_Nonsense_Mutation_p.S76*|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 76 ovary(1) 1 TTACATTTTTGATTTTGTAAT 0.239 46 246 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70573482 70573482 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:70573482A>G uc001dep.2 + 24 4509 c.4479A>G c.(4477-4479)CTA>CTG p.L1493L LRRC7_uc009wbg.2_Silent_p.L777L|LRRC7_uc001deq.2_Silent_p.L687L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1493 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CATCAAACCTACTGCAGCCTG 0.408 27 200 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037256 75037256 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:75037256C>T uc001dgg.2 - 14 4357 c.4138G>A c.(4138-4140)GAT>AAT p.D1380N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1380 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCAGCAACATCTGAAAAGGAG 0.517 43 217 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78098555 78098555 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:78098555C>T uc001dhq.2 - 5 961 c.485G>A c.(484-486)CGA>CAA p.R162Q ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R162Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R162Q NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TCGACAAGCTCGTTTAGTCCC 0.393 73 365 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79386062 79386062 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:79386062C>G uc001diq.3 - 10 1423 c.1267G>C c.(1267-1269)GAT>CAT p.D423H NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 423 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATATTATAATCTTTAATACCC 0.294 21 72 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85499857 85499857 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:85499857G>C uc001dkp.2 - 4 567 c.474C>G c.(472-474)ATC>ATG p.I158M MCOLN3_uc001dkq.2_Missense_Mutation_p.I102M|MCOLN3_uc001dkr.2_Missense_Mutation_p.I158M|MCOLN3_uc001dks.3_Missense_Mutation_p.I3M NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 158 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) AGTGCTGACAGATTGCCATAG 0.403 34 135 --- --- --- --- PASS SYDE2 84144 broad.mit.edu 37 1 85634814 85634814 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:85634814C>T uc009wcm.2 - 5 2815 c.2766G>A c.(2764-2766)TTG>TTA p.L922L NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 922 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) ATGACATTTTCAAAGGACTTT 0.398 41 201 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86591095 86591095 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:86591095C>G uc001dlj.2 - 3 966 c.924G>C c.(922-924)CAG>CAC p.Q308H COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q308H NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 308 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATCTTGATATCTGGTGTTCTT 0.378 38 171 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86591140 86591140 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:86591140G>A uc001dlj.2 - 3 921 c.879C>T c.(877-879)ATC>ATT p.I293I COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.I293I NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 293 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CATTTTTTATGATATTTGGAA 0.388 35 186 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86591631 86591631 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:86591631T>C uc001dlj.2 - 3 430 c.388A>G c.(388-390)AGA>GGA p.R130G COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R130G NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 130 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) AATTGCAGTCTATTTTTATTT 0.368 23 100 --- --- --- --- PASS ABCD3 5825 broad.mit.edu 37 1 94930375 94930375 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:94930375C>T uc001dqn.3 + 3 294 c.192C>T c.(190-192)TTC>TTT p.F64F ABCD3_uc001dqm.3_Silent_p.F64F|ABCD3_uc010oto.1_Silent_p.F88F|ABCD3_uc010otp.1_5'UTR|ABCD3_uc009wdr.2_Silent_p.F64F NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 64 Targeting to peroxisomes.|Interaction with PEX19. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AGGTGTTTTTCTCAAGGCTCA 0.308 29 154 --- --- --- --- PASS PTBP2 58155 broad.mit.edu 37 1 97270493 97270493 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:97270493G>C uc001drq.2 + 9 1288 c.1042G>C c.(1042-1044)GAG>CAG p.E348Q PTBP2_uc001drn.2_Missense_Mutation_p.E353Q|PTBP2_uc001dro.2_Missense_Mutation_p.E348Q|PTBP2_uc010otz.1_Missense_Mutation_p.E364Q|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.E296Q|PTBP2_uc001drr.2_Missense_Mutation_p.E353Q|PTBP2_uc010oua.1_Missense_Mutation_p.E356Q|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 348 RRM 3. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TTTAAATGAAGAGGTTAGTAA 0.294 18 64 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100379264 100379264 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:100379264C>T uc001dsi.1 + 30 4531 c.4131C>T c.(4129-4131)CTC>CTT p.L1377L AGL_uc001dsj.1_Silent_p.L1377L|AGL_uc001dsk.1_Silent_p.L1377L|AGL_uc001dsl.1_Silent_p.L1377L|AGL_uc001dsm.1_Silent_p.L1361L|AGL_uc001dsn.1_Silent_p.L1360L NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1377 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) ACTATCAGCTCAGGCCTAATT 0.373 57 224 --- --- --- --- PASS DPH5 51611 broad.mit.edu 37 1 101487267 101487267 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:101487267C>G uc001dts.2 - 3 337 c.190G>C c.(190-192)GAA>CAA p.E64Q DPH5_uc001dtr.2_Missense_Mutation_p.E64Q|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.E64Q|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.E64Q|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA NM_015958 NP_057042 Q9H2P9 DPH5_HUMAN diphthine synthase isoform a 64 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity 0 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) TTATCTGCTTCTTGTTCCACT 0.363 27 113 --- --- --- --- PASS S1PR1 1901 broad.mit.edu 37 1 101704702 101704702 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:101704702C>T uc001dud.2 + 2 676 c.162C>T c.(160-162)CTC>CTT p.L54L S1PR1_uc009weg.2_Silent_p.L54L NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 54 Helical; Name=1; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 TGTTCATTCTCATCTGCTGCT 0.438 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 147 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102290775 102290775 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:102290775G>T uc001duf.2 - 4 530 c.459C>A c.(457-459)CTC>CTA p.L153L OLFM3_uc001dug.2_Silent_p.L133L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.L58L|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 153 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TCAAAGGCAGGAGCTCGTCCA 0.418 11 58 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103427758 103427758 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:103427758C>T uc001dul.2 - 40 3406 c.3088G>A c.(3088-3090)GGG>AGG p.G1030R COL11A1_uc001duk.2_Missense_Mutation_p.G226R|COL11A1_uc001dum.2_Missense_Mutation_p.G1042R|COL11A1_uc001dun.2_Missense_Mutation_p.G991R|COL11A1_uc009weh.2_Missense_Mutation_p.G914R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1030 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) CCTCTTTCCCCTGGGAAACCA 0.378 27 119 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103477982 103477982 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:103477982C>G uc001dul.2 - 14 1934 c.1616G>C c.(1615-1617)AGA>ACA p.R539T COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R551T|COL11A1_uc001dun.2_Missense_Mutation_p.R500T|COL11A1_uc009weh.2_Missense_Mutation_p.R423T NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 539 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) AGGACCTGGTCTTCCAGTTAG 0.398 3 91 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103483430 103483430 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:103483430C>A uc001dul.2 - 11 1677 c.1359G>T c.(1357-1359)ATG>ATT p.M453I COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.M465I|COL11A1_uc001dun.2_Missense_Mutation_p.M414I|COL11A1_uc009weh.2_Missense_Mutation_p.M337I NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 453 Triple-helical region (interrupted). 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) CTGGAGGACCCATAATACCCT 0.413 46 221 --- --- --- --- PASS GPR61 83873 broad.mit.edu 37 1 110085670 110085670 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:110085670C>T uc001dxy.2 + 2 709 c.26C>T c.(25-27)TCA>TTA p.S9L NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 9 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) ATCCCCCAGTCATCAGGGAAC 0.632 11 41 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111861204 111861204 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:111861204G>C uc001eas.2 + 9 922 c.819G>C c.(817-819)CTG>CTC p.L273L CHIA_uc001ear.2_Silent_p.L165L|CHIA_uc001eaq.2_Silent_p.L165L|CHIA_uc009wgc.2_Silent_p.L165L|CHIA_uc001eat.2_Silent_p.L112L|CHIA_uc001eav.2_Silent_p.L112L|CHIA_uc001eau.2_Silent_p.L112L|CHIA_uc009wgd.2_Silent_p.L112L NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 273 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) ACTTCATCCTGAGCAACCCCT 0.527 45 210 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114308953 114308953 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:114308953G>C uc001edq.2 - 7 2094 c.2058C>G c.(2056-2058)TTC>TTG p.F686L RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 686 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAACTGTTTTGAACTGATGAA 0.423 48 213 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118609430 118609430 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:118609430C>T uc001ehk.2 - 18 2546 c.2478G>A c.(2476-2478)ATG>ATA p.M826I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 826 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTGTCTATTCATTGGATTGT 0.333 28 134 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144915496 144915496 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:144915496C>G uc001elw.3 - 14 2220 c.1929G>C c.(1927-1929)ATG>ATC p.M643I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M709I|PDE4DIP_uc001emc.1_Missense_Mutation_p.M643I|PDE4DIP_uc001emd.1_Missense_Mutation_p.M643I|PDE4DIP_uc001emb.1_Missense_Mutation_p.M806I|PDE4DIP_uc001eme.1_Missense_Mutation_p.M172I|PDE4DIP_uc001emf.1_Missense_Mutation_p.M428I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 643 Potential. M -> V (in Ref. 4; CAD91152). cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTTGAATCTCCATTTCATGTT 0.468 T PDGFRB MPD 56 624 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145104002 145104002 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:145104002G>A uc001eml.1 + 4 310 c.170G>A c.(169-171)GGA>GAA p.G57E 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 57 Longin.|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 TTGGAAGCAGGAGCCATGACT 0.368 7 39 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145536083 145536083 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:145536083G>C uc001eoa.2 + 17 2251 c.2175G>C c.(2173-2175)CGG>CGC p.R725R NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.R594R|ITGA10_uc009wiw.2_Silent_p.R582R|ITGA10_uc010oyw.1_Silent_p.R670R NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 725 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGTCCCCTCGGAGGCTCCGGC 0.557 43 165 --- --- --- --- PASS RNF115 27246 broad.mit.edu 37 1 145650499 145650499 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:145650499G>A uc001eoj.2 + 3 382 c.178G>A c.(178-180)GGC>AGC p.G60S NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.G27S|RNF115_uc009wiy.2_5'UTR NM_014455 NP_055270 Q9Y4L5 RN115_HUMAN Rabring 7 60 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 AGGTGGTGGCGGCAGTCGGAT 0.403 20 99 --- --- --- --- PASS LOC200030 200030 broad.mit.edu 37 1 148344675 148344675 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:148344675C>T uc001eqf.2 - 2 278 c.243G>A c.(241-243)AAG>AAA p.K81K LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Silent_p.K81K|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Silent_p.K81K|uc010paw.1_Intron NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 81 Potential. cytoplasm 0 GCTCTGCAAGCTTCTCCTCCT 0.527 8 458 --- --- --- --- PASS LOC200030 200030 broad.mit.edu 37 1 148346684 148346684 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:148346684G>A uc001eqf.2 - 1 108 c.73C>T c.(73-75)CGC>TGC p.R25C LOC200030_uc001eqe.2_5'UTR|LOC200030_uc001eqg.2_5'UTR|NBPF14_uc009wkf.1_RNA|uc001erd.3_Missense_Mutation_p.R25C|uc001erc.3_RNA|uc010paj.1_5'UTR|uc010pav.1_Missense_Mutation_p.R25C|uc010paw.1_5'UTR NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 25 cytoplasm 0 AACTGGGGGCGCAATTTCTCG 0.507 6 450 --- --- --- --- PASS HIST2H2AC 8338 broad.mit.edu 37 1 149858795 149858795 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:149858795G>C uc001etd.2 + 1 271 c.271G>C c.(271-273)GAC>CAC p.D91H HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 91 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATCCGCAACGACGAGGAACT 0.597 18 112 --- --- --- --- PASS ADAMTSL4 54507 broad.mit.edu 37 1 150529462 150529462 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:150529462C>T uc001eux.2 + 11 2033 c.1797C>T c.(1795-1797)ATC>ATT p.I599I ADAMTSL4_uc001euw.2_Silent_p.I599I|ADAMTSL4_uc009wlw.2_Silent_p.I622I|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 599 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGTATGTCATCTCTTCACCTC 0.537 26 644 --- --- --- --- PASS CTSS 1520 broad.mit.edu 37 1 150727603 150727603 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:150727603C>G uc001evn.2 - 4 406 c.273G>C c.(271-273)TTG>TTC p.L91F CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.L91F NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 91 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GGGAACTCATCAAAGACATCA 0.294 15 335 --- --- --- --- PASS CGN 57530 broad.mit.edu 37 1 151501993 151501993 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:151501993G>C uc009wmw.2 + 11 2208 c.2064G>C c.(2062-2064)AAG>AAC p.K688N NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 682 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGCTACAAAAGACCCTCCAGC 0.622 5 39 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285429 152285429 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:152285429G>C uc001ezu.1 - 3 1969 c.1933C>G c.(1933-1935)CAT>GAT p.H645D uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 645 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCATGATGGTTTCTGGAA 0.557 Ichthyosis 270 480 --- --- --- --- PASS CRNN 49860 broad.mit.edu 37 1 152383036 152383036 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:152383036C>G uc001ezx.2 - 3 596 c.522G>C c.(520-522)CAG>CAC p.Q174H NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 174 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCCTGGCTCTGGGACTCAG 0.577 128 522 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153652175 153652175 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:153652175C>T uc001fcs.3 + 1 1012 c.591C>T c.(589-591)TTC>TTT p.F197F NPR1_uc010pdz.1_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 197 Extracellular (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AGCACTGCTTCTTCCTCGTGG 0.662 11 21 --- --- --- --- PASS INTS3 65123 broad.mit.edu 37 1 153736693 153736693 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:153736693G>A uc009wom.2 + 19 2142 c.1921G>A c.(1921-1923)GAG>AAG p.E641K INTS3_uc001fct.2_Missense_Mutation_p.E641K|INTS3_uc001fcu.2_Missense_Mutation_p.E333K|INTS3_uc001fcv.2_Missense_Mutation_p.E435K|INTS3_uc010peb.1_Missense_Mutation_p.E435K|INTS3_uc001fcw.2_Missense_Mutation_p.E154K|INTS3_uc010pec.1_Missense_Mutation_p.E154K|INTS3_uc001fcy.2_5'Flank|INTS3_uc001fcx.2_5'Flank NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 642 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGAGATTACTGAGGAGTAAGG 0.537 50 86 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154227363 154227363 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:154227363G>C uc001fep.3 + 16 2073 c.1906G>C c.(1906-1908)GAA>CAA p.E636Q UBAP2L_uc009wot.2_Missense_Mutation_p.E636Q|UBAP2L_uc010pek.1_Missense_Mutation_p.E628Q|UBAP2L_uc010pel.1_Missense_Mutation_p.E646Q|UBAP2L_uc010pen.1_Missense_Mutation_p.E550Q|UBAP2L_uc001feq.2_5'Flank|UBAP2L_uc001fer.2_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 636 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAATCTGTTGAAGGTGAGTG 0.408 18 169 --- --- --- --- PASS RUSC1 23623 broad.mit.edu 37 1 155292628 155292628 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:155292628C>A uc001fkj.2 + 2 1293 c.1064C>A c.(1063-1065)TCG>TAG p.S355* RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.S355*|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 355 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CTCCCCCCCTCGGGGTCGCCG 0.701 14 39 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155449335 155449335 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:155449335G>T uc009wqq.2 - 3 3806 c.3326C>A c.(3325-3327)TCT>TAT p.S1109Y ASH1L_uc001fkt.2_Missense_Mutation_p.S1109Y|ASH1L_uc009wqr.1_Missense_Mutation_p.S1109Y NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1109 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGAAGACTGAGAGCAAATAGG 0.473 23 159 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156626090 156626090 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:156626090C>T uc001fpp.2 + 9 2295 c.1959C>T c.(1957-1959)AGC>AGT p.S653S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 653 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTGTCCCCAGCCCCTGCCACA 0.642 23 179 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156641855 156641855 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:156641855C>G uc001fpq.2 - 4 2258 c.2125G>C c.(2125-2127)GAG>CAG p.E709Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 709 Tail. 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) CTAAAGGCCTCTTTGTTCTCA 0.468 10 271 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156642404 156642404 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:156642404C>G uc001fpq.2 - 4 1709 c.1576G>C c.(1576-1578)GAA>CAA p.E526Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 526 Tail. 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) AGATCCTCTTCTTCCCATATT 0.488 15 384 --- --- --- --- PASS ISG20L2 81875 broad.mit.edu 37 1 156694046 156694046 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:156694046C>T uc001fps.1 - 2 1103 c.842G>A c.(841-843)CGT>CAT p.R281H ISG20L2_uc001fpt.1_Missense_Mutation_p.R281H NM_030980 NP_112242 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 281 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAGGTGTCACGGGTGAGGGA 0.542 9 205 --- --- --- --- PASS SH2D2A 9047 broad.mit.edu 37 1 156779563 156779563 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:156779563C>G uc001fqd.2 - 6 744 c.604G>C c.(604-606)GAA>CAA p.E202Q SH2D2A_uc001fqc.1_Missense_Mutation_p.E174Q|SH2D2A_uc009wsh.2_Missense_Mutation_p.E212Q|SH2D2A_uc001fqe.2_Missense_Mutation_p.E184Q|SH2D2A_uc010phs.1_Missense_Mutation_p.E202Q NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 202 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAGTTTGATTCTTCGGTCCTC 0.587 120 312 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157648534 157648534 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:157648534T>A uc001frb.2 - 15 2463 c.2171A>T c.(2170-2172)AAT>ATT p.N724I FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.N724I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.N450I|FCRL3_uc001frc.1_Missense_Mutation_p.N724I NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 724 ITIM motif 4.|Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) ACGTGGTACATTCTCATAGTT 0.502 30 240 --- --- --- --- PASS KIRREL 55243 broad.mit.edu 37 1 158064513 158064513 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:158064513G>A uc001frn.3 + 15 2281 c.1877G>A c.(1876-1878)CGT>CAT p.R626H KIRREL_uc010pib.1_Missense_Mutation_p.R526H|KIRREL_uc009wsq.2_Missense_Mutation_p.R462H|KIRREL_uc001fro.3_Missense_Mutation_p.R440H|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 626 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) GCTGACTACCGTGCCCCTGGC 0.647 8 108 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158549092 158549092 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:158549092C>G uc010pin.1 - 1 598 c.598G>C c.(598-600)GTT>CTT p.V200L NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGCCTAATAACTGCCAGCATA 0.443 9 162 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158655095 158655095 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:158655095C>G uc001fst.1 - 2 266 c.67G>C c.(67-69)GAG>CAG p.E23Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 23 Spectrin 1. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCCTGGATCTCTTCTGCTGTT 0.383 44 243 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669950 158669950 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:158669950G>T uc001fsu.1 - 1 493 c.493C>A c.(493-495)CTG>ATG p.L165M NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAAAATGGCAGTGTAGAGATC 0.488 76 143 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158735813 158735813 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:158735813C>A uc010piq.1 - 1 660 c.660G>T c.(658-660)CAG>CAT p.Q220H NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGCAGATGATCTGCACATAGG 0.488 14 318 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160064893 160064893 + Missense_Mutation SNP C T T rs144014563 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:160064893C>T uc001fva.2 - 2 253 c.208G>A c.(208-210)GAG>AAG p.E70K IGSF8_uc001fuz.2_Missense_Mutation_p.E70K|IGSF8_uc009wtf.2_Missense_Mutation_p.E70K NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 70 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCTGGGGCCTCGGGCCTATAC 0.587 14 124 --- --- --- --- PASS COPA 1314 broad.mit.edu 37 1 160262323 160262323 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:160262323G>C uc009wti.2 - 28 3305 c.2911C>G c.(2911-2913)CAG>GAG p.Q971E COPA_uc001fvv.3_Missense_Mutation_p.Q980E NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 971 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCAGAGCCTGATAGGTTGTG 0.507 31 245 --- --- --- --- PASS COPA 1314 broad.mit.edu 37 1 160281683 160281683 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:160281683C>A uc009wti.2 - 11 1445 c.1051G>T c.(1051-1053)GAT>TAT p.D351Y COPA_uc001fvv.3_Missense_Mutation_p.D351Y|COPA_uc009wtj.1_Missense_Mutation_p.D297Y NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 351 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAGCTACATCTTTGGAGCTG 0.473 7 89 --- --- --- --- PASS SLAMF6 114836 broad.mit.edu 37 1 160460006 160460006 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:160460006G>C uc001fwe.1 - 5 838 c.778C>G c.(778-780)CAG>GAG p.Q260E SLAMF6_uc001fwd.1_Missense_Mutation_p.Q260E|SLAMF6_uc010pjh.1_Missense_Mutation_p.Q211E|SLAMF6_uc010pji.1_Missense_Mutation_p.Q149E|SLAMF6_uc010pjj.1_Missense_Mutation_p.Q149E NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 260 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TGTGTTCGCTGAGTAGACAAA 0.488 7 359 --- --- --- --- PASS USP21 27005 broad.mit.edu 37 1 161134932 161134932 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:161134932C>T uc010pke.1 + 13 1983 c.1606C>T c.(1606-1608)CGT>TGT p.R536C USP21_uc010pkf.1_Missense_Mutation_p.R536C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 536 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAATGACTCTCGGTGAGAATA 0.562 8 190 --- --- --- --- PASS FCGR3A 2214 broad.mit.edu 37 1 161518346 161518346 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:161518346G>A uc001gat.3 - 4 321 c.184C>T c.(184-186)CAC>TAC p.H62Y FCGR3A_uc001gar.2_Missense_Mutation_p.H98Y|FCGR3A_uc001gas.2_Missense_Mutation_p.H97Y|FCGR3A_uc009wuh.2_Missense_Mutation_p.H61Y|FCGR3A_uc009wui.2_Missense_Mutation_p.H62Y NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 62 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCTCATTGTGAAACCACTGT 0.552 11 739 --- --- --- --- PASS ATF6 22926 broad.mit.edu 37 1 161833057 161833057 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:161833057C>T uc001gbr.2 + 14 1741 c.1674C>T c.(1672-1674)GCC>GCT p.A558A ATF6_uc001gbq.1_Silent_p.A558A NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 558 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TTTTTGAAGCCATCCGCAGAA 0.303 45 322 --- --- --- --- PASS OLFML2B 25903 broad.mit.edu 37 1 161967758 161967758 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:161967758A>G uc001gbu.2 - 6 1755 c.1331T>C c.(1330-1332)ATG>ACG p.M444T OLFML2B_uc010pkq.1_Missense_Mutation_p.M445T NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 444 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CATAGCTTCCATCAATGCCTC 0.632 22 202 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167086653 167086653 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:167086653C>T uc001geb.1 + 3 294 c.294C>T c.(292-294)AAC>AAT p.N98N NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 98 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ACCTGTACAACCGCGTCAGGG 0.597 15 8 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167086707 167086707 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:167086707G>C uc001geb.1 + 3 348 c.348G>C c.(346-348)CTG>CTC p.L116L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 116 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CCTGTGTCCTGGACCTACAGC 0.572 15 18 --- --- --- --- PASS NME7 29922 broad.mit.edu 37 1 169204413 169204413 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:169204413C>G uc001gfu.2 - 9 1082 c.844G>C c.(844-846)GAG>CAG p.E282Q NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.E246Q NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 282 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) TAGAATTCCTCAACATTAACC 0.254 6 71 --- --- --- --- PASS NME7 29922 broad.mit.edu 37 1 169267888 169267888 + Missense_Mutation SNP C T T rs139755731 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:169267888C>T uc001gfu.2 - 6 792 c.554G>A c.(553-555)CGC>CAC p.R185H NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R149H|NME7_uc001gfv.1_Missense_Mutation_p.R185H NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 185 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) AGCATCTGTGCGTGCCACTCC 0.453 155 117 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169551757 169551757 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:169551757C>G uc001ggg.1 - 2 307 c.162G>C c.(160-162)TTG>TTC p.L54F F5_uc010plr.1_Intron NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 54 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CAGAAAGATTCAAACTGGAAA 0.289 4 97 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169576241 169576241 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:169576241C>T uc001ggi.3 - 9 1530 c.1465G>A c.(1465-1467)GTG>ATG p.V489M SELP_uc001ggh.2_Missense_Mutation_p.V324M|SELP_uc009wvr.2_Missense_Mutation_p.V489M NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 489 Extracellular (Potential).|Sushi 5. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CACTGTAGCACACTTGCTCCC 0.502 85 93 --- --- --- --- PASS SELL 6402 broad.mit.edu 37 1 169672451 169672451 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:169672451C>G uc001ggk.2 - 6 1095 c.897G>C c.(895-897)AAG>AAC p.K299N C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.K252N|SELL_uc001ggl.1_Missense_Mutation_p.K312N NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 299 Extracellular (Potential).|Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) AAATGGTTTTCTTCTTCCCAA 0.423 59 45 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171504701 171504701 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:171504701C>T uc010pmg.1 + 13 2268 c.2002C>T c.(2002-2004)CAG>TAG p.Q668* NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 668 Gln-rich. protein C-terminus binding 0 CAAACAGTTTCAGAAGTCTTT 0.433 16 427 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173814391 173814391 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:173814391G>A uc001gjh.1 + 12 1563 c.1153G>A c.(1153-1155)GAA>AAA p.E385K NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 385 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) GAAAGACATTGAATCCATTAG 0.289 75 117 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176659276 176659276 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:176659276G>T uc001gkz.2 + 5 3305 c.2141G>T c.(2140-2142)GGC>GTC p.G714V PAPPA2_uc001gky.1_Missense_Mutation_p.G714V|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 714 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATTGCAGGTGGCATTGTCCTC 0.418 27 255 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176762710 176762710 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:176762710C>G uc001gkz.2 + 20 6199 c.5035C>G c.(5035-5037)CCA>GCA p.P1679A PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1679 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGTGTGTTCCCCATTGTGTGT 0.458 9 159 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176915110 176915110 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:176915110T>C uc001glc.2 - 13 2413 c.2201A>G c.(2200-2202)AAC>AGC p.N734S ASTN1_uc001glb.1_Missense_Mutation_p.N734S|ASTN1_uc001gld.1_Missense_Mutation_p.N734S|ASTN1_uc009wwx.1_Missense_Mutation_p.N734S NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 742 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CTTGGAATGGTTGTTGTAACC 0.488 11 300 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179380370 179380370 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:179380370G>C uc001gmo.2 + 12 1326 c.1199G>C c.(1198-1200)TGG>TCG p.W400S C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.W188S|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W400S NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 400 Potential. 0 AGAGATATCTGGAGCTCAGCC 0.328 32 104 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183105618 183105618 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:183105618G>C uc001gpy.3 + 25 4469 c.4212G>C c.(4210-4212)AAG>AAC p.K1404N NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1404 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAATGAAAAGACCAGAGAAG 0.567 20 48 --- --- --- --- PASS EDEM3 80267 broad.mit.edu 37 1 184690474 184690474 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:184690474C>A uc010pok.1 - 9 1161 c.900G>T c.(898-900)TTG>TTT p.L300F EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.L300F|EDEM3_uc001gqy.2_Missense_Mutation_p.L223F NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 300 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 CATAGGCTTTCAACAGATATT 0.279 33 95 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186143736 186143736 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:186143736G>C uc001grq.1 + 103 16134 c.15905G>C c.(15904-15906)AGA>ACA p.R5302T HMCN1_uc001grs.1_Missense_Mutation_p.R871T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5302 EGF-like 5; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTATGCCCAAGAGGTTATCGG 0.418 47 100 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186305729 186305729 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:186305729C>G uc001grv.2 - 33 4901 c.4604G>C c.(4603-4605)AGA>ACA p.R1535T NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1535 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTGTGTGGTTCTATCTTGAAG 0.413 T NTRK1 papillary thyroid 6 210 --- --- --- --- PASS B3GALT2 8707 broad.mit.edu 37 1 193150056 193150056 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:193150056G>C uc001gtc.3 - 2 1352 c.637C>G c.(637-639)CAT>GAT p.H213D CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 213 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 ATTATATCATGATATTGTCTG 0.353 58 162 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196963300 196963300 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:196963300C>A uc001gts.3 + 4 649 c.521C>A c.(520-522)TCC>TAC p.S174Y NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 174 Sushi 3. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TTGAAATTCTCCTGCAGAAAA 0.353 75 213 --- --- --- --- PASS ZBTB41 360023 broad.mit.edu 37 1 197150130 197150130 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:197150130G>A uc001gtx.1 - 5 1733 c.1664C>T c.(1663-1665)TCA>TTA p.S555L ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 555 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTCTCGTACTGATTTTCCACA 0.343 40 159 --- --- --- --- PASS ZBTB41 360023 broad.mit.edu 37 1 197169465 197169465 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:197169465C>T uc001gtx.1 - 1 208 c.139G>A c.(139-141)GCT>ACT p.A47T ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CAGTGAAGAGCTTCAGGAGTT 0.388 5 208 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197396927 197396927 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:197396927C>G uc001gtz.2 + 7 2607 c.2472C>G c.(2470-2472)ATC>ATG p.I824M CRB1_uc010poz.1_Missense_Mutation_p.I755M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I712M|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.I305M|CRB1_uc001gub.1_Missense_Mutation_p.I473M NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 824 Extracellular (Potential).|Laminin G-like 2. 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 CGTGGAAAATCGAAAAGGGAG 0.373 21 86 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202701006 202701006 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202701006G>A uc001gyf.2 - 24 4087 c.3971C>T c.(3970-3972)TCA>TTA p.S1324L KDM5B_uc009xag.2_Missense_Mutation_p.S1360L|KDM5B_uc001gyg.1_Missense_Mutation_p.S1166L NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1324 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GTGCAAATATGAGGTTCTGTT 0.418 49 125 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202702639 202702639 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202702639G>A uc001gyf.2 - 23 3915 c.3799C>T c.(3799-3801)CAG>TAG p.Q1267* KDM5B_uc009xag.2_Nonsense_Mutation_p.Q1303*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q1109* NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1267 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AGCAGTTGCTGGGCTCTGTGC 0.522 70 144 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202702640 202702640 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202702640G>A uc001gyf.2 - 23 3914 c.3798C>T c.(3796-3798)GCC>GCT p.A1266A KDM5B_uc009xag.2_Silent_p.A1302A|KDM5B_uc001gyg.1_Silent_p.A1108A NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1266 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GCAGTTGCTGGGCTCTGTGCT 0.522 71 140 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202704571 202704571 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202704571C>G uc001gyf.2 - 22 3525 c.3409G>C c.(3409-3411)GAG>CAG p.E1137Q KDM5B_uc009xag.2_Missense_Mutation_p.E1173Q|KDM5B_uc001gyg.1_Missense_Mutation_p.E979Q NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1137 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GAAGCAGTCTCCTTGCTTTCA 0.388 73 186 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202709841 202709841 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202709841C>G uc001gyf.2 - 20 3161 c.3045G>C c.(3043-3045)CAG>CAC p.Q1015H KDM5B_uc009xag.2_Missense_Mutation_p.Q1051H|KDM5B_uc001gyg.1_Missense_Mutation_p.Q857H NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1015 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CTCTGGCTCTCTGCACTGAGT 0.458 48 101 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202715077 202715077 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202715077C>T uc001gyf.2 - 16 2348 c.2232G>A c.(2230-2232)ATG>ATA p.M744I KDM5B_uc009xag.2_Missense_Mutation_p.M780I|KDM5B_uc001gyg.1_Missense_Mutation_p.M586I NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 744 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 ATGCATTCATCATAGGGTAGA 0.398 125 302 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202729662 202729662 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:202729662C>T uc001gyf.2 - 8 1074 c.958G>A c.(958-960)GAT>AAT p.D320N KDM5B_uc009xag.2_Missense_Mutation_p.D356N|KDM5B_uc001gyg.1_Missense_Mutation_p.D162N NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 320 PHD-type 1. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CGGTCTTCATCATTGCCACTG 0.438 30 64 --- --- --- --- PASS AVPR1B 553 broad.mit.edu 37 1 206224942 206224942 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:206224942C>T uc001hds.2 + 1 660 c.502C>T c.(502-504)CAA>TAA p.Q168* NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 168 Helical; Name=4; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CAGCCTCCCTCAAGTCTTCAT 0.652 37 76 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211256146 211256146 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:211256146G>T uc001hib.2 - 5 704 c.534C>A c.(532-534)GTC>GTA p.V178V KCNH1_uc001hic.2_Silent_p.V178V NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 178 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGTGCTTGTGGACATTCTCGC 0.562 64 118 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214787149 214787149 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:214787149C>T uc001hkm.2 + 2 226 c.52C>T c.(52-54)CAG>TAG p.Q18* NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 18 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAGCTCTTCAGAAAATTCA 0.433 46 122 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216420010 216420010 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:216420010G>T uc001hku.1 - 13 3113 c.2726C>A c.(2725-2727)CCT>CAT p.P909H USH2A_uc001hkv.2_Missense_Mutation_p.P909H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 909 Laminin EGF-like 8.|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) AATGGTCCCAGGTAATGTCCC 0.458 HNSCC(13;0.011) 92 230 --- --- --- --- PASS TGFB2 7042 broad.mit.edu 37 1 218614660 218614660 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:218614660G>C uc001hlm.2 + 7 1854 c.1201G>C c.(1201-1203)GAA>CAA p.E401Q TGFB2_uc001hln.2_Missense_Mutation_p.E429Q|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 401 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) ACCCAAGATTGAACAGCTTTC 0.328 43 140 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222761894 222761894 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:222761894G>C uc009xdz.1 - 2 201 c.12C>G c.(10-12)TTC>TTG p.F4L TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.F4L|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.F4L NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 4 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) ATTCTTCACTGAAATCACTCA 0.383 4 292 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222801268 222801268 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:222801268G>A uc001hnl.2 + 4 715 c.706G>A c.(706-708)GAT>AAT p.D236N MIA3_uc009xea.1_Missense_Mutation_p.D72N NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 236 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) AATGCTGCAAGATAAACTAAA 0.383 31 80 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228401979 228401979 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:228401979C>A uc009xez.1 + 4 1407 c.1363C>A c.(1363-1365)CGG>AGG p.R455R OBSCN_uc001hsn.2_Silent_p.R455R|uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 455 Ig-like 5. 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) CCACTGGCTGCGGAACCAGGA 0.697 16 47 --- --- --- --- PASS TRIM17 51127 broad.mit.edu 37 1 228596932 228596932 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:228596932G>T uc001hsu.2 - 6 1209 c.824C>A c.(823-825)ACC>AAC p.T275N TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.T275N|TRIM17_uc001hsw.2_Missense_Mutation_p.T248N|TRIM17_uc009xfb.2_Missense_Mutation_p.T275N NM_016102 NP_057186 Q9Y577 TRI17_HUMAN tripartite motif-containing 17 isoform 1 275 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Prostate(94;0.0724) CCTGGGTCTGGTTGGGGGGGC 0.582 67 218 --- --- --- --- PASS DISC1 27185 broad.mit.edu 37 1 232172460 232172460 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:232172460G>C uc001huz.2 + 13 2501 c.2448G>C c.(2446-2448)CAG>CAC p.Q816H DISC1_uc001hva.2_Missense_Mutation_p.Q794H NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 816 Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with NDEL1.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Potential. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) GGGAGCTCCAGATGGTGAAGG 0.582 15 32 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235944340 235944340 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:235944340G>C uc001hxj.2 - 16 5214 c.5039C>G c.(5038-5040)TCA>TGA p.S1680* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1680 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGCCTCTTGTGAACCAACCTT 0.343 Chediak-Higashi_syndrome 23 66 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237780608 237780608 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:237780608T>A uc001hyl.1 + 38 5858 c.5738T>A c.(5737-5739)CTC>CAC p.L1913H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1913 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) CTTCAGTACCTCTGTGACTGC 0.378 7 27 --- --- --- --- PASS GREM2 64388 broad.mit.edu 37 1 240656472 240656472 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:240656472T>G uc001hys.2 - 2 584 c.304A>C c.(304-306)AAC>CAC p.N102H NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 102 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) TAGAAGGAGTTGCACTGGCCG 0.647 12 73 --- --- --- --- PASS OPN3 23596 broad.mit.edu 37 1 241767865 241767865 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:241767865G>C uc001hza.2 - 2 535 c.390C>G c.(388-390)GCC>GCG p.A130A OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 130 Helical; Name=3; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CGGTTAGGGTGGCAATGGAAA 0.498 9 38 --- --- --- --- PASS C1orf100 200159 broad.mit.edu 37 1 244538705 244538705 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:244538705C>G uc001iah.2 + 3 201 c.88C>G c.(88-90)CAA>GAA p.Q30E C1orf100_uc001iai.2_Missense_Mutation_p.Q30E NM_001012970 NP_001012988 Q5SVJ3 CA100_HUMAN hypothetical protein LOC200159 30 0 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) AAGAGACGTTCAAGGCTATTA 0.458 32 117 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247592978 247592978 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:247592978G>T uc001icr.2 + 6 2386 c.2248G>T c.(2248-2250)GAC>TAC p.D750Y NLRP3_uc001ics.2_Missense_Mutation_p.D750Y|NLRP3_uc001icu.2_Missense_Mutation_p.D750Y|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.D748Y NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 750 LRR 1. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGACCTCAGTGACAATTCTCT 0.512 12 171 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752339 247752339 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:247752339C>T uc010pyy.1 + 1 678 c.678C>T c.(676-678)CAC>CAT p.H226H NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACATTGCCCACGCAGTGTTGA 0.423 52 132 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875190 247875190 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:247875190A>T uc001idj.1 - 1 868 c.868T>A c.(868-870)TAT>AAT p.Y290N NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CGAAGCGTATAGATGAAGGGG 0.443 68 172 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685476 248685476 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:248685476A>T uc001ien.1 + 1 529 c.529A>T c.(529-531)ATT>TTT p.I177F NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACTGGATCATATTTTCTGTGA 0.537 35 90 --- --- --- --- PASS OR2T29 343563 broad.mit.edu 37 1 248722743 248722743 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:248722743A>C uc001ieo.1 - 1 32 c.32T>G c.(31-33)ATC>AGC p.I11S NM_001004694 NP_001004694 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCCATGAGGATGAAATCCAA 0.493 12 77 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737468 248737468 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:248737468G>C uc001iep.1 - 1 591 c.591C>G c.(589-591)GTC>GTG p.V197V NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 197 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TATAGAGGGAGACGTCAGAGC 0.517 57 235 --- --- --- --- PASS OR2T27 403239 broad.mit.edu 37 1 248813379 248813379 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:248813379C>A uc010pzo.1 - 1 807 c.807G>T c.(805-807)GAG>GAT p.E269D NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTGTCCTGCTCAGGGGTGT 0.527 20 78 --- --- --- --- PASS OR2T27 403239 broad.mit.edu 37 1 248814024 248814024 + Silent SNP G A A rs141254125 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr1:248814024G>A uc010pzo.1 - 1 162 c.162C>T c.(160-162)CGC>CGT p.R54R NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGTGTGGAGGCGGGAGTCTA 0.532 5 38 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1488566 1488566 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:1488566G>A uc002qww.2 + 9 1628 c.1537G>A c.(1537-1539)GAC>AAC p.D513N TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D513N|TPO_uc002qwr.2_Missense_Mutation_p.D513N|TPO_uc002qwx.2_Missense_Mutation_p.D513N|TPO_uc010yio.1_Missense_Mutation_p.D340N|TPO_uc010yip.1_Missense_Mutation_p.D513N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 513 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGAGCACCCCGACCTGCCCGG 0.642 6 113 --- --- --- --- PASS TSSC1 7260 broad.mit.edu 37 2 3217970 3217970 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:3217970C>T uc002qxj.2 - 5 659 c.466G>A c.(466-468)GAT>AAT p.D156N TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 156 WD 1. protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) ATATGGTTATCAGCCAAGGAA 0.398 80 244 --- --- --- --- PASS ID2 3398 broad.mit.edu 37 2 8822394 8822394 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:8822394G>C uc010yiu.1 + 3 594 c.99G>C c.(97-99)ATG>ATC p.M33I ID2_uc002qza.2_Missense_Mutation_p.M33I NM_002166 NP_002157 Q02363 ID2_HUMAN inhibitor of DNA binding 2 33 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACGACCCGATGAGCCTGCTAT 0.562 4 134 --- --- --- --- PASS CPSF3 51692 broad.mit.edu 37 2 9607846 9607846 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:9607846G>A uc002qzo.1 + 16 1832 c.1797G>A c.(1795-1797)CAG>CAA p.Q599Q CPSF3_uc002qzp.1_Silent_p.Q562Q|CPSF3_uc002qzq.1_Silent_p.Q176Q NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 599 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) GTGCAGTACAGAAGGTTTCTA 0.353 4 142 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11741049 11741049 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:11741049G>A uc002rbk.1 + 16 2757 c.2457G>A c.(2455-2457)CCG>CCA p.P819P GREB1_uc002rbo.1_Silent_p.P453P NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 819 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) CCTCCTTCCCGTATGCACTGC 0.592 7 302 --- --- --- --- PASS MYCN 4613 broad.mit.edu 37 2 16086030 16086030 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:16086030C>T uc002rci.2 + 3 1506 c.1206C>T c.(1204-1206)CTC>CTT p.L402L MYCN_uc010yjr.1_Silent_p.L394L NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 402 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.L402F(1) central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCAGCTTTCTCACGCTCAGGG 0.587 A neuroblastoma 16 244 --- --- --- --- PASS RAD51AP2 729475 broad.mit.edu 37 2 17698620 17698620 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:17698620T>C uc002rcl.1 - 1 1087 c.1063A>G c.(1063-1065)AGT>GGT p.S355G RAD51AP2_uc010exn.1_Missense_Mutation_p.S346G NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 355 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CACTGGATACTACTGCAGTTA 0.363 46 135 --- --- --- --- PASS C2orf43 60526 broad.mit.edu 37 2 20901344 20901344 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:20901344C>T uc002rec.2 - 6 805 c.772G>A c.(772-774)GAG>AAG p.E258K C2orf43_uc002rea.1_Missense_Mutation_p.E258K|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Missense_Mutation_p.E128K|C2orf43_uc010ykc.1_Missense_Mutation_p.E210K|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Missense_Mutation_p.E216K|C2orf43_uc010ykf.1_Missense_Mutation_p.E128K NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 258 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATAAATGCTCCTTTATGGTT 0.393 29 617 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24427169 24427169 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:24427169G>C uc002rfe.2 - 39 5139 c.4881C>G c.(4879-4881)CTC>CTG p.L1627L ITSN2_uc002rff.2_Silent_p.L1600L NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1627 C2. 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) CGTCTTGGTAGAGATCCTTAA 0.493 8 210 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27801450 27801450 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:27801450G>C uc002rkz.3 + 1 2062 c.2011G>C c.(2011-2013)GAG>CAG p.E671Q NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 671 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ATCTCCATTTGAGGAACATAC 0.398 85 151 --- --- --- --- PASS SLC4A1AP 22950 broad.mit.edu 37 2 27887280 27887280 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:27887280G>C uc002rlk.3 + 1 943 c.661G>C c.(661-663)GAC>CAC p.D221H SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 221 FHA. cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GTCCGGCCCTGACGGAGAATG 0.607 7 132 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28762018 28762018 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:28762018C>T uc002rmb.1 + 11 671 c.671C>T c.(670-672)TCT>TTT p.S224F PLB1_uc010ezj.1_Missense_Mutation_p.S235F NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 224 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GCAGAGGTCTCTCGTCAGTAT 0.562 26 101 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32673984 32673984 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:32673984G>T uc010ezu.2 + 22 4740 c.4606G>T c.(4606-4608)GAT>TAT p.D1536Y NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1536 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGATTTATCAGATGTCCTTTC 0.328 51 99 --- --- --- --- PASS SLC3A1 6519 broad.mit.edu 37 2 44547706 44547706 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:44547706C>T uc002ruc.3 + 10 2064 c.1986C>T c.(1984-1986)TTC>TTT p.F662F PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.F384F|SLC3A1_uc002rue.3_Silent_p.F282F NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 662 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AAACAGCTTTCAGAGATAGAT 0.423 13 234 --- --- --- --- PASS MSH6 2956 broad.mit.edu 37 2 48018263 48018263 + Splice_Site SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:48018263G>T uc002rwd.3 + 2 609 c.457_splice c.e2+1 p.G153_splice MSH6_uc002rwc.2_Splice_Site_p.G153_splice|MSH6_uc010fbj.2_Splice_Site|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Splice_Site NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 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) CCATATACAGGTAAGAGTCAC 0.348 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 7 128 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48059968 48059968 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:48059968C>T uc010fbl.2 - 9 955 c.841G>A c.(841-843)GAG>AAG p.E281K FBXO11_uc002rwe.2_Missense_Mutation_p.E281K|FBXO11_uc002rwf.2_Missense_Mutation_p.E281K|FBXO11_uc002rwg.1_Missense_Mutation_p.E281K|FBXO11_uc010fbk.2_5'Flank NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 365 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACTGTAATCTCTAAGCAGTGG 0.313 99 228 --- --- --- --- PASS KLRAQ1 129285 broad.mit.edu 37 2 48687003 48687003 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:48687003C>T uc002rwm.2 + 5 671 c.486C>T c.(484-486)ACC>ACT p.T162T KLRAQ1_uc002rwi.1_Silent_p.T162T|KLRAQ1_uc002rwj.2_Silent_p.T162T|KLRAQ1_uc002rwl.2_Silent_p.T116T|KLRAQ1_uc002rwk.2_Silent_p.T162T|KLRAQ1_uc010yok.1_Silent_p.T162T NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 162 Potential. ovary(1) 1 ACGGTCTCACCCGGAAGTACA 0.502 14 69 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60679701 60679701 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:60679701C>T uc010ypj.1 - 4 2609 c.2381G>A c.(2380-2382)TGA>TAA p.*794* BCL11A_uc002sab.2_3'UTR|BCL11A_uc002sac.2_Silent_p.*244*|BCL11A_uc010ypi.1_3'UTR NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 794 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTGGGGGCTTCAAATTTTCTC 0.542 T IGH@ B-CLL 8 153 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61561087 61561087 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:61561087G>A uc002sbe.2 - 19 2786 c.2764C>T c.(2764-2766)CGT>TGT p.R922C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 922 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) GGAAGAAGACGAAGTGAAATT 0.274 7 70 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63091897 63091897 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:63091897A>T uc002sby.2 + 10 1376 c.894A>T c.(892-894)AAA>AAT p.K298N EHBP1_uc010fcp.2_Missense_Mutation_p.K263N|EHBP1_uc002sbx.2_Missense_Mutation_p.K263N|EHBP1_uc002sbz.2_Missense_Mutation_p.K263N|EHBP1_uc002scb.2_Missense_Mutation_p.K263N NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 298 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) CACCTAGAAAAACAGAAGACT 0.328 Hereditary_Prostate_Cancer 7 255 --- --- --- --- PASS VPS54 51542 broad.mit.edu 37 2 64126700 64126700 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:64126700G>A uc002scq.2 - 21 2804 c.2641C>T c.(2641-2643)CCT>TCT p.P881S VPS54_uc002scp.2_Missense_Mutation_p.P869S|VPS54_uc002scn.2_Missense_Mutation_p.P43S|VPS54_uc002sco.2_Missense_Mutation_p.P366S|VPS54_uc010fct.2_Missense_Mutation_p.P728S NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 881 protein transport|retrograde transport, endosome to Golgi 0 GAAGGAACAGGAGCCTTCACT 0.378 51 144 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71753403 71753403 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:71753403C>G uc002sie.2 + 12 1483 c.1107C>G c.(1105-1107)CTC>CTG p.L369L DYSF_uc010feg.2_Silent_p.L400L|DYSF_uc010feh.2_Silent_p.L369L|DYSF_uc002sig.3_Silent_p.L369L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L369L|DYSF_uc010fef.2_Silent_p.L400L|DYSF_uc010fei.2_Silent_p.L400L|DYSF_uc010fek.2_Silent_p.L401L|DYSF_uc010fej.2_Silent_p.L370L|DYSF_uc010fel.2_Silent_p.L370L|DYSF_uc010feo.2_Silent_p.L401L|DYSF_uc010fem.2_Silent_p.L370L|DYSF_uc010fen.2_Silent_p.L401L|DYSF_uc002sif.2_Silent_p.L370L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 369 Cytoplasmic (Potential).|C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GCAACCTGCTCCGGCCCACAG 0.592 90 342 --- --- --- --- PASS EXOC6B 23233 broad.mit.edu 37 2 72968457 72968457 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:72968457C>A uc010fep.2 - 2 393 c.255G>T c.(253-255)GTG>GTT p.V85V EXOC6B_uc002sij.2_Silent_p.V85V NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 85 Potential. protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 CTTCTCCTCTCACTTTCAGCA 0.408 17 396 --- --- --- --- PASS SMYD5 10322 broad.mit.edu 37 2 73453006 73453006 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:73453006G>T uc002siw.2 + 13 1218 c.1189G>T c.(1189-1191)GAA>TAA p.E397* SMYD5_uc010yre.1_Nonsense_Mutation_p.E281*|SMYD5_uc002six.1_RNA NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 397 Glu-rich. metal ion binding 0 agaggaagaggaagaggagga 0.463 56 204 --- --- --- --- PASS C2orf7 84279 broad.mit.edu 37 2 73456653 73456653 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:73456653C>G uc002siy.2 - 3 282 c.214G>C c.(214-216)GAG>CAG p.E72Q NM_032319 NP_115695 Q9BSG0 PADC1_HUMAN chromosome 2 open reading frame 7 precursor 72 extracellular region 0 CCGCAGGCCTCTGGAGGTTCA 0.532 6 225 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043401 74043401 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:74043401C>A uc002sjr.1 + 3 2172 c.2051C>A c.(2050-2052)CCG>CAG p.P684Q NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 684 ovary(2) 2 GGTAAAGGCCCGGAGAAAATT 0.517 31 89 --- --- --- --- PASS MOGS 7841 broad.mit.edu 37 2 74690051 74690051 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:74690051G>A uc010ffj.2 - 4 1028 c.865C>T c.(865-867)CCC>TCC p.P289S MOGS_uc010ffh.2_Missense_Mutation_p.P14S|MOGS_uc010yrt.1_Missense_Mutation_p.P170S|MOGS_uc010ffi.2_Missense_Mutation_p.P183S|MOGS_uc010yru.1_3'UTR NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 289 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GCCCCTGGGGGCCGATGCTGA 0.587 18 442 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74902690 74902690 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:74902690C>G uc002sna.1 + 11 1522 c.1411C>G c.(1411-1413)CAG>GAG p.Q471E SEMA4F_uc010ffq.1_Missense_Mutation_p.Q438E|SEMA4F_uc010ffr.1_Missense_Mutation_p.Q83E|SEMA4F_uc002snb.1_Missense_Mutation_p.Q83E|SEMA4F_uc002snc.1_Missense_Mutation_p.Q316E NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 471 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GATCGGAGCTCAGCTCAGCGT 0.498 57 184 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136780 80136780 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:80136780G>A uc010ysh.1 + 6 918 c.913G>A c.(913-915)GAG>AAG p.E305K CTNNA2_uc010yse.1_Missense_Mutation_p.E305K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E305K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E305K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 305 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GTCCCTGGAGGAGAGGCTGGA 0.597 40 128 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95539782 95539782 + Missense_Mutation SNP G C C rs143585686 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:95539782G>C uc002stw.1 + 3 735 c.642G>C c.(640-642)GAG>GAC p.E214D uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 214 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 ACATCGACGAGACCTGCGGGC 0.642 31 104 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98866858 98866858 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:98866858C>G uc002syo.2 + 20 3015 c.2751C>G c.(2749-2751)ATC>ATG p.I917M VWA3B_uc002sym.2_Missense_Mutation_p.I917M|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.I574M|VWA3B_uc002syp.1_Missense_Mutation_p.I309M|VWA3B_uc002syq.1_Missense_Mutation_p.I193M|VWA3B_uc002syr.1_Missense_Mutation_p.I234M|VWA3B_uc010fii.1_RNA|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 917 ovary(3)|large_intestine(2)|skin(1) 6 AACTCAATATCTACAAGCGAA 0.403 57 135 --- --- --- --- PASS CREG2 200407 broad.mit.edu 37 2 101967465 101967465 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:101967465T>C uc002tba.2 - 4 839 c.793A>G c.(793-795)ATC>GTC p.I265V NM_153836 NP_722578 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 265 extracellular region FMN binding ovary(1) 1 TGAAGCCAGATATGTTCTATC 0.453 56 169 --- --- --- --- PASS GPR45 11250 broad.mit.edu 37 2 105859124 105859124 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:105859124T>A uc002tco.1 + 1 925 c.809T>A c.(808-810)CTG>CAG p.L270Q NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 270 Helical; Name=6; (Potential). L -> P (in Ref. 3; AAH67455). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 ACCACCATCCTGATCCTCTTC 0.622 123 262 --- --- --- --- PASS SULT1C2 6819 broad.mit.edu 37 2 108921915 108921915 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:108921915G>C uc002tdy.2 + 7 1095 c.642G>C c.(640-642)AAG>AAC p.K214N SULT1C2_uc010ywp.1_Missense_Mutation_p.K129N|SULT1C2_uc002tdx.2_Missense_Mutation_p.K225N|SULT1C2_uc010ywq.1_Missense_Mutation_p.K228N NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 214 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 TCATGGGAAAGAAGGTGGATG 0.393 21 76 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109397776 109397776 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:109397776C>T uc002tem.3 + 26 8777 c.8651C>T c.(8650-8652)TCA>TTA p.S2884L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2884 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GGAACACAGTCAGTCGGAACC 0.358 24 80 --- --- --- --- PASS IL1B 3553 broad.mit.edu 37 2 113588118 113588118 + Silent SNP C T T rs138009692 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:113588118C>T uc002tii.1 - 7 717 c.630G>A c.(628-630)AAG>AAA p.K210K IL1B_uc002tih.1_Silent_p.K179K NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 210 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GCTTTTCCATCTTCTTCTTTG 0.418 86 177 --- --- --- --- PASS DBI 1622 broad.mit.edu 37 2 120125782 120125782 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:120125782G>T uc002tlv.2 + 2 152 c.28G>T c.(28-30)GCA>TCA p.A10S C2orf76_uc002tls.2_5'Flank|C2orf76_uc010flf.1_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyh.1_Missense_Mutation_p.A27S|DBI_uc010yyi.1_Missense_Mutation_p.A27S|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.A52S|DBI_uc010yyl.1_Missense_Mutation_p.A27S|DBI_uc010yym.1_Missense_Mutation_p.A20S|DBI_uc010yyn.1_Missense_Mutation_p.A27S|DBI_uc002tlw.2_Missense_Mutation_p.A27S|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.A11S|DBI_uc010yyp.1_5'Flank NM_001079862 NP_001073331 P07108 ACBP_HUMAN diazepam binding inhibitor isoform 3 10 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding 0 TGAGAAAGCTGCAGAGGAGGT 0.517 56 152 --- --- --- --- PASS TFCP2L1 29842 broad.mit.edu 37 2 121981961 121981961 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:121981961C>G uc002tmx.2 - 15 1489 c.1396G>C c.(1396-1398)GAG>CAG p.E466Q TFCP2L1_uc010flr.2_Missense_Mutation_p.E401Q|TFCP2L1_uc010flq.2_RNA NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 466 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) TCATTGCTCTCAGCTGCAAGA 0.517 4 34 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520801 131520801 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:131520801G>T uc002trw.2 + 2 1346 c.1156G>T c.(1156-1158)GGC>TGC p.G386C FAM123C_uc010fmv.2_Missense_Mutation_p.G386C|FAM123C_uc010fms.1_Missense_Mutation_p.G386C|FAM123C_uc010fmt.1_Missense_Mutation_p.G386C|FAM123C_uc010fmu.1_Missense_Mutation_p.G386C NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 386 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AAGTGACGAGGGCTACTATGA 0.627 21 81 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021592 132021592 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:132021592C>G uc002tsn.2 + 15 2616 c.2564C>G c.(2563-2565)TCT>TGT p.S855C PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S455C|POTEE_uc002tsl.2_Missense_Mutation_p.S437C|POTEE_uc010fmy.1_Missense_Mutation_p.S319C NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 855 Actin-like. ATP binding 0 GTGATGGACTCTGGTGACGGG 0.612 6 206 --- --- --- --- PASS R3HDM1 23518 broad.mit.edu 37 2 136393534 136393534 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:136393534G>C uc002tuo.2 + 10 1143 c.773G>C c.(772-774)AGA>ACA p.R258T R3HDM1_uc010fni.2_Missense_Mutation_p.R256T|R3HDM1_uc002tup.2_Missense_Mutation_p.R202T|R3HDM1_uc010zbh.1_Missense_Mutation_p.R90T NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 258 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) ATCCTCAAGAGAGATAACTCT 0.303 9 260 --- --- --- --- PASS UBXN4 23190 broad.mit.edu 37 2 136528164 136528164 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:136528164G>C uc002tur.2 + 8 992 c.681G>C c.(679-681)GAG>GAC p.E227D UBXN4_uc002tus.2_5'UTR NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 227 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 AGGAAATTGAGAGGAGAAAAA 0.303 4 21 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137748464 137748464 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:137748464G>T uc002tva.1 + 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GCGAAACGATGCATAACACAG 0.403 4 10 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141232707 141232707 + Missense_Mutation SNP C A A rs77794732 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:141232707C>A uc002tvj.1 - 60 10597 c.9625G>T c.(9625-9627)GTC>TTC p.V3209F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3209 Extracellular (Potential).|LDL-receptor class B 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGACCAACCTTTGTGTCTA 0.289 TSP Lung(27;0.18) 24 176 --- --- --- --- PASS ARHGAP15 55843 broad.mit.edu 37 2 144381815 144381815 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:144381815G>C uc002tvm.3 + 12 1268 c.1117G>C c.(1117-1119)GAG>CAG p.E373Q ARHGAP15_uc002tvn.2_Missense_Mutation_p.E139Q NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 373 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) CAGTTTCTTTGAGCAGTTTGT 0.458 4 88 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149799217 149799217 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:149799217G>A uc010zbu.1 + 7 900 c.532G>A c.(532-534)GAG>AAG p.E178K NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 178 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) GTCGAGCCCTGAGGAAGTCAT 0.493 6 16 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149806962 149806962 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:149806962G>C uc010zbu.1 + 10 1322 c.954G>C c.(952-954)CTG>CTC p.L318L KIF5C_uc002tws.1_RNA NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 318 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) AGTCCACACTGATGTTCGGAC 0.453 15 35 --- --- --- --- PASS NMI 9111 broad.mit.edu 37 2 152132274 152132274 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:152132274G>A uc002txi.2 - 5 775 c.445C>T c.(445-447)CAG>TAG p.Q149* NMI_uc010zbx.1_Nonsense_Mutation_p.Q149* NM_004688 NP_004679 Q13287 NMI_HUMAN N-myc and STAT interactor 149 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity 0 BRCA - Breast invasive adenocarcinoma(221;0.0571) CCTGTTACCTGGAATCTGACT 0.353 10 121 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152427061 152427061 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:152427061C>T uc010fnx.2 - 80 12156 c.11965G>A c.(11965-11967)GAT>AAT p.D3989N NEB_uc002txr.2_Missense_Mutation_p.D412N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3989 Nebulin 109. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGATGGCATCCAGCCGGACA 0.483 4 16 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159536982 159536982 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:159536982G>A uc002tzv.2 + 22 3632 c.3372G>A c.(3370-3372)AAG>AAA p.K1124K PKP4_uc002tzw.2_Silent_p.K1081K|PKP4_uc002tzx.2_Silent_p.K781K|PKP4_uc002uaa.2_Silent_p.K933K|uc002uab.1_Intron|PKP4_uc002uac.2_Silent_p.K305K|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1124 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CCAACAGAAAGAACTTTGATG 0.328 HNSCC(62;0.18) 26 214 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848121 166848121 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:166848121C>G uc010zcz.1 - 26 5649 c.5631G>C c.(5629-5631)CAG>CAC p.Q1877H NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1888 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTCTTCCATCTGTATTCGTA 0.438 17 162 --- --- --- --- PASS B3GALT1 8708 broad.mit.edu 37 2 168726011 168726011 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:168726011C>G uc002udz.1 + 2 813 c.462C>G c.(460-462)CTC>CTG p.L154L NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 154 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 ACCTTACCCTCAAAACATTAA 0.408 33 91 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173659797 173659797 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:173659797G>T uc002uhv.3 + 2 297 c.110G>T c.(109-111)CGA>CTA p.R37L RAPGEF4_uc002uhu.2_Missense_Mutation_p.R37L|RAPGEF4_uc010fqn.2_Missense_Mutation_p.R20L NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 37 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATCTTCACTCGACTGAAAGAA 0.378 71 333 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173891404 173891404 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:173891404A>G uc002uhv.3 + 24 2545 c.2358A>G c.(2356-2358)GAA>GAG p.E786E RAPGEF4_uc002uhw.3_Silent_p.E642E NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 786 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGATTGGGAACTCTTCAACT 0.438 41 131 --- --- --- --- PASS EVX2 344191 broad.mit.edu 37 2 176948324 176948324 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:176948324C>T uc010zeu.1 - 1 367 c.181G>A c.(181-183)GCT>ACT p.A61T NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 61 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TCTCCCAGAGCGCTGTGCAGG 0.607 11 92 --- --- --- --- PASS DFNB59 494513 broad.mit.edu 37 2 179319253 179319253 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:179319253C>T uc002umi.3 + 3 762 c.406C>T c.(406-408)CGA>TGA p.R136* DFNB59_uc002umj.3_Nonsense_Mutation_p.R136* NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 136 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AATTACTACACGGTCAGTATA 0.299 25 64 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179424611 179424611 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:179424611C>T uc010zfg.1 - 275 78768 c.78544G>A c.(78544-78546)GAA>AAA p.E26182K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19877K|TTN_uc010zfi.1_Missense_Mutation_p.E19810K|TTN_uc010zfj.1_Missense_Mutation_p.E19685K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27109 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) AAAGGTTCTTCTTCTCTTTCC 0.428 7 215 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431097 179431097 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:179431097C>G uc010zfg.1 - 275 72282 c.72058G>C c.(72058-72060)GAA>CAA p.E24020Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17715Q|TTN_uc010zfi.1_Missense_Mutation_p.E17648Q|TTN_uc010zfj.1_Missense_Mutation_p.E17523Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24947 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) TCAGGTGCTTCAAGTTTATCT 0.423 22 424 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179546413 179546413 + Silent SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:179546413T>G uc010zfg.1 - 133 29639 c.29415A>C c.(29413-29415)ACA>ACC p.T9805T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T6466T|TTN_uc010fre.1_Silent_p.T652T|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10732 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) CCTTTGGTTTTGTGGGAACTG 0.378 63 119 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613783 179613783 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:179613783C>G uc002unb.2 - 46 13568 c.13344G>C c.(13342-13344)GAG>GAC p.E4448D TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTAGTGTATCTCTTCACCAA 0.338 22 135 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189964841 189964841 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:189964841C>G uc002uqk.2 - 4 636 c.361G>C c.(361-363)GTG>CTG p.V121L NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 121 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACAACAGGCACTAATCCTGGT 0.313 23 112 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196620855 196620855 + Splice_Site SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:196620855A>C uc002utj.3 - 62 11687 c.11586_splice c.e62+1 p.Q3862_splice DNAH7_uc002uti.3_Splice_Site_p.Q345_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGACGAACTTACCTGCAAGAA 0.368 15 94 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197171251 197171251 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:197171251G>A uc002utm.1 - 13 2958 c.2775C>T c.(2773-2775)CTC>CTT p.L925L HECW2_uc002utl.1_Silent_p.L569L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 925 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTGGGCTGATGAGGAACTTCA 0.512 23 132 --- --- --- --- PASS CASP10 843 broad.mit.edu 37 2 202050702 202050702 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:202050702G>A uc002uxl.1 + 2 620 c.202G>A c.(202-204)GAG>AAG p.E68K CASP10_uc002uxi.1_Missense_Mutation_p.E68K|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.E68K|CASP10_uc002uxk.1_Missense_Mutation_p.E68K|CASP10_uc010fta.1_Missense_Mutation_p.E68K|CASP10_uc002uxm.1_Missense_Mutation_p.E68K|CASP10_uc010ftb.1_RNA NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein 68 DED 1. E -> G (in Ref. 2; AAB46730). apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 TCTCTTGGCAGAGGATCTGCT 0.488 16 77 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202521026 202521026 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:202521026C>A uc002uyk.3 - 17 1403 c.1195G>T c.(1195-1197)GTG>TTG p.V399L MPP4_uc002uyi.3_Missense_Mutation_p.V17L|MPP4_uc010ftj.2_Missense_Mutation_p.V392L|MPP4_uc010zhq.1_Missense_Mutation_p.V368L|MPP4_uc010zhr.1_Missense_Mutation_p.V375L|MPP4_uc010zhs.1_Missense_Mutation_p.V324L|MPP4_uc002uyj.3_Missense_Mutation_p.V364L|MPP4_uc010zht.1_Missense_Mutation_p.V341L|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.V355L NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 399 cytoplasm protein binding 0 GTGCAGCACACACTGGCATGC 0.612 3 0 --- --- --- --- PASS WDR12 55759 broad.mit.edu 37 2 203760895 203760895 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:203760895G>C uc002uzl.2 - 6 1252 c.502C>G c.(502-504)CTC>GTC p.L168V WDR12_uc010ftt.2_Missense_Mutation_p.L168V NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 168 WD 2.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TCCCATAAGAGAATAGTCTGA 0.393 17 124 --- --- --- --- PASS CTLA4 1493 broad.mit.edu 37 2 204737534 204737534 + Nonstop_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:204737534G>T uc002vak.1 + 4 828 c.671G>T c.(670-672)TGA>TTA p.*224L CTLA4_uc002val.1_3'UTR|CTLA4_uc010fty.1_3'UTR|CTLA4_uc010ftz.1_RNA NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 224 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) CCCATCAATTGAGAAACCATT 0.363 24 72 --- --- --- --- PASS GPR1 2825 broad.mit.edu 37 2 207041686 207041686 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:207041686A>C uc002vbl.3 - 3 672 c.286T>G c.(286-288)TAT>GAT p.Y96D GPR1_uc010fue.2_Missense_Mutation_p.Y96D|GPR1_uc010fuf.2_Missense_Mutation_p.Y96D NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 96 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ATGGCCACATAGGAGATGTAC 0.478 85 191 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207174260 207174260 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:207174260G>C uc002vbp.2 + 5 5258 c.5008G>C c.(5008-5010)GAA>CAA p.E1670Q NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1670 nucleic acid binding|zinc ion binding ovary(3) 3 ATTTAATTTGGAAGACACTTC 0.408 3 113 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207459510 207459510 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:207459510G>A uc002vbq.2 + 23 2351 c.2128G>A c.(2128-2130)GAT>AAT p.D710N ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 710 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CTATGTAGAAGATGGAACGCC 0.428 28 160 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211476995 211476995 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:211476995C>A uc002vee.3 + 20 2678 c.2546C>A c.(2545-2547)ACG>AAG p.T849K CPS1_uc010fur.2_Missense_Mutation_p.T855K|CPS1_uc010fus.2_Missense_Mutation_p.T398K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 849 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCAAGCAGCACGCGTATCTAT 0.428 53 142 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211502462 211502462 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:211502462G>T uc002vee.3 + 22 2856 c.2724G>T c.(2722-2724)AAG>AAT p.K908N CPS1_uc010fur.2_Missense_Mutation_p.K914N|CPS1_uc010fus.2_Missense_Mutation_p.K457N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 908 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAAGGGCAAAGGAGATTGGGT 0.418 32 154 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211512728 211512728 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:211512728G>A uc002vee.3 + 26 3415 c.3283G>A c.(3283-3285)GTC>ATC p.V1095I CPS1_uc010fur.2_Missense_Mutation_p.V1101I|CPS1_uc010fus.2_Missense_Mutation_p.V644I NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1095 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTTCTCAGCTGTCTTGGATGA 0.463 60 144 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212483998 212483998 + Silent SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:212483998A>C uc002veg.1 - 19 2303 c.2205T>G c.(2203-2205)GGT>GGG p.G735G ERBB4_uc002veh.1_Silent_p.G735G|ERBB4_uc010zji.1_Silent_p.G725G|ERBB4_uc010zjj.1_Silent_p.G725G|ERBB4_uc010fut.1_Silent_p.G735G NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 735 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTACCCAAATACCCTTTGGGG 0.313 TSP Lung(8;0.080) 16 116 --- --- --- --- PASS BARD1 580 broad.mit.edu 37 2 215595156 215595156 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:215595156G>C uc002veu.2 - 10 2115 c.1980C>G c.(1978-1980)AGC>AGG p.S660R BARD1_uc010zjm.1_Missense_Mutation_p.S516R NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 660 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGTTGAGCCTGCTTCTGCGTG 0.363 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 46 122 --- --- --- --- PASS TNS1 7145 broad.mit.edu 37 2 218682809 218682809 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:218682809G>A uc002vgt.2 - 24 4332 c.3934C>T c.(3934-3936)CCC>TCC p.P1312S TNS1_uc002vgr.2_Missense_Mutation_p.P1299S|TNS1_uc002vgs.2_Missense_Mutation_p.P1291S|TNS1_uc010zjv.1_Missense_Mutation_p.P1291S NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1312 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGCTGCCGGGAACCACAGAT 0.632 4 28 --- --- --- --- PASS CXCR2 3579 broad.mit.edu 37 2 219000499 219000499 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:219000499C>T uc002vgz.1 + 4 1200 c.975C>T c.(973-975)CTC>CTT p.L325L CXCR2_uc002vha.1_Silent_p.L325L|CXCR2_uc002vhb.1_Silent_p.L325L NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 325 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 GCCATGGACTCCTCAAGATTC 0.542 32 151 --- --- --- --- PASS ATG9A 79065 broad.mit.edu 37 2 220091598 220091598 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:220091598C>G uc002vke.1 - 5 391 c.205G>C c.(205-207)GAG>CAG p.E69Q ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.E69Q|ANKZF1_uc010zkv.1_5'Flank|ANKZF1_uc010zkw.1_5'Flank|ANKZF1_uc002vkg.2_5'Flank|ANKZF1_uc002vkh.2_5'Flank NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 69 Helical; (Potential). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TACATGAGCTCAAAGATCTCC 0.373 5 159 --- --- --- --- PASS GLB1L 79411 broad.mit.edu 37 2 220103023 220103023 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:220103023G>C uc002vkm.2 - 14 1529 c.1290C>G c.(1288-1290)TTC>TTG p.F430L GLB1L_uc002vkk.2_Missense_Mutation_p.F187L|GLB1L_uc010zkx.1_Missense_Mutation_p.F340L|GLB1L_uc002vkn.2_Missense_Mutation_p.F430L NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 430 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGCACCCAGAATGGTGTTG 0.488 70 141 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220161194 220161194 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:220161194G>A uc002vkz.2 - 17 2444 c.2355C>T c.(2353-2355)GGC>GGT p.G785G PTPRN_uc010zlc.1_Silent_p.G695G|PTPRN_uc002vla.2_Silent_p.G756G|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 785 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGGACAGCGGGCCCTGCGTGG 0.597 44 104 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225371641 225371641 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:225371641C>G uc002vny.2 - 7 1347 c.963G>C c.(961-963)TTG>TTC p.L321F CUL3_uc010zls.1_Missense_Mutation_p.L255F|CUL3_uc010fwy.1_Missense_Mutation_p.L327F NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 321 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTGCTCCCTCAAATAGGAAC 0.378 50 106 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230638826 230638826 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:230638826T>A uc002vpw.1 - 37 5565 c.5456A>T c.(5455-5457)GAG>GTG p.E1819V TRIP12_uc002vpx.1_Missense_Mutation_p.E1867V|TRIP12_uc002vpy.1_Missense_Mutation_p.E1549V NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1819 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TAGATACTCCTCTAAATTGTG 0.463 44 132 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230638827 230638827 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:230638827C>A uc002vpw.1 - 37 5564 c.5455G>T c.(5455-5457)GAG>TAG p.E1819* TRIP12_uc002vpx.1_Nonsense_Mutation_p.E1867*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.E1549* NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1819 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGATACTCCTCTAAATTGTGG 0.468 44 134 --- --- --- --- PASS HTR2B 3357 broad.mit.edu 37 2 231973603 231973603 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:231973603G>C uc002vro.2 - 4 1579 c.1074C>G c.(1072-1074)CTC>CTG p.L358L PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Silent_p.L291L NM_000867 NP_000858 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B 358 Extracellular (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) GGAGCATTTGGAGAGTAGTTT 0.383 3 198 --- --- --- --- PASS LRRFIP1 9208 broad.mit.edu 37 2 238672274 238672274 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:238672274G>A uc002vxe.2 + 11 2210 c.1918G>A c.(1918-1920)GAA>AAA p.E640K LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.E616K|LRRFIP1_uc002vxf.2_Missense_Mutation_p.E584K NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 640 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGAAAGCAGTGAAAATGTTGA 0.423 11 38 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242066101 242066101 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:242066101G>A uc002wao.1 - 10 2321 c.2229C>T c.(2227-2229)CTC>CTT p.L743L PASK_uc010zol.1_Silent_p.L557L|PASK_uc010zom.1_Silent_p.L708L|PASK_uc010fzl.1_Silent_p.L743L|PASK_uc010zon.1_Silent_p.L524L|PASK_uc002wap.2_Silent_p.L286L|PASK_uc002waq.2_Silent_p.L743L NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 743 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGAGTTCCTTGAGGTTCCAGG 0.547 47 98 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242312635 242312635 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr2:242312635G>C uc002wbi.1 + 2 230 c.113G>C c.(112-114)AGA>ACA p.R38T FARP2_uc010zoq.1_Missense_Mutation_p.R38T|FARP2_uc010zor.1_Missense_Mutation_p.R38T NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 38 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CTCTTGCCCAGAATGCAAGAG 0.507 12 92 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 3081838 3081838 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:3081838G>T uc003bpc.2 + 19 2502 c.2281G>T c.(2281-2283)GTG>TTG p.V761L CNTN4_uc003bpb.1_Missense_Mutation_p.V432L|CNTN4_uc003bpe.2_Missense_Mutation_p.V433L|CNTN4_uc003bpf.2_Missense_Mutation_p.V432L|CNTN4_uc003bpg.2_Missense_Mutation_p.V17L NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 761 Fibronectin type-III 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTCTAGATACGTGTTCAGGAA 0.522 62 112 --- --- --- --- PASS CAV3 859 broad.mit.edu 37 3 8787497 8787497 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:8787497G>A uc003bra.2 + 2 467 c.400G>A c.(400-402)GCG>ACG p.A134T C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.A134T NM_001234 NP_001225 P56539 CAV3_HUMAN caveolin 3 134 Cytoplasmic (Potential). cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity lung(1)|breast(1) 2 CCCACTCTTCGCGGCCCTGGG 0.622 34 63 --- --- --- --- PASS IL17RE 132014 broad.mit.edu 37 3 9945092 9945092 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:9945092C>G uc003btu.2 + 3 261 c.144C>G c.(142-144)TTC>TTG p.F48L CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.F48L|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Missense_Mutation_p.F48L|IL17RE_uc003btx.2_Intron|IL17RE_uc010hcq.2_Missense_Mutation_p.F48L|IL17RE_uc003bty.2_Intron NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 48 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ATGACAGTTTCACTGGTGAGT 0.507 46 88 --- --- --- --- PASS CCR4 1233 broad.mit.edu 37 3 32995269 32995269 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:32995269G>A uc003cfg.1 + 2 523 c.355G>A c.(355-357)GTG>ATG p.V119M NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 119 Helical; Name=3; (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 GATGTACTTGGTGGGCTTTTA 0.483 25 354 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36875113 36875113 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:36875113G>T uc003cgj.2 - 12 4481 c.4179C>A c.(4177-4179)TTC>TTA p.F1393L NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1943 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ATGAGGCCTGGAAGTCCTTGT 0.577 9 40 --- --- --- --- PASS DLEC1 9940 broad.mit.edu 37 3 38158078 38158078 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:38158078G>A uc003cho.1 + 28 4012 c.3991G>A c.(3991-3993)GAG>AAG p.E1331K DLEC1_uc003chp.1_Missense_Mutation_p.E1331K|DLEC1_uc010hgv.1_Missense_Mutation_p.E1334K|DLEC1_uc003chr.1_Missense_Mutation_p.E402K|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1331 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TGATACCCCTGAGGGTGGCTG 0.622 4 164 --- --- --- --- PASS MYRIP 25924 broad.mit.edu 37 3 40231546 40231546 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:40231546G>A uc003cka.2 + 10 1392 c.1257G>A c.(1255-1257)AGG>AGA p.R419R MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R419R|MYRIP_uc010hhw.2_Silent_p.R330R|MYRIP_uc011ayz.1_Silent_p.R232R|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 419 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CCCTGCCCAGGAACCCCCAGC 0.632 50 95 --- --- --- --- PASS ZNF621 285268 broad.mit.edu 37 3 40571743 40571743 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:40571743G>A uc003ckm.2 + 4 411 c.195G>A c.(193-195)GAG>GAA p.E65E ZNF621_uc003ckn.2_Silent_p.E65E|ZNF621_uc003cko.2_Silent_p.E30E|ZNF621_uc011aze.1_Silent_p.E57E NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CCCACCTGGAGAGAGGGGAAG 0.507 18 145 --- --- --- --- PASS ZNF502 91392 broad.mit.edu 37 3 44763395 44763395 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:44763395G>C uc011baa.1 + 4 1341 c.1086G>C c.(1084-1086)CAG>CAC p.Q362H ZNF502_uc003cns.2_Missense_Mutation_p.Q362H|ZNF502_uc011bab.1_Missense_Mutation_p.Q362H|ZNF502_uc003cnt.2_Missense_Mutation_p.Q362H NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 362 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) CCTTTTGTCAGAGCCCATCTC 0.403 47 69 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47462159 47462159 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:47462159G>A uc003crh.1 - 12 1703 c.1448C>T c.(1447-1449)TCC>TTC p.S483F SCAP_uc011baz.1_Missense_Mutation_p.S228F|SCAP_uc003crg.2_Missense_Mutation_p.S91F NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 483 Cytoplasmic (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GTGGGGTGTGGACGGCCTCAC 0.662 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 33 --- --- --- --- PASS CCDC51 79714 broad.mit.edu 37 3 48474121 48474121 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:48474121C>G uc003csz.2 - 4 1054 c.933G>C c.(931-933)AGG>AGC p.R311S PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.R202S|CCDC51_uc003ctb.2_Missense_Mutation_p.R202S|CCDC51_uc003ctc.2_Missense_Mutation_p.R311S|CCDC51_uc003ctd.2_Missense_Mutation_p.R202S NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 311 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AATGGACTTGCCTGGAATGAC 0.517 41 73 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52360904 52360904 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:52360904G>T uc011bef.1 + 5 996 c.735G>T c.(733-735)CTG>CTT p.L245L DNAH1_uc003ddt.1_Silent_p.L245L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 245 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCTCCCACTGAAGGTGAGCC 0.597 5 25 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52420190 52420190 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:52420190C>T uc011bef.1 + 55 8901 c.8640C>T c.(8638-8640)ATC>ATT p.I2880I DNAH1_uc003ddv.2_5'UTR NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2880 Potential.|Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATACGGCCATCGCCGAGGAGA 0.428 5 31 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52643429 52643429 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:52643429C>G uc003des.2 - 16 2479 c.2467G>C c.(2467-2469)GAC>CAC p.D823H PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.D823H|PBRM1_uc003der.2_Missense_Mutation_p.D791H|PBRM1_uc003det.2_Missense_Mutation_p.D838H|PBRM1_uc003deu.2_Missense_Mutation_p.D838H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.D823H|PBRM1_uc010hmk.1_Missense_Mutation_p.D823H|PBRM1_uc003dey.2_Missense_Mutation_p.D823H|PBRM1_uc003dez.1_Missense_Mutation_p.D823H|PBRM1_uc003dfb.1_Missense_Mutation_p.D736H|PBRM1_uc003dfa.1_Missense_Mutation_p.D169H|PBRM1_uc003dfc.2_Missense_Mutation_p.D190H NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 823 Bromo 6. 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) CTAATTATGTCAAATGTAAGG 0.403 Mis|N|F|S|D|O clear cell renal carcinoma|breast 57 114 --- --- --- --- PASS APPL1 26060 broad.mit.edu 37 3 57291330 57291330 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:57291330C>G uc003dio.2 + 15 1451 c.1304C>G c.(1303-1305)TCT>TGT p.S435C APPL1_uc010hnb.2_Missense_Mutation_p.S435C|APPL1_uc011bey.1_Missense_Mutation_p.S418C NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 435 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GGATCTGAGTCTACAAATTTG 0.458 54 115 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58134386 58134386 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:58134386C>T uc003djj.2 + 36 6063 c.5898C>T c.(5896-5898)TTC>TTT p.F1966F FLNB_uc010hne.2_Silent_p.F1997F|FLNB_uc003djk.2_Silent_p.F1955F|FLNB_uc010hnf.2_Silent_p.F1942F|FLNB_uc003djl.2_Silent_p.F1786F|FLNB_uc003djm.2_Silent_p.F1773F|FLNB_uc010hng.1_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1966 Filamin 18.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GCATCTCCTTCATCCCCCGGG 0.527 25 44 --- --- --- --- PASS ATXN7 6314 broad.mit.edu 37 3 63965681 63965681 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:63965681G>C uc003dlw.3 + 6 1143 c.590G>C c.(589-591)GGA>GCA p.G197A ATXN7_uc003dlv.2_Missense_Mutation_p.G197A|ATXN7_uc010hnv.2_Missense_Mutation_p.G197A|ATXN7_uc010hnw.2_Missense_Mutation_p.G52A|ATXN7_uc011bfn.1_Missense_Mutation_p.G52A NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 197 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AAAAGCAAAGGAGGCAGTGCA 0.478 11 128 --- --- --- --- PASS PSMD6 9861 broad.mit.edu 37 3 64004611 64004611 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:64004611G>C uc003dma.1 - 4 625 c.600C>G c.(598-600)CTC>CTG p.L200L PSMD6_uc003dlz.1_Silent_p.L151L|PSMD6_uc003dmb.1_Silent_p.L253L|PSMD6_uc003dmc.1_Silent_p.L161L|PSMD6_uc003dmd.1_Silent_p.L162L NM_014814 NP_055629 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, 200 PCI. 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 proteasome complex ATPase activity|protein binding central_nervous_system(1)|skin(1) 2 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) TGTCAAGGAAGAGTTCAGCTG 0.388 50 289 --- --- --- --- PASS FLJ10213 55096 broad.mit.edu 37 3 73111632 73111632 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:73111632G>C uc003dpj.2 + 1 823 c.400G>C c.(400-402)GAT>CAT p.D134H PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron NM_018029 NP_060499 Q6P2I7 EBLN2_HUMAN hypothetical protein LOC55096 134 protein binding 0 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;3.9e-05)|BRCA - Breast invasive adenocarcinoma(55;7.72e-05)|LUSC - Lung squamous cell carcinoma(21;0.00156)|Lung(16;0.00487)|KIRC - Kidney renal clear cell carcinoma(39;0.012)|Kidney(39;0.0139) TTTCATATTTGATGGGTTACA 0.433 4 42 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706180 96706180 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:96706180G>A uc010how.1 + 3 500 c.457G>A c.(457-459)GCC>ACC p.A153T EPHA6_uc003drp.1_Missense_Mutation_p.A153T NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 58 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GCAGTGGGATGCCATCACTGA 0.328 25 183 --- --- --- --- PASS ARL6 84100 broad.mit.edu 37 3 97510649 97510649 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:97510649G>T uc003drv.2 + 8 827 c.514G>T c.(514-516)GAA>TAA p.E172* ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Nonsense_Mutation_p.E172*|ARL6_uc010hoy.2_Nonsense_Mutation_p.E172* NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 172 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) AGGCTTGCAAGAAGGTGTAGA 0.299 Bardet-Biedl_syndrome 25 127 --- --- --- --- PASS GABRR3 200959 broad.mit.edu 37 3 97731304 97731304 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:97731304C>T uc011bgr.1 - 4 414 c.414G>A c.(412-414)AAG>AAA p.K138K NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 138 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 GCACCCAGATCTTTCTGGTCA 0.418 30 149 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97888090 97888090 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:97888090C>A uc011bgu.1 + 1 547 c.547C>A c.(547-549)CCA>ACA p.P183T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P183L(1) ovary(1)|skin(1) 2 TGACACTATCCCATTGTCTAA 0.313 12 76 --- --- --- --- PASS OR5K4 403278 broad.mit.edu 37 3 98072901 98072901 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:98072901G>C uc011bgv.1 + 1 204 c.204G>C c.(202-204)CTG>CTC p.L68L NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ACCTGGCTCTGATGGATTCCT 0.433 256 539 --- --- --- --- PASS OR5K2 402135 broad.mit.edu 37 3 98216823 98216823 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:98216823A>G uc011bgx.1 + 1 299 c.299A>G c.(298-300)CAG>CGG p.Q100R NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TGTGCAGTACAGTTTTATTTT 0.468 51 353 --- --- --- --- PASS DCBLD2 131566 broad.mit.edu 37 3 98538068 98538068 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:98538068C>G uc003dtd.2 - 8 1428 c.1065G>C c.(1063-1065)TTG>TTC p.L355F DCBLD2_uc003dte.2_Missense_Mutation_p.L355F NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 355 Extracellular (Potential).|F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 TTTCCTTATTCAAATCTATTT 0.338 8 21 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100413697 100413697 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:100413697C>T uc003duc.2 + 16 2514 c.2246C>T c.(2245-2247)TCA>TTA p.S749L GPR128_uc011bhc.1_Missense_Mutation_p.S450L|GPR128_uc003dud.2_Missense_Mutation_p.S272L NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 749 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TCATTGCCTTCAGTGACGCGG 0.443 42 98 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102175084 102175084 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:102175084G>T uc003dvs.1 + 11 1257 c.375G>T c.(373-375)GTG>GTT p.V125V ZPLD1_uc003dvt.1_Silent_p.V141V|ZPLD1_uc011bhg.1_Silent_p.V125V NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 125 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 CAACTTCAGTGCAAGTAGGAA 0.358 53 240 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105238952 105238952 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:105238952A>G uc003dvx.2 + 2 655 c.115A>G c.(115-117)ATT>GTT p.I39V ALCAM_uc003dvv.2_Missense_Mutation_p.I39V|ALCAM_uc003dvw.1_Missense_Mutation_p.I39V|ALCAM_uc003dvy.2_Missense_Mutation_p.I39V|ALCAM_uc011bhh.1_5'UTR NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 39 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 TGGAGATACCATTATCATACC 0.318 70 152 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108174595 108174595 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:108174595A>T uc003dxa.1 - 21 2367 c.2310T>A c.(2308-2310)TTT>TTA p.F770L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 770 Myosin head-like.|Actin-binding (By similarity). myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TAGTGATTCCAAATCGGTACT 0.418 39 218 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108279531 108279531 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:108279531C>T uc003dxb.3 - 14 2061 c.1792G>A c.(1792-1794)GAA>AAA p.E598K KIAA1524_uc010hpv.1_3'UTR NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 598 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 ATTAATTCTTCAATATTCAAT 0.348 13 399 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049596 109049596 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:109049596C>G uc003dxq.3 - 5 509 c.454G>C c.(454-456)GAA>CAA p.E152Q DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E152Q NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 152 nucleus protein binding upper_aerodigestive_tract(1) 1 TCCCCCTTTTCCACCTTTAAT 0.438 8 194 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111603055 111603055 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:111603055C>T uc010hqa.2 + 2 542 c.131C>T c.(130-132)TCT>TTT p.S44F PHLDB2_uc003dyc.2_Missense_Mutation_p.S71F|PHLDB2_uc003dyd.2_Missense_Mutation_p.S44F|PHLDB2_uc003dyg.2_Missense_Mutation_p.S44F|PHLDB2_uc003dyh.2_Missense_Mutation_p.S44F|PHLDB2_uc003dye.3_Missense_Mutation_p.S44F|PHLDB2_uc003dyf.3_Missense_Mutation_p.S44F NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 44 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AAGAAATACTCTTCCAGTCTG 0.448 47 328 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111603312 111603312 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:111603312C>G uc010hqa.2 + 2 799 c.388C>G c.(388-390)CAT>GAT p.H130D PHLDB2_uc003dyc.2_Missense_Mutation_p.H157D|PHLDB2_uc003dyd.2_Missense_Mutation_p.H130D|PHLDB2_uc003dyg.2_Missense_Mutation_p.H130D|PHLDB2_uc003dyh.2_Missense_Mutation_p.H130D|PHLDB2_uc003dye.3_Missense_Mutation_p.H130D|PHLDB2_uc003dyf.3_Missense_Mutation_p.H130D NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 130 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGACTTTGATCATTATACTGG 0.443 61 498 --- --- --- --- PASS GCET2 257144 broad.mit.edu 37 3 111842400 111842400 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:111842400C>T uc003dys.1 - 6 589 c.439G>A c.(439-441)GAA>AAA p.E147K C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Missense_Mutation_p.E81K NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 147 mitochondrion 0 AGTTCATATTCATCTTCTGGG 0.418 12 265 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113138899 113138899 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:113138899G>A uc003eae.1 - 5 581 c.535C>T c.(535-537)CGA>TGA p.R179* NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 179 central_nervous_system(1) 1 CTGCTACTTCGCAGGTAGATC 0.433 56 94 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113563411 113563411 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:113563411C>G uc003eaq.3 + 2 165 c.89C>G c.(88-90)CCT>CGT p.P30R GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 30 integral to membrane ovary(2)|skin(1) 3 GAGGAAAATCCTAGTCCAACT 0.373 26 241 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113664295 113664295 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:113664295G>A uc003eaq.3 + 18 2035 c.1959G>A c.(1957-1959)AAG>AAA p.K653K GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.K486K|GRAMD1C_uc003eas.2_Silent_p.K448K|GRAMD1C_uc003eat.2_Silent_p.K312K|ZDHHC23_uc003eau.2_5'Flank|ZDHHC23_uc003eav.2_5'Flank NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 653 integral to membrane ovary(2)|skin(1) 3 TACTAAATAAGAATAAGACTG 0.338 17 121 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113720457 113720457 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:113720457C>G uc003eax.2 - 13 2295 c.2148G>C c.(2146-2148)AAG>AAC p.K716N KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 716 Potential. ovary(2) 2 TCTTCAGTCTCTTCTCTTCTC 0.453 48 224 --- --- --- --- PASS GPR156 165829 broad.mit.edu 37 3 119886737 119886737 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:119886737C>G uc011bjf.1 - 9 1587 c.1587G>C c.(1585-1587)GAG>GAC p.E529D GPR156_uc011bjg.1_Missense_Mutation_p.E525D NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 529 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) CCTCTGAGTTCTCCAGATGCC 0.582 80 264 --- --- --- --- PASS HGD 3081 broad.mit.edu 37 3 120347245 120347245 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:120347245G>T uc003edw.2 - 14 1690 c.1320C>A c.(1318-1320)AAC>AAA p.N440K HGD_uc003edv.2_Missense_Mutation_p.N299K NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 440 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) GTTCTGCTGGGTTCCTGGAGT 0.468 51 296 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 122003739 122003739 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:122003739G>C uc003eev.3 + 7 3310 c.2938G>C c.(2938-2940)GAT>CAT p.D980H CASR_uc003eew.3_Missense_Mutation_p.D990H NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 980 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACTGAGCTTTGATGAGCCTCA 0.582 3 82 --- --- --- --- PASS FAM162A 26355 broad.mit.edu 37 3 122126180 122126180 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:122126180C>G uc003eez.2 + 4 406 c.316C>G c.(316-318)CTA>GTA p.L106V FAM162A_uc011bjq.1_Missense_Mutation_p.L106V NM_014367 NP_055182 Q96A26 F162A_HUMAN growth and transformation-dependent protein 106 Helical; (Potential). integral to membrane ovary(1) 1 GATCAGCTATCTAATGATTGC 0.418 29 159 --- --- --- --- PASS DIRC2 84925 broad.mit.edu 37 3 122545861 122545861 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:122545861G>C uc003efw.3 + 3 791 c.652G>C c.(652-654)GAG>CAG p.E218Q DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.E56Q NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 218 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TCTTGCTGCAGAGAGCAGCAG 0.408 97 165 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123420317 123420317 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:123420317C>A uc003ego.2 - 17 2712 c.2430G>T c.(2428-2430)ATG>ATT p.M810I MYLK_uc011bjw.1_Missense_Mutation_p.M810I|MYLK_uc003egp.2_Missense_Mutation_p.M741I|MYLK_uc003egq.2_Missense_Mutation_p.M810I|MYLK_uc003egr.2_Missense_Mutation_p.M741I|MYLK_uc003egs.2_Missense_Mutation_p.M634I|MYLK_uc003egt.2_Missense_Mutation_p.M1I NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 810 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGTTCTGTAGCATCAGTGACA 0.597 21 121 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124281801 124281801 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:124281801G>T uc003ehg.2 + 34 5168 c.5041G>T c.(5041-5043)GAG>TAG p.E1681* KALRN_uc003ehi.2_Nonsense_Mutation_p.E54* NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1681 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCGGCCCAGCGAGCGGCCTGG 0.657 8 57 --- --- --- --- PASS C3orf27 23434 broad.mit.edu 37 3 128292467 128292467 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:128292467G>A uc003ekq.2 - 3 1073 c.106C>T c.(106-108)CAG>TAG p.Q36* NM_007354 NP_031380 O15544 GR6_HUMAN putative GR6 protein 36 0 GBM - Glioblastoma multiforme(114;0.176) CCTAGGGGCTGAGAGTCTGGG 0.642 5 95 --- --- --- --- PASS ACAD9 28976 broad.mit.edu 37 3 128631375 128631375 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:128631375G>C uc003ela.3 + 18 1993 c.1791G>C c.(1789-1791)CAG>CAC p.Q597H KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.Q474H|ACAD9_uc003elb.2_Missense_Mutation_p.Q474H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.Q249H|uc003elf.1_Intron NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 597 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 TAGATGAGCAGATTAAGAAAG 0.522 28 93 --- --- --- --- PASS KIAA1257 57501 broad.mit.edu 37 3 128706490 128706490 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:128706490G>T uc003elj.3 - 4 832 c.636C>A c.(634-636)TTC>TTA p.F212L KIAA1257_uc003elg.1_Missense_Mutation_p.F212L|KIAA1257_uc003eli.3_Missense_Mutation_p.F100L NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 212 0 CGTCGTCTGTGAAGCCGGCAG 0.408 9 176 --- --- --- --- PASS MBD4 8930 broad.mit.edu 37 3 129152001 129152001 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:129152001C>G uc003emh.1 - 6 1677 c.1501G>C c.(1501-1503)GAA>CAA p.E501Q MBD4_uc003emi.1_Missense_Mutation_p.E501Q|MBD4_uc003emj.1_Missense_Mutation_p.E495Q|MBD4_uc003emk.1_Missense_Mutation_p.E183Q|MBD4_uc011bkw.1_Missense_Mutation_p.E501Q NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 501 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 TTAAGAAGTTCTGACACATCT 0.423 BER_DNA_glycosylases 13 236 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130305487 130305487 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:130305487C>T uc010htl.2 + 10 4139 c.4108C>T c.(4108-4110)CGG>TGG p.R1370W COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1370 VWFA 7.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ACTTGGAAGCCGGCTGTCAAA 0.368 39 96 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130340679 130340679 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:130340679C>T uc010htl.2 + 23 4861 c.4830C>T c.(4828-4830)CCC>CCT p.P1610P COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1610 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CTCCAGGACCCGGAGGAGAGG 0.433 23 95 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130435332 130435332 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:130435332T>A uc003enj.2 - 9 2820 c.2239A>T c.(2239-2241)ATG>TTG p.M747L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 747 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTCTGACGCATGTGAAGATGT 0.433 31 157 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132175390 132175390 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:132175390C>T uc003eor.2 + 11 1210 c.1145C>T c.(1144-1146)TCA>TTA p.S382L DNAJC13_uc010htq.1_Missense_Mutation_p.S382L|DNAJC13_uc003eos.1_Missense_Mutation_p.S49L NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 382 heat shock protein binding ovary(1)|breast(1) 2 GCTAATATTTCATACAGTGGA 0.308 17 142 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132257044 132257044 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:132257044C>T uc003eor.2 + 56 6715 c.6650C>T c.(6649-6651)ACC>ATC p.T2217I NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2217 heat shock protein binding ovary(1)|breast(1) 2 GGCTACCTTACCGCAGGTACA 0.453 6 77 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132423047 132423047 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:132423047C>G uc003epe.1 - 9 1596 c.1519G>C c.(1519-1521)GAG>CAG p.E507Q NPHP3_uc003epf.1_Missense_Mutation_p.E262Q NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 507 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CTTACTTTCTCAAATCCCAAC 0.353 54 273 --- --- --- --- PASS KY 339855 broad.mit.edu 37 3 134362194 134362194 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:134362194G>A uc010hty.2 - 3 288 c.226C>T c.(226-228)CAG>TAG p.Q76* KY_uc011blw.1_Nonsense_Mutation_p.Q76*|KY_uc011blx.1_Intron|KY_uc003eqs.1_Intron NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 76 cytoskeleton|Z disc peptidase activity ovary(2) 2 TGGGGCTGCTGAGGGTGCTGC 0.552 20 53 --- --- --- --- PASS ACPL2 92370 broad.mit.edu 37 3 140997235 140997235 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:140997235G>A uc003etu.2 + 5 430 c.131G>A c.(130-132)CGA>CAA p.R44Q ACPL2_uc003etv.2_Missense_Mutation_p.R44Q|ACPL2_uc011bna.1_Missense_Mutation_p.R6Q|ACPL2_uc011bnb.1_Missense_Mutation_p.R27Q NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 44 extracellular region acid phosphatase activity skin(1) 1 AGCAAGAGTCGAAAGAGAATC 0.567 27 101 --- --- --- --- PASS RASA2 5922 broad.mit.edu 37 3 141290324 141290324 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:141290324G>T uc003etz.1 + 11 1097 c.1097G>T c.(1096-1098)CGA>CTA p.R366L RASA2_uc010huq.1_Missense_Mutation_p.R366L|RASA2_uc003eua.1_Missense_Mutation_p.R366L|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 366 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 CCCCTTGTACGACTGCTGCTG 0.368 149 302 --- --- --- --- PASS SR140 23350 broad.mit.edu 37 3 142741338 142741338 + Splice_Site SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:142741338G>C uc003evh.1 + 11 952 c.853_splice c.e11-1 p.M285_splice SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.M285_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.M284_splice NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein RNA processing nucleus nucleotide binding|RNA binding 0 CTTTTTAATAGATGAATGAAG 0.318 25 154 --- --- --- --- PASS HLTF 6596 broad.mit.edu 37 3 148786065 148786065 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:148786065G>C uc003ewq.1 - 8 1170 c.952C>G c.(952-954)CTT>GTT p.L318V HLTF_uc003ewr.1_Missense_Mutation_p.L318V|HLTF_uc003ews.1_Missense_Mutation_p.L318V|HLTF_uc010hve.1_Missense_Mutation_p.L318V NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 318 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCAATAGGAAGAGGTCTGCCA 0.338 27 396 --- --- --- --- PASS TMEM14E 645843 broad.mit.edu 37 3 152058442 152058442 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:152058442G>C uc010hvo.2 - 1 338 c.252C>G c.(250-252)CTC>CTG p.L84L MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron NM_001123228 NP_001116700 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 84 Helical; (Potential). integral to membrane 0 AAATGTTCCAGAGTGTTAGAA 0.428 22 111 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154858076 154858076 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:154858076G>T uc010hvr.1 + 10 1163 c.952G>T c.(952-954)GGG>TGG p.G318W MME_uc003fab.1_Missense_Mutation_p.G318W|MME_uc003fac.1_Missense_Mutation_p.G318W|MME_uc003fad.1_Missense_Mutation_p.G318W|MME_uc003fae.1_Missense_Mutation_p.G318W NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 318 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) AGAGATCAATGGGAAGGTAAG 0.333 4 109 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160150074 160150074 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:160150074G>T uc003fdh.2 + 22 3414 c.3301G>T c.(3301-3303)GAA>TAA p.E1101* IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Nonsense_Mutation_p.E1076*|SMC4_uc003fdj.2_Nonsense_Mutation_p.E1101*|SMC4_uc010hwd.2_Nonsense_Mutation_p.E1043*|SMC4_uc003fdl.2_Nonsense_Mutation_p.E804* NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1101 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTCACAGGAAGAATTGTATTT 0.269 7 198 --- --- --- --- PASS PPM1L 151742 broad.mit.edu 37 3 160783332 160783332 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:160783332G>C uc003fdr.2 + 3 817 c.716G>C c.(715-717)AGA>ACA p.R239T PPM1L_uc003fds.2_Missense_Mutation_p.R60T|PPM1L_uc003fdt.2_Missense_Mutation_p.R112T|PPM1L_uc010hwf.2_RNA NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 239 Cytoplasmic (Potential).|PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTGAAGGAAAGAAAGAGGATA 0.507 14 205 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164754253 164754253 + Silent SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:164754253A>T uc003fei.2 - 22 2501 c.2439T>A c.(2437-2439)CCT>CCA p.P813P NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 813 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGTCCTAGAGGATTCTTAC 0.348 HNSCC(35;0.089) 61 261 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164755796 164755796 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:164755796C>T uc003fei.2 - 21 2380 c.2318G>A c.(2317-2319)TGG>TAG p.W773* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 773 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTTTCCTCCATGGCCTTTT 0.323 HNSCC(35;0.089) 94 162 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907126 164907126 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:164907126G>C uc003fej.3 - 2 1937 c.1493C>G c.(1492-1494)GCA>GGA p.A498G SLITRK3_uc003fek.2_Missense_Mutation_p.A498G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 498 LRR 10.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCTGAAGGCTGCAGGCTGGAT 0.512 HNSCC(40;0.11) 4 189 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907647 164907647 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:164907647G>A uc003fej.3 - 2 1416 c.972C>T c.(970-972)GTC>GTT p.V324V SLITRK3_uc003fek.2_Silent_p.V324V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 324 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACTTGTATTCGACAGAAGAAG 0.468 HNSCC(40;0.11) 18 674 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165548367 165548367 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:165548367G>A uc003fem.3 - 2 615 c.455C>T c.(454-456)TCT>TTT p.S152F BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 152 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AACATGTAAAGATGATGTTCC 0.388 18 276 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 166960328 166960328 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:166960328T>C uc003fep.2 - 20 2564 c.2241A>G c.(2239-2241)TCA>TCG p.S747S ZBBX_uc011bpc.1_Silent_p.S786S|ZBBX_uc003feq.2_Silent_p.S718S NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 747 intracellular zinc ion binding ovary(2) 2 CCCTCACATGTGAGGTCTTAA 0.383 110 138 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168845735 168845735 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:168845735C>T uc003ffi.3 - 4 432 c.163G>A c.(163-165)GAA>AAA p.E55K MECOM_uc010hwk.1_Missense_Mutation_p.E78K|MECOM_uc003ffj.3_Missense_Mutation_p.E119K|MECOM_uc011bpi.1_Missense_Mutation_p.E55K|MECOM_uc003ffn.3_Missense_Mutation_p.E55K|MECOM_uc003ffk.2_Missense_Mutation_p.E55K|MECOM_uc003ffl.2_Missense_Mutation_p.E215K|MECOM_uc011bpj.1_Missense_Mutation_p.E243K|MECOM_uc011bpk.1_Missense_Mutation_p.E45K|MECOM_uc010hwn.2_Missense_Mutation_p.E243K|MECOM_uc003ffm.1_Missense_Mutation_p.E119K NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 55 Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AAGTCCTCTTCAACCATTGAA 0.438 135 573 --- --- --- --- PASS TERC 7012 broad.mit.edu 37 3 169482437 169482437 + RNA SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:169482437C>T uc003ffr.1 - 1 c.412G>A NR_001566 Homo sapiens cDNA clone IMAGE:40002477. 0 TCCCACAGCTCAGGGAATCGC 0.687 Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 5 95 --- --- --- --- PASS SAMD7 344658 broad.mit.edu 37 3 169644372 169644372 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:169644372C>G uc003fgd.2 + 6 589 c.322C>G c.(322-324)CAA>GAA p.Q108E SAMD7_uc003fge.2_Missense_Mutation_p.Q108E|SAMD7_uc011bpo.1_Missense_Mutation_p.Q9E NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 108 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TATTTACCAGCAAAGGAGAAT 0.418 82 141 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 169998155 169998155 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:169998155G>C uc003fgs.2 + 9 1084 c.846G>C c.(844-846)ATG>ATC p.M282I NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 282 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTTATGCAATGAAAGTTGTGA 0.313 9 246 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170201274 170201274 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:170201274G>T uc003fgz.2 - 6 1260 c.944C>A c.(943-945)ACC>AAC p.T315N CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 315 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CGTGTCAATGGTATAATATGG 0.502 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 442 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171321035 171321035 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:171321035T>C uc003fhs.2 - 27 3174 c.3058A>G c.(3058-3060)ATA>GTA p.I1020V PLD1_uc003fht.2_Missense_Mutation_p.I982V NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 1020 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GGCTTGTTTATAAAGTCTCTC 0.383 4 246 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171394572 171394572 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:171394572G>A uc003fhs.2 - 18 2164 c.2048C>T c.(2047-2049)TCT>TTT p.S683F PLD1_uc003fht.2_Missense_Mutation_p.S645F|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.S8F NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 683 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGGACTGCAGAGGCAATGTC 0.532 18 142 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171442514 171442514 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:171442514C>T uc003fhs.2 - 8 846 c.730G>A c.(730-732)GGA>AGA p.G244R PLD1_uc003fht.2_Missense_Mutation_p.G244R NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 244 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CAGGCTCTTCCCTGACCACAG 0.388 23 454 --- --- --- --- PASS NCEH1 57552 broad.mit.edu 37 3 172353864 172353864 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:172353864G>T uc011bpx.1 - 4 709 c.571C>A c.(571-573)CCA>ACA p.P191T NCEH1_uc003fig.2_Missense_Mutation_p.P183T|NCEH1_uc011bpw.1_Missense_Mutation_p.P18T|NCEH1_uc011bpy.1_Missense_Mutation_p.P18T NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 151 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 TAAACCTTTGGAACTAGCCTG 0.368 10 327 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173996659 173996659 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:173996659C>G uc003fio.1 + 6 1291 c.868C>G c.(868-870)CAA>GAA p.Q290E NLGN1_uc010hww.1_Missense_Mutation_p.Q330E|NLGN1_uc003fip.1_Missense_Mutation_p.Q290E NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 307 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGGACTTTTTCAACGAGCAAT 0.353 6 221 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179047452 179047452 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:179047452C>G uc003fjq.1 + 4 448 c.105C>G c.(103-105)TTC>TTG p.F35L ZNF639_uc003fjr.1_Missense_Mutation_p.F35L NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 35 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATGGAATTTTCTCTGATCATT 0.279 7 636 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179537697 179537697 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:179537697G>C uc003fki.1 - 9 1020 c.890C>G c.(889-891)TCT>TGT p.S297C PEX5L_uc011bqd.1_Missense_Mutation_p.S254C|PEX5L_uc011bqe.1_Missense_Mutation_p.S105C|PEX5L_uc011bqf.1_Missense_Mutation_p.S189C|PEX5L_uc003fkj.1_Missense_Mutation_p.S262C|PEX5L_uc010hxd.1_Missense_Mutation_p.S295C|PEX5L_uc011bqg.1_Missense_Mutation_p.S273C|PEX5L_uc011bqh.1_Missense_Mutation_p.S238C NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 297 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTGGTTCTCAGATATCCAGTT 0.438 39 337 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180327971 180327971 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:180327971G>C uc003fkk.2 + 12 2086 c.1954G>C c.(1954-1956)GAG>CAG p.E652Q TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 652 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAGGATATAGAGGGAAGAAA 0.393 5 298 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183013168 183013168 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:183013168C>G uc003fli.1 - 13 1685 c.1595G>C c.(1594-1596)CGT>CCT p.R532P MCF2L2_uc003flj.1_Missense_Mutation_p.R532P|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 532 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTGCACTGGACGAGTCTGTTT 0.498 19 225 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183446552 183446552 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:183446552G>A uc003fly.2 + 7 920 c.725G>A c.(724-726)CGT>CAT p.R242H NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 242 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGAGGGTCCCGTAGAGAACCC 0.418 6 315 --- --- --- --- PASS HTR3D 200909 broad.mit.edu 37 3 183756706 183756706 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:183756706C>G uc011bqv.1 + 8 1308 c.1308C>G c.(1306-1308)CTC>CTG p.L436L HTR3D_uc003fmj.2_Silent_p.L261L|HTR3D_uc011bqu.1_Silent_p.L386L|HTR3D_uc010hxp.2_Silent_p.L215L NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 436 Helical; Name=4; (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTTCCGCCTCTACCTGCTCT 0.587 27 373 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184008857 184008857 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184008857C>T uc003fni.3 + 17 2256 c.2218C>T c.(2218-2220)CGG>TGG p.R740W ECE2_uc011brh.1_Missense_Mutation_p.R593W|ECE2_uc003fnl.3_Missense_Mutation_p.R668W|ECE2_uc003fnm.3_Missense_Mutation_p.R622W|ECE2_uc003fnk.3_Missense_Mutation_p.R593W|ECE2_uc011bri.1_Missense_Mutation_p.R655W|ECE2_uc010hxv.2_3'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 740 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGGAACCTGCGGCCCTGGTG 0.587 114 204 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184009925 184009925 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184009925C>T uc003fni.3 + 19 2589 c.2551C>T c.(2551-2553)CGC>TGC p.R851C ECE2_uc003fnl.3_Missense_Mutation_p.R779C|ECE2_uc003fnm.3_Missense_Mutation_p.R733C|ECE2_uc003fnk.3_Missense_Mutation_p.R704C NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 851 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCCCGCTTCCGCGTGCTGGG 0.677 13 267 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184042076 184042076 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184042076G>C uc003fnp.2 + 17 2758 c.2560G>C c.(2560-2562)GAC>CAC p.D854H EIF4G1_uc003fno.1_Missense_Mutation_p.D795H|EIF4G1_uc010hxw.1_Missense_Mutation_p.D690H|EIF4G1_uc003fnt.2_Missense_Mutation_p.D565H|EIF4G1_uc003fnq.2_Missense_Mutation_p.D767H|EIF4G1_uc003fnr.2_Missense_Mutation_p.D690H|EIF4G1_uc010hxx.2_Missense_Mutation_p.D861H|EIF4G1_uc003fns.2_Missense_Mutation_p.D814H|EIF4G1_uc010hxy.2_Missense_Mutation_p.D861H|EIF4G1_uc003fnv.3_Missense_Mutation_p.D855H|EIF4G1_uc003fnu.3_Missense_Mutation_p.D854H|EIF4G1_uc003fnw.2_Missense_Mutation_p.D861H|EIF4G1_uc003fnx.2_Missense_Mutation_p.D659H|EIF4G1_uc003fny.3_Missense_Mutation_p.D658H|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 854 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTTTGAGAAAGACAAAGATGA 0.443 14 299 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184045480 184045480 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184045480C>A uc003fnp.2 + 25 3966 c.3768C>A c.(3766-3768)CTC>CTA p.L1256L EIF4G1_uc003fnt.2_Silent_p.L967L|EIF4G1_uc003fnq.2_Silent_p.L1169L|EIF4G1_uc003fnr.2_Silent_p.L1092L|EIF4G1_uc010hxx.2_Silent_p.L1263L|EIF4G1_uc003fns.2_Silent_p.L1216L|EIF4G1_uc010hxy.2_Silent_p.L1263L|EIF4G1_uc003fnv.3_Silent_p.L1257L|EIF4G1_uc003fnu.3_Silent_p.L1256L|EIF4G1_uc003fnw.2_Silent_p.L1263L|EIF4G1_uc003fnx.2_Silent_p.L1061L|EIF4G1_uc003fny.3_Silent_p.L1060L|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1256 MI. 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) ATCTCCATCTCAATGACATGA 0.567 20 244 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184587302 184587302 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184587302A>G uc003fpb.1 + 19 1795 c.1624A>G c.(1624-1626)ATT>GTT p.I542V VPS8_uc010hyd.1_Missense_Mutation_p.I542V NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 544 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GCGAAAGGCTATTGTTGCAGA 0.393 78 134 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184648317 184648317 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184648317G>A uc003fpb.1 + 33 3024 c.2853G>A c.(2851-2853)GAG>GAA p.E951E VPS8_uc010hyd.1_Silent_p.E861E|VPS8_uc010hye.1_Silent_p.E380E NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 953 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GTGCAGAGGAGAAGCAGTCTG 0.388 5 360 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184714182 184714182 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:184714182G>C uc003fpb.1 + 43 3894 c.3723G>C c.(3721-3723)CTG>CTC p.L1241L VPS8_uc010hyd.1_Silent_p.L1151L|VPS8_uc010hye.1_Silent_p.L670L NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1243 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGTGTAACCTGAGAGCTTCGG 0.413 16 165 --- --- --- --- PASS ETV5 2119 broad.mit.edu 37 3 185766536 185766536 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:185766536G>A uc003fpz.2 - 13 1672 c.1425C>T c.(1423-1425)CTC>CTT p.L475L ETV5_uc003fpy.2_Silent_p.L517L NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 475 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CCTCCTCGCTGAGGTGGCACT 0.587 T TMPRSS2|SCL45A3 Prostate 10 139 --- --- --- --- PASS HRG 3273 broad.mit.edu 37 3 186395356 186395356 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:186395356C>G uc003fqq.2 + 7 1285 c.1262C>G c.(1261-1263)CCC>CGC p.P421R NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 421 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GACCCACCACCCCATAACCAA 0.383 7 84 --- --- --- --- PASS HRG 3273 broad.mit.edu 37 3 186395357 186395357 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:186395357C>A uc003fqq.2 + 7 1286 c.1263C>A c.(1261-1263)CCC>CCA p.P421P NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 421 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCCACCACCCCATAACCAAG 0.383 6 84 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186435490 186435490 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:186435490G>C uc011bsa.1 + 1 371 c.159G>C c.(157-159)CAG>CAC p.Q53H KNG1_uc003fqr.2_Missense_Mutation_p.Q53H NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 53 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GTAACAACCAGTTTGTATTGT 0.403 21 203 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186442879 186442879 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:186442879G>A uc011bsa.1 + 4 606 c.394G>A c.(394-396)GAG>AAG p.E132K KNG1_uc003fqr.2_Missense_Mutation_p.E132K NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 132 Cystatin 1.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TTGTTAAGCCGAGGGCCCTGT 0.458 16 129 --- --- --- --- PASS RTP2 344892 broad.mit.edu 37 3 187419846 187419846 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:187419846G>T uc003fro.1 - 1 500 c.71C>A c.(70-72)GCG>GAG p.A24E NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 24 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCAGCTGTCCGCTGGCTTTGC 0.582 59 558 --- --- --- --- PASS BCL6 604 broad.mit.edu 37 3 187447462 187447462 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:187447462C>A uc003frp.3 - 5 1188 c.731G>T c.(730-732)CGG>CTG p.R244L BCL6_uc011bsf.1_Missense_Mutation_p.R244L|BCL6_uc010hza.2_Missense_Mutation_p.R142L|BCL6_uc003frq.1_Missense_Mutation_p.R244L NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 244 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) CAAAGTCGGCCGGCTGTACTC 0.567 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 22 90 --- --- --- --- PASS TPRG1 285386 broad.mit.edu 37 3 189038526 189038526 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:189038526G>C uc003frv.1 + 11 1972 c.745G>C c.(745-747)GAG>CAG p.E249Q TPRG1_uc003frw.1_Missense_Mutation_p.E249Q NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 249 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CATTTTGATTGAGACCTACAC 0.438 7 227 --- --- --- --- PASS GP5 2814 broad.mit.edu 37 3 194118280 194118280 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:194118280G>A uc003ftv.1 - 2 763 c.732C>T c.(730-732)CTC>CTT p.L244L NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 244 Extracellular (Potential).|LRR 8. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TCAAAGAACTGAGGTTTGGGA 0.577 62 419 --- --- --- --- PASS C3orf21 152002 broad.mit.edu 37 3 194991428 194991428 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:194991428G>A uc003fum.3 - 1 468 c.360C>T c.(358-360)GTC>GTT p.V120V NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 120 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) AGCGCAGCGCGACGCGGGCCT 0.682 7 49 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195489005 195489005 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:195489005G>T uc011bto.1 - 15 14541 c.14081C>A c.(14080-14082)TCC>TAC p.S4694Y MUC4_uc003fuz.2_Missense_Mutation_p.S420Y|MUC4_uc003fva.2_Missense_Mutation_p.S302Y|MUC4_uc003fvb.2_Missense_Mutation_p.S338Y|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S338Y|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S302Y|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S386Y|MUC4_uc011bti.1_Missense_Mutation_p.S386Y|MUC4_uc011btj.1_Missense_Mutation_p.S563Y|MUC4_uc011btk.1_Missense_Mutation_p.S302Y|MUC4_uc011btl.1_Missense_Mutation_p.S331Y|MUC4_uc011btm.1_Missense_Mutation_p.S511Y|MUC4_uc011btn.1_Missense_Mutation_p.S302Y|MUC4_uc003fvo.2_Missense_Mutation_p.S586Y|MUC4_uc003fvp.2_Missense_Mutation_p.S535Y NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1579 VWFD. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGCTGGCGGAGGCGTGGAG 0.711 4 22 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195516771 195516771 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:195516771C>A uc011bto.1 - 2 2140 c.1680G>T c.(1678-1680)GGG>GGT p.G560G MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.G442G NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 565 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGCGCCTGCCCCTGTTGTTT 0.547 101 616 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196778475 196778475 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr3:196778475C>G uc003fxo.3 - 25 2771 c.2581G>C c.(2581-2583)GAA>CAA p.E861Q DLG1_uc011bub.1_Missense_Mutation_p.E757Q|DLG1_uc011buc.1_Missense_Mutation_p.E745Q|DLG1_uc011bud.1_Missense_Mutation_p.E544Q|DLG1_uc003fxn.3_Missense_Mutation_p.E883Q|DLG1_uc011bue.1_Missense_Mutation_p.E849Q|DLG1_uc010ial.2_Missense_Mutation_p.E861Q NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 861 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) AACTCCTGTTCCAGTTTCATG 0.378 5 271 --- --- --- --- PASS ACOX3 8310 broad.mit.edu 37 4 8394128 8394128 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:8394128G>C uc010idk.2 - 11 1377 c.1232C>G c.(1231-1233)GCC>GGC p.A411G ACOX3_uc003glc.3_Missense_Mutation_p.A411G|ACOX3_uc003gld.3_Missense_Mutation_p.A411G|ACOX3_uc003gle.1_Missense_Mutation_p.A316G NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 411 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GGTCCACGAGGCCAGGGGCTT 0.572 17 381 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36093524 36093524 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:36093524G>A uc003gsq.1 - 28 4742 c.4404C>T c.(4402-4404)CTC>CTT p.L1468L NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1468 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGTAAAGAAAGAGAAACCCAT 0.333 7 123 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38138813 38138813 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:38138813G>T uc003gtb.2 + 20 3707 c.3364G>T c.(3364-3366)GAG>TAG p.E1122* TBC1D1_uc011byd.1_Nonsense_Mutation_p.E1113*|TBC1D1_uc010ifd.2_Nonsense_Mutation_p.E909*|TBC1D1_uc003gtd.2_Nonsense_Mutation_p.E134* NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 1122 nucleus Rab GTPase activator activity ovary(1) 1 CCTGAGCAGTGAGAGCAAGCT 0.557 35 76 --- --- --- --- PASS FAM114A1 92689 broad.mit.edu 37 4 38907184 38907184 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:38907184C>G uc003gtn.2 + 5 654 c.478C>G c.(478-480)CTA>GTA p.L160V FAM114A1_uc011byh.1_5'UTR NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 160 cytoplasm ovary(1) 1 AGGAGCCACTCTACGGATTCA 0.443 68 72 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46388187 46388187 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:46388187G>T uc003gxc.3 - 2 764 c.91C>A c.(91-93)CAA>AAA p.Q31K GABRA2_uc010igc.2_Missense_Mutation_p.Q31K|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Missense_Mutation_p.Q31K|GABRA2_uc010igd.1_Missense_Mutation_p.Q31K NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 31 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCATCTTCTTGGATGTTAGCC 0.358 15 74 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48559526 48559526 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:48559526C>G uc003gyh.1 - 34 4674 c.4069G>C c.(4069-4071)GGA>CGA p.G1357R FRYL_uc003gyk.2_Missense_Mutation_p.G1357R|FRYL_uc003gyg.1_Missense_Mutation_p.G53R|FRYL_uc003gyi.1_Missense_Mutation_p.G246R NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1357 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TGTGGAGATCCCCATCCTTCT 0.418 23 120 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52861814 52861814 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:52861814G>C uc003gzi.2 - 4 1387 c.1374C>G c.(1372-1374)TTC>TTG p.F458L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 458 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTGTCACCCAGAAAGGGGTCT 0.562 22 97 --- --- --- --- PASS USP46 64854 broad.mit.edu 37 4 53497298 53497298 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:53497298G>C uc003gzn.2 - 2 235 c.50C>G c.(49-51)TCT>TGT p.S17C USP46_uc003gzm.3_Missense_Mutation_p.S10C|USP46_uc011bzr.1_Missense_Mutation_p.S6C|USP46_uc011bzs.1_5'UTR NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 17 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TTCCAGAGCAGAGGCATTGGT 0.328 3 9 --- --- --- --- PASS SCFD2 152579 broad.mit.edu 37 4 53751992 53751992 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:53751992G>C uc003gzu.2 - 8 2018 c.1884C>G c.(1882-1884)CTC>CTG p.L628L SCFD2_uc010igm.2_Silent_p.L583L NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 628 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTACCACAAAGAGGATCAGGA 0.512 13 75 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56744156 56744156 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:56744156G>C uc003hbe.1 + 9 1306 c.1148G>C c.(1147-1149)AGA>ACA p.R383T EXOC1_uc003hbf.1_Missense_Mutation_p.R383T|EXOC1_uc003hbg.1_Missense_Mutation_p.R383T NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 383 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) CCATTTCATAGAGATTTGCTC 0.378 29 132 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56886933 56886933 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:56886933G>A uc003hbi.2 + 24 3541 c.3307G>A c.(3307-3309)GAA>AAA p.E1103K CEP135_uc003hbj.2_Missense_Mutation_p.E809K NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 1103 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GATCTCAACTGAAAGATACGA 0.333 50 185 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57244467 57244467 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:57244467G>C uc003hbn.2 - 4 668 c.515C>G c.(514-516)TCT>TGT p.S172C AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S19C|AASDH_uc003hbo.2_Missense_Mutation_p.S72C|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.S172C|AASDH_uc003hbp.2_Missense_Mutation_p.S172C NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 172 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GACATGCTCAGAACTTATGCT 0.373 22 111 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62812641 62812641 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:62812641G>A uc010ihh.2 + 13 2398 c.2225G>A c.(2224-2226)AGA>AAA p.R742K LPHN3_uc003hcq.3_Missense_Mutation_p.R742K|LPHN3_uc003hct.2_Missense_Mutation_p.R135K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 729 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GGAGAGATCAGAGTGGCCTTT 0.363 7 331 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66213904 66213904 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:66213904G>C uc003hcy.2 - 15 2719 c.2526C>G c.(2524-2526)ATC>ATG p.I842M EPHA5_uc003hcx.2_Missense_Mutation_p.I774M|EPHA5_uc003hcz.2_Missense_Mutation_p.I820M|EPHA5_uc011cah.1_Missense_Mutation_p.I843M|EPHA5_uc011cai.1_Missense_Mutation_p.I821M|EPHA5_uc003hda.2_Missense_Mutation_p.I843M NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 842 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CAGTCCATCTGATTGGAATTT 0.393 TSP Lung(17;0.13) 32 131 --- --- --- --- PASS UBA6 55236 broad.mit.edu 37 4 68527924 68527924 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:68527924C>A uc003hdg.3 - 13 1139 c.1087G>T c.(1087-1089)GAA>TAA p.E363* UBA6_uc003hdi.2_Nonsense_Mutation_p.E363* NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 363 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TCCAAGGTTTCACTTATAGAT 0.323 25 117 --- --- --- --- PASS UBA6 55236 broad.mit.edu 37 4 68544165 68544165 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:68544165C>G uc003hdg.3 - 5 397 c.345G>C c.(343-345)AAG>AAC p.K115N UBA6_uc003hdi.2_Missense_Mutation_p.K115N|UBA6_uc003hdj.2_Missense_Mutation_p.K115N NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 115 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 ACCTGTTTCTCTTATTAACAA 0.284 15 111 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70350951 70350951 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:70350951G>T uc003hek.3 - 5 1332 c.1285C>A c.(1285-1287)CTG>ATG p.L429M UGT2B4_uc011cap.1_Missense_Mutation_p.L293M|UGT2B4_uc003hel.3_Intron NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 429 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ACTGTCTTCAGTGCATTGAGT 0.388 18 251 --- --- --- --- PASS SULT1B1 27284 broad.mit.edu 37 4 70620842 70620842 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:70620842C>T uc003hen.2 - 2 392 c.94G>A c.(94-96)GAA>AAA p.E32K NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 32 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 TGGAACTGTTCAATTTTTTCC 0.403 7 306 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73178122 73178122 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:73178122C>T uc003hgk.1 - 13 1844 c.1807G>A c.(1807-1809)GAA>AAA p.E603K ADAMTS3_uc003hgl.2_5'Flank NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 603 TSP type-1 1. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGCATTCTTCTGTGTTACAA 0.428 24 127 --- --- --- --- PASS NAAA 27163 broad.mit.edu 37 4 76857356 76857356 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:76857356C>G uc003hjb.2 - 3 468 c.404G>C c.(403-405)AGA>ACA p.R135T NAAA_uc003hja.2_Missense_Mutation_p.R135T|NAAA_uc003hjc.3_Missense_Mutation_p.R135T|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R34T|NAAA_uc010iiz.1_Missense_Mutation_p.R135T NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 135 lipid metabolic process lysosome hydrolase activity skin(1) 1 AATGTGGCCTCTGGAGTCTTG 0.393 8 242 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79188522 79188522 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:79188522G>A uc003hlb.2 + 9 1357 c.917G>A c.(916-918)TGC>TAC p.C306Y FRAS1_uc003hkw.2_Missense_Mutation_p.C306Y|FRAS1_uc003hky.1_Missense_Mutation_p.C10Y|FRAS1_uc003hkz.2_Missense_Mutation_p.C10Y NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 306 VWFC 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTGAGTTCTGCATGTGTGAT 0.552 8 32 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79366783 79366783 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:79366783G>C uc003hlb.2 + 42 6213 c.5773G>C c.(5773-5775)GAG>CAG p.E1925Q FRAS1_uc003hkw.2_Missense_Mutation_p.E1925Q|FRAS1_uc010ijj.1_Missense_Mutation_p.E345Q NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1924 CSPG 7.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGAAAGCATTGAGCCAACCCA 0.393 10 376 --- --- --- --- PASS NAA11 84779 broad.mit.edu 37 4 80246623 80246623 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:80246623A>G uc003hlt.3 - 1 549 c.409T>C c.(409-411)TAC>CAC p.Y137H NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 137 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TCTGCATAGTATTTAGGTTCC 0.493 23 81 --- --- --- --- PASS SEC31A 22872 broad.mit.edu 37 4 83802003 83802003 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:83802003G>C uc003hnf.2 - 3 316 c.152C>G c.(151-153)TCT>TGT p.S51C SEC31A_uc011ccl.1_Missense_Mutation_p.S51C|SEC31A_uc003hnl.2_Missense_Mutation_p.S51C|SEC31A_uc003hng.2_Missense_Mutation_p.S51C|SEC31A_uc003hnh.2_Missense_Mutation_p.S51C|SEC31A_uc003hni.2_Missense_Mutation_p.S51C|SEC31A_uc003hnj.2_Missense_Mutation_p.S51C|SEC31A_uc011ccm.1_Missense_Mutation_p.S46C|SEC31A_uc011ccn.1_Missense_Mutation_p.S51C|SEC31A_uc003hnk.2_Missense_Mutation_p.S51C|SEC31A_uc003hnm.2_Missense_Mutation_p.S51C|SEC31A_uc003hnn.1_Missense_Mutation_p.S51C|SEC31A_uc003hno.2_Missense_Mutation_p.S51C NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 51 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GGATGGATCAGAGAGGTCTAA 0.333 39 215 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84374925 84374925 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:84374925G>C uc003hom.2 - 2 650 c.471C>G c.(469-471)CTC>CTG p.L157L HELQ_uc010ikb.2_Silent_p.L157L|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Silent_p.L51L|HELQ_uc003hoo.1_Silent_p.L120L|HELQ_uc003hop.1_Silent_p.L51L|HELQ_uc003hoq.1_Silent_p.L157L|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 157 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TAGTAATGCTGAGTTTGTTTT 0.398 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 96 407 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87695598 87695598 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:87695598C>T uc003hpz.2 + 33 5902 c.5422C>T c.(5422-5424)CAG>TAG p.Q1808* PTPN13_uc003hpy.2_Nonsense_Mutation_p.Q1813*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.Q1789*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.Q1617*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.Q174* NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1808 PDZ 4. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAAAGGCAATCAGAGAATTGG 0.393 7 22 --- --- --- --- PASS KLHL8 57563 broad.mit.edu 37 4 88116479 88116479 + Silent SNP G C C rs149338950 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:88116479G>C uc011cdb.1 - 2 598 c.213C>G c.(211-213)CTC>CTG p.L71L KLHL8_uc003hql.1_Silent_p.L71L|KLHL8_uc003hqm.1_Silent_p.L71L|KLHL8_uc003hqn.1_Silent_p.L71L|KLHL8_uc010ikj.1_5'UTR NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 71 BTB. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) ATCTCACCTTGAGTGTGACAT 0.363 15 73 --- --- --- --- PASS FAM13A 10144 broad.mit.edu 37 4 89668800 89668800 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:89668800G>A uc003hse.1 - 18 2572 c.2364C>T c.(2362-2364)AGC>AGT p.S788S FAM13A_uc003hsa.1_Silent_p.S259S|FAM13A_uc003hsb.1_Silent_p.S462S|FAM13A_uc003hsd.1_Silent_p.S462S|FAM13A_uc003hsc.1_Silent_p.S448S|FAM13A_uc011cdq.1_Silent_p.S434S|FAM13A_uc003hsf.1_Silent_p.S374S|FAM13A_uc003hsg.1_Silent_p.S259S NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 788 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CCTCAGGGCGGCTGCTTTCCG 0.502 5 278 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90169059 90169059 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:90169059T>C uc003hsm.1 - 2 2722 c.2203A>G c.(2203-2205)ATT>GTT p.I735V NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 735 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCTGAGGAAATGGATCTCCGG 0.483 50 205 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91549249 91549249 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:91549249A>T uc003hsv.3 + 6 2138 c.1798A>T c.(1798-1800)AGT>TGT p.S600C FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.S600C NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 600 large_intestine(1)|ovary(1) 2 AATGCCCAACAGTCCATCTGC 0.448 24 104 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91549337 91549337 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:91549337C>T uc003hsv.3 + 6 2226 c.1886C>T c.(1885-1887)ACG>ATG p.T629M FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.T629M NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 629 large_intestine(1)|ovary(1) 2 CAGGACTGCACGGCAGTCAAG 0.428 6 113 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94006149 94006149 + Missense_Mutation SNP G T T rs78241610 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:94006149G>T uc011cdt.1 + 3 506 c.248G>T c.(247-249)TGT>TTT p.C83F GRID2_uc010ikx.2_Missense_Mutation_p.C83F|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 83 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTTGCAGCCTGTGAACTTATG 0.458 36 63 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114276263 114276263 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:114276263G>A uc003ibe.3 + 38 6589 c.6489G>A c.(6487-6489)CAG>CAA p.Q2163Q ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.Q2178Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2130 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAAAGGCACAGCTTCACTTAG 0.443 53 65 --- --- --- --- PASS NDST3 9348 broad.mit.edu 37 4 119035982 119035982 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:119035982G>C uc003ibx.2 + 4 1494 c.1091G>C c.(1090-1092)GGA>GCA p.G364A NDST3_uc011cgf.1_Intron NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 364 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 GAAGATGAAGGAGATGACTGT 0.423 8 119 --- --- --- --- PASS PRSS12 8492 broad.mit.edu 37 4 119203131 119203131 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:119203131G>C uc003ica.1 - 13 2635 c.2588C>G c.(2587-2589)TCA>TGA p.S863* NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 863 Peptidase S1. membrane scavenger receptor activity skin(1) 1 TACAAAGGCTGAGACTTTGGT 0.458 58 89 --- --- --- --- PASS C4orf31 79625 broad.mit.edu 37 4 121958117 121958117 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:121958117C>T uc003idq.1 - 4 1536 c.1009G>A c.(1009-1011)GAA>AAA p.E337K NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 337 0 TGTTTGGCTTCTTCCTTGGTC 0.438 91 129 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126371212 126371212 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:126371212G>T uc003ifj.3 + 9 9041 c.9041G>T c.(9040-9042)GGA>GTA p.G3014V FAT4_uc011cgp.1_Missense_Mutation_p.G1312V|FAT4_uc003ifi.1_Missense_Mutation_p.G492V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3014 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AAAGATTTTGGACTGAATTCA 0.348 51 109 --- --- --- --- PASS NAA15 80155 broad.mit.edu 37 4 140291423 140291423 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:140291423G>A uc003ihu.1 + 15 2068 c.1812G>A c.(1810-1812)AAG>AAA p.K604K NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 604 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 GAGCTCAAAAGAAAGCCCAGA 0.184 3 26 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143003189 143003189 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:143003189C>T uc003iix.3 - 26 3232 c.2637G>A c.(2635-2637)ATG>ATA p.M879I INPP4B_uc003iiw.3_Missense_Mutation_p.M879I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M694I|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 879 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GATACCTTCTCATGCAATCCA 0.343 40 61 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143029291 143029291 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:143029291G>C uc003iix.3 - 24 2924 c.2329C>G c.(2329-2331)CTA>GTA p.L777V INPP4B_uc003iiw.3_Missense_Mutation_p.L777V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.L592V|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 777 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TATTCTTGTAGAAGTTCGAAG 0.323 8 84 --- --- --- --- PASS C4orf51 646603 broad.mit.edu 37 4 146617716 146617716 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:146617716C>G uc003ikk.2 + 2 239 c.239C>G c.(238-240)TCA>TGA p.S80* NM_001080531 NP_001074000 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 80 0 CTTAGGATGTCATTGACAAAC 0.403 40 75 --- --- --- --- PASS PRMT10 90826 broad.mit.edu 37 4 148575157 148575157 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:148575157C>G uc003ilc.2 - 9 2033 c.1891G>C c.(1891-1893)GAA>CAA p.E631Q PRMT10_uc003ilb.2_Missense_Mutation_p.E275Q|PRMT10_uc003ild.2_Missense_Mutation_p.E518Q NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 631 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TCAAGTGTTTCTTTAGGAAAG 0.418 21 198 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153244124 153244124 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:153244124G>C uc003ims.2 - 12 2182 c.2033C>G c.(2032-2034)TCA>TGA p.S678* FBXW7_uc011cii.1_Nonsense_Mutation_p.S678*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S678*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S502*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S598*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S560* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 678 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTGTGTTTGAGGCTCTGAT 0.493 Mis|N|D|F colorectal|endometrial|T-ALL 44 233 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155157121 155157121 + Missense_Mutation SNP C G G rs145835627 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:155157121C>G uc003inw.2 - 25 7318 c.7318G>C c.(7318-7320)GAC>CAC p.D2440H NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2440 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AACTGTCTGTCTTTATTCTTT 0.428 9 112 --- --- --- --- PASS GLRB 2743 broad.mit.edu 37 4 158059978 158059978 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:158059978G>A uc003ipj.2 + 7 830 c.628G>A c.(628-630)GAT>AAT p.D210N NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 210 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CACAACTGATGATTTACGATT 0.249 44 78 --- --- --- --- PASS TRIM60 166655 broad.mit.edu 37 4 165962382 165962382 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:165962382G>A uc003iqy.1 + 3 1328 c.1158G>A c.(1156-1158)TGG>TGA p.W386* TRIM60_uc010iqx.1_Nonsense_Mutation_p.W386* NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 386 B30.2/SPRY. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) GCGGATTCTGGGCAATTGGGC 0.453 77 128 --- --- --- --- PASS TMEM192 201931 broad.mit.edu 37 4 166006831 166006831 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:166006831C>A uc003iqz.3 - 5 683 c.584G>T c.(583-585)CGG>CTG p.R195L NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN transmembrane protein 192 195 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) ATTAAATCTCCGGATTTTCAC 0.318 14 105 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177608573 177608573 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:177608573C>G uc003ius.1 - 6 1343 c.913G>C c.(913-915)GGA>CGA p.G305R NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 305 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|2. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTGTGGGGTCCACAGCTGGCA 0.507 90 120 --- --- --- --- PASS ACSL1 2180 broad.mit.edu 37 4 185687114 185687114 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:185687114C>G uc003iww.2 - 14 1584 c.1290G>C c.(1288-1290)CTG>CTC p.L430L ACSL1_uc011ckm.1_Silent_p.L259L|ACSL1_uc003iwt.1_Silent_p.L430L|ACSL1_uc003iwu.1_Silent_p.L430L|ACSL1_uc011ckn.1_Silent_p.L396L|ACSL1_uc003iws.1_5'UTR NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 430 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTGTCACCATCAGCCGGACTC 0.652 36 68 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186533109 186533109 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:186533109C>T uc003iyl.2 - 18 3767 c.2909G>A c.(2908-2910)AGA>AAA p.R970K SORBS2_uc003iyh.2_Missense_Mutation_p.R694K|SORBS2_uc011ckw.1_Missense_Mutation_p.R531K|SORBS2_uc003iyi.2_Missense_Mutation_p.R601K|SORBS2_uc011ckx.1_Missense_Mutation_p.R536K|SORBS2_uc003iyk.2_Missense_Mutation_p.R514K|SORBS2_uc003iym.2_Missense_Mutation_p.R1070K|SORBS2_uc003iyn.1_Missense_Mutation_p.R561K|SORBS2_uc011cku.1_Missense_Mutation_p.R362K|SORBS2_uc011ckv.1_Missense_Mutation_p.R874K|SORBS2_uc003iyd.2_Missense_Mutation_p.R669K|SORBS2_uc003iye.2_Missense_Mutation_p.R543K|SORBS2_uc003iya.2_Missense_Mutation_p.R490K|SORBS2_uc003iyb.2_Missense_Mutation_p.R443K|SORBS2_uc003iyc.2_Missense_Mutation_p.R423K|SORBS2_uc003iyg.2_Missense_Mutation_p.R1084K|SORBS2_uc003iyf.2_Missense_Mutation_p.R506K|SORBS2_uc003iyo.1_Missense_Mutation_p.R419K NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 970 SH3 2. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TTGATCAACTCTTTTAAGAAG 0.343 5 57 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187178478 187178478 + Missense_Mutation SNP G A A rs61750344 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:187178478G>A uc003iyy.2 + 14 1755 c.1684G>A c.(1684-1686)GTC>ATC p.V562I KLKB1_uc011clc.1_Missense_Mutation_p.V360I|KLKB1_uc011cld.1_Intron NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 562 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CCAACGGATGGTCTGTGCTGG 0.328 9 214 --- --- --- --- PASS F11 2160 broad.mit.edu 37 4 187207596 187207596 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:187207596C>G uc003iza.1 + 13 1841 c.1508C>G c.(1507-1509)TCC>TGC p.S503C uc003izb.1_Intron NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 503 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TGCCTGCCTTCCAAAGGAGAT 0.378 118 190 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187584725 187584725 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:187584725G>A uc003izf.2 - 3 3496 c.3308C>T c.(3307-3309)TCC>TTC p.S1103F NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1103 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCAATAATGGGAGGTCGATTC 0.458 HNSCC(5;0.00058) 4 119 --- --- --- --- PASS FRG1 2483 broad.mit.edu 37 4 190883087 190883087 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr4:190883087G>T uc003izs.2 + 8 931 c.740G>T c.(739-741)AGG>ATG p.R247M NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 247 Bipartite nuclear localization signal (Potential). rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) CTTCTGGACAGGTAGCTATTT 0.328 4 119 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 182199 182199 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:182199G>C uc003jak.2 + 18 3627 c.3577G>C c.(3577-3579)GAC>CAC p.D1193H NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1193 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CACCATCTCAGACAGCAGCAC 0.627 7 125 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5232531 5232531 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:5232531C>T uc003jdl.2 + 12 1890 c.1752C>T c.(1750-1752)CCC>CCT p.P584P ADAMTS16_uc003jdk.1_Silent_p.P584P|ADAMTS16_uc010itk.1_5'Flank NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 584 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCCCCAAGCCCACCCATGGCC 0.527 9 207 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5235206 5235206 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:5235206A>C uc003jdl.2 + 13 2068 c.1930A>C c.(1930-1932)AGT>CGT p.S644R ADAMTS16_uc003jdk.1_Missense_Mutation_p.S644R|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 644 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCCCCGGGACAGTGTTGACTT 0.522 43 99 --- --- --- --- PASS PAPD7 11044 broad.mit.edu 37 5 6750603 6750603 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:6750603C>T uc003jdx.1 + 10 1226 c.1097C>T c.(1096-1098)TCT>TTT p.S366F PAPD7_uc011cmn.1_Missense_Mutation_p.S357F|PAPD7_uc010itl.1_Missense_Mutation_p.S186F NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 366 Ser-rich. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 TCTTCACTTTCTGGGAGTGAC 0.567 4 103 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16754996 16754996 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:16754996C>A uc003jft.3 - 19 2338 c.1870G>T c.(1870-1872)GCA>TCA p.A624S MYO10_uc010itx.2_Missense_Mutation_p.A247S NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 624 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CTTAGCGTTGCCATTAAGGAA 0.388 7 19 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19838895 19838895 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:19838895C>A uc003jgc.2 - 2 578 c.201G>T c.(199-201)ATG>ATT p.M67I CDH18_uc003jgd.2_Missense_Mutation_p.M67I|CDH18_uc011cnm.1_Missense_Mutation_p.M67I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 67 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATCTGGTCCCATATGTTCTT 0.393 24 109 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975445 21975445 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:21975445G>C uc010iuc.2 - 3 739 c.281C>G c.(280-282)TCA>TGA p.S94* CDH12_uc011cno.1_Nonsense_Mutation_p.S94*|CDH12_uc003jgk.2_Nonsense_Mutation_p.S94* NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 94 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GCCATCTCCTGAGAGGGTGTA 0.373 HNSCC(59;0.17) 29 259 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23526672 23526672 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:23526672G>A uc003jgo.2 + 11 1657 c.1475G>A c.(1474-1476)AGA>AAA p.R492K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 492 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GTGGGAAAAAGAATAATGGAA 0.448 HNSCC(3;0.000094) 12 44 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527570 23527570 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:23527570C>A uc003jgo.2 + 11 2555 c.2373C>A c.(2371-2373)CTC>CTA p.L791L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 791 C2H2-type 11. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGTCAAACCTCCTCAGTCACC 0.562 HNSCC(3;0.000094) 45 197 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24498608 24498608 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:24498608G>T uc003jgr.1 - 9 1746 c.1414C>A c.(1414-1416)CGC>AGC p.R472S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 472 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) ACAGCCACGCGTGTTGTCTCT 0.383 HNSCC(23;0.051) 45 120 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33561194 33561194 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:33561194C>A uc003jia.1 - 20 4226 c.4063G>T c.(4063-4065)GAC>TAC p.D1355Y ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1270Y NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1355 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TTTGCAGGGTCAGGTCTCTGG 0.572 HNSCC(64;0.19) 67 198 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576160 33576160 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:33576160T>A uc003jia.1 - 19 4134 c.3971A>T c.(3970-3972)GAG>GTG p.E1324V ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1239V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1324 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ATGTCTTACCTCGCTCCAGTT 0.418 HNSCC(64;0.19) 44 124 --- --- --- --- PASS RAD1 5810 broad.mit.edu 37 5 34908871 34908871 + Nonstop_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:34908871C>G uc003jix.2 - 6 1177 c.848G>C c.(847-849)TGA>TCA p.*283S RAD1_uc003jiw.2_Nonstop_Mutation_p.*174S|RAD1_uc003jiy.2_Nonstop_Mutation_p.*283S NM_002853 NP_002844 O60671 RAD1_HUMAN RAD1 homolog 283 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding 0 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTGTCATACTCAAGACTCAGA 0.313 Other_conserved_DNA_damage_response_genes 12 151 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36115160 36115160 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:36115160G>A uc003jkb.1 - 12 1914 c.1499C>T c.(1498-1500)TCA>TTA p.S500L NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 500 Extracellular (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAGATAGATGAATCCATATG 0.338 11 74 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37293071 37293071 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:37293071C>G uc003jku.1 - 34 4065 c.3947G>C c.(3946-3948)AGA>ACA p.R1316T NUP155_uc003jkt.1_Missense_Mutation_p.R1257T|NUP155_uc010iuz.1_Missense_Mutation_p.R1252T NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1316 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCTTCATTCTGTTCCAGAA 0.313 66 157 --- --- --- --- PASS WDR70 55100 broad.mit.edu 37 5 37723010 37723010 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:37723010C>T uc003jkv.2 + 15 1629 c.1571C>T c.(1570-1572)ACT>ATT p.T524I NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 524 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAGCTGAGACTCTAACTCAG 0.403 12 144 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41510613 41510613 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:41510613C>T uc003jmm.1 - 1 118 c.16G>A c.(16-18)GGG>AGG p.G6R NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 6 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TCGTTTTTCCCCTGAGACGAG 0.607 5 40 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64520828 64520828 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:64520828C>T uc003jtp.2 - 17 2928 c.2114G>A c.(2113-2115)AGA>AAA p.R705K ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R326K NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 705 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GACTCGACATCTATCTTCCCT 0.443 43 44 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64766952 64766952 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:64766952G>C uc003jtp.2 - 3 929 c.115C>G c.(115-117)CTT>GTT p.L39V ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Translation_Start_Site NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 39 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TAGTGTTCAAGATAAGTCAGG 0.358 5 92 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66055606 66055606 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:66055606C>A uc003jur.3 + 2 741 c.433C>A c.(433-435)CCT>ACT p.P145T MAST4_uc010iwz.2_Missense_Mutation_p.P145T NM_198828 NP_942123 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 145 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGCTTCTGGCCCTGGAAAATC 0.542 4 84 --- --- --- --- PASS RGNEF 64283 broad.mit.edu 37 5 73163738 73163738 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:73163738C>T uc011csq.1 + 18 2201 c.2190C>T c.(2188-2190)TCC>TCT p.S730S RGNEF_uc003kcx.2_Silent_p.S730S|RGNEF_uc010izf.2_Silent_p.S730S|RGNEF_uc011csr.1_Silent_p.S417S NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 730 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CTGGTCTCTCCTTGCACCCTT 0.493 39 67 --- --- --- --- PASS POC5 134359 broad.mit.edu 37 5 74986241 74986241 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:74986241C>G uc003keh.3 - 8 1139 c.942G>C c.(940-942)CAG>CAC p.Q314H POC5_uc010izu.2_Missense_Mutation_p.Q197H|POC5_uc003keg.3_Missense_Mutation_p.Q289H NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 314 cell cycle centriole lung(1) 1 CATTGGAAATCTGGATACAAA 0.368 14 24 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029970 79029970 + Silent SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:79029970A>T uc003kgc.2 + 2 5454 c.5382A>T c.(5380-5382)ACA>ACT p.T1794T NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1794 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTGAAGAAACAGGCCACCCAA 0.398 36 69 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86679528 86679528 + Splice_Site SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:86679528A>G uc003kiw.2 + 21 2809 c.2691_splice c.e21-2 p.S897_splice RASA1_uc010jav.2_Splice_Site|RASA1_uc003kix.2_Splice_Site_p.S720_splice|RASA1_uc011ctv.1_Splice_Site_p.S730_splice|RASA1_uc011ctw.1_Splice_Site_p.S731_splice|RASA1_uc010jaw.2_Splice_Site_p.S719_splice NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CCTCCCATTCAGTGGTTTTGT 0.294 31 37 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89930986 89930986 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:89930986G>T uc003kju.2 + 10 1991 c.1895G>T c.(1894-1896)AGA>ATA p.R632I GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 632 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) ATAAGCCCTAGATTTGGGGAA 0.343 5 134 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90149175 90149175 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:90149175G>A uc003kju.2 + 80 17375 c.17279G>A c.(17278-17280)GGA>GAA p.G5760E GPR98_uc003kjt.2_Missense_Mutation_p.G3466E|GPR98_uc003kjw.2_Missense_Mutation_p.G1421E NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5760 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) CAAATCAATGGACACAAGTTT 0.408 116 102 --- --- --- --- PASS ELL2 22936 broad.mit.edu 37 5 95226858 95226858 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:95226858G>C uc003klr.3 - 10 2060 c.1710C>G c.(1708-1710)ATC>ATG p.I570M NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 570 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CATCTAGTTTGATAAATCTTC 0.403 28 438 --- --- --- --- PASS ST8SIA4 7903 broad.mit.edu 37 5 100147594 100147594 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:100147594C>G uc003knk.2 - 5 1365 c.1037G>C c.(1036-1038)AGA>ACA p.R346T NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 346 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TAGAGCTCCTCTATTATGTAG 0.318 10 99 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102465360 102465360 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:102465360C>T uc003kod.3 + 2 586 c.67C>T c.(67-69)CAT>TAT p.H23Y PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.H23Y|PPIP5K2_uc010jbo.1_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 23 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 AAATTATCGACATTTCTTCCA 0.363 9 72 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102522026 102522026 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:102522026C>T uc003kod.3 + 27 3694 c.3175C>T c.(3175-3177)CAC>TAC p.H1059Y PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.H1059Y|PPIP5K2_uc003kof.2_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 1059 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 ATCAGGGTCTCACTGTGCGGG 0.478 5 70 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112178500 112178500 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:112178500G>C uc010jby.2 + 16 7589 c.7209G>C c.(7207-7209)CAG>CAC p.Q2403H APC_uc011cvt.1_Missense_Mutation_p.Q2385H|APC_uc003kpz.3_Missense_Mutation_p.Q2403H|APC_uc003kpy.3_Missense_Mutation_p.Q2403H|APC_uc010jbz.2_Missense_Mutation_p.Q2120H|APC_uc010jca.2_Missense_Mutation_p.Q1703H NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2403 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GACTAAATCAGATGAATAATG 0.378 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 14 116 --- --- --- --- PASS MCC 4163 broad.mit.edu 37 5 112720775 112720775 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:112720775C>G uc003kql.3 - 2 721 c.305G>C c.(304-306)CGA>CCA p.R102P MCC_uc003kqk.3_RNA NM_001085377 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 1 Error:Variant_position_missing_in_P23508_after_alignment negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCTAATTTCTCGAACAAGCTG 0.463 46 232 --- --- --- --- PASS CCDC112 153733 broad.mit.edu 37 5 114611184 114611184 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:114611184G>A uc003kqy.2 - 6 911 c.398C>T c.(397-399)TCA>TTA p.S133L CCDC112_uc003kqz.2_Missense_Mutation_p.S216L|CCDC112_uc003kra.2_Missense_Mutation_p.S216L NM_152549 NP_689762 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 isoform 2 133 0 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) AACTTTGCTTGAGATTGCTCT 0.403 50 255 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118485784 118485784 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:118485784C>G uc003ksd.2 + 18 4443 c.4262C>G c.(4261-4263)TCA>TGA p.S1421* DMXL1_uc010jcl.1_Nonsense_Mutation_p.S1421* NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1421 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGCTGTTACTCATCTTTGGAG 0.343 44 186 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118503367 118503367 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:118503367G>C uc003ksd.2 + 23 5387 c.5206G>C c.(5206-5208)GAT>CAT p.D1736H DMXL1_uc010jcl.1_Missense_Mutation_p.D1736H NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1736 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTCTGAATTTGATACATCTGC 0.299 24 76 --- --- --- --- PASS PHAX 51808 broad.mit.edu 37 5 125952978 125952978 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:125952978C>G uc003kua.1 + 4 890 c.868C>G c.(868-870)CTG>GTG p.L290V NM_032177 NP_115553 Q9H814 PHAX_HUMAN RNA U, small nuclear RNA export adaptor 290 Necessary for interaction with CBP80 (By similarity).|Sufficient for poly U RNA-binding. ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding 0 TGGAGTTTTTCTGAATCTCTT 0.378 34 87 --- --- --- --- PASS SLC12A2 6558 broad.mit.edu 37 5 127469886 127469886 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:127469886C>G uc003kus.2 + 6 1382 c.1218C>G c.(1216-1218)ATC>ATG p.I406M SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.I406M NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 406 Extracellular (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TAGATGAAATCAATGATATCC 0.318 57 187 --- --- --- --- PASS CATSPER3 347732 broad.mit.edu 37 5 134345085 134345085 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:134345085G>A uc003lag.2 + 6 909 c.841G>A c.(841-843)GAG>AAG p.E281K NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 281 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTTGAGCGAGAGCTGATGTT 0.547 45 109 --- --- --- --- PASS HSPA9 3313 broad.mit.edu 37 5 137906704 137906704 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:137906704C>T uc003ldf.2 - 4 463 c.355G>A c.(355-357)GCT>ACT p.A119T HSPA9_uc011cyw.1_Missense_Mutation_p.A50T NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 119 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CGCTTGGTAGCATAAAATGTA 0.458 19 228 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139909089 139909089 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:139909089G>C uc003lfs.1 + 29 6682 c.6558G>C c.(6556-6558)ATG>ATC p.M2186I ANKHD1_uc003lfr.2_Missense_Mutation_p.M2186I|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.M925I|ANKHD1_uc003lfw.2_Missense_Mutation_p.M824I|ANKHD1_uc010jfl.2_Missense_Mutation_p.M621I|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.M323I NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2186 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACATTATGAATGGTTCTC 0.438 7 263 --- --- --- --- PASS PCDHA12 56137 broad.mit.edu 37 5 140256033 140256033 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140256033G>C uc003lic.2 + 1 1103 c.976G>C c.(976-978)GGG>CGG p.G326R 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_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G326R NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 326 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTGATAAAGGGATTCCTTC 0.418 107 94 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140482129 140482129 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140482129G>A uc003lio.2 + 1 1896 c.1896G>A c.(1894-1896)GAG>GAA p.E632E uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 632 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGAGCGAGCGCGACGCGG 0.697 55 60 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140589877 140589877 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140589877C>A uc003liz.2 + 1 1587 c.1398C>A c.(1396-1398)CCC>CCA p.P466P PCDHB12_uc011dak.1_Silent_p.P129P NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 466 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACAGCCCCGCCCTGCACA 0.642 66 63 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140735937 140735937 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140735937G>T uc003ljq.1 + 1 1170 c.1170G>T c.(1168-1170)CTG>CTT p.L390L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L390L NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 390 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cagataatctgccattcacac 0.313 5 5 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140774445 140774445 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140774445C>T uc003lkd.1 + 1 2963 c.2065C>T c.(2065-2067)CTT>TTT p.L689F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.L689F NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 689 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATTCGAGCCTTACACTCTA 0.612 12 28 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140798363 140798363 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140798363G>C uc003lkn.1 + 1 1082 c.937G>C c.(937-939)GAA>CAA p.E313Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.E313Q|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 313 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGAAGTAGAAAGATATAC 0.413 13 40 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140799720 140799720 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140799720T>G uc003lkn.1 + 1 2439 c.2294T>G c.(2293-2295)TTT>TGT p.F765C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.F765C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 765 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCCAGAATTTAATTTTTTC 0.453 65 56 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140801496 140801496 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:140801496C>T uc003lkq.1 + 1 960 c.702C>T c.(700-702)CTC>CTT p.L234L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.L234L|PCDHGA11_uc003lkp.1_Silent_p.L234L NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 234 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGTCCTCGATGTAAATG 0.517 64 140 --- --- --- --- PASS DPYSL3 1809 broad.mit.edu 37 5 146773613 146773613 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:146773613G>C uc003lon.1 - 14 1808 c.1698C>G c.(1696-1698)ATC>ATG p.I566M DPYSL3_uc003loo.2_Missense_Mutation_p.I680M NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 566 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGATGTGATATTAGAAC 0.507 20 138 --- --- --- --- PASS TNIP1 10318 broad.mit.edu 37 5 150416412 150416412 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:150416412C>A uc003ltf.2 - 13 1923 c.1334G>T c.(1333-1335)GGA>GTA p.G445V TNIP1_uc011dcn.1_5'Flank|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.G445V|TNIP1_uc010jhn.2_Missense_Mutation_p.G445V|TNIP1_uc011dco.1_Missense_Mutation_p.G445V|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.G445V|TNIP1_uc003ltg.2_Missense_Mutation_p.G392V|TNIP1_uc003ltj.2_Missense_Mutation_p.G445V|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.G392V|TNIP1_uc010jhp.1_Missense_Mutation_p.G392V|TNIP1_uc010jhr.1_Missense_Mutation_p.G445V|TNIP1_uc003ltk.2_Missense_Mutation_p.G445V NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 445 Potential. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCCCTGCTCCTTCTGGGCT 0.572 30 112 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150925111 150925111 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:150925111G>A uc003lue.3 - 9 5590 c.5577C>T c.(5575-5577)ATC>ATT p.I1859I GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1859 Extracellular (Potential).|Cadherin 16. 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) TGACATGAATGATGACTTGGG 0.468 55 137 --- --- --- --- PASS FAM114A2 10827 broad.mit.edu 37 5 153372613 153372613 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:153372613C>G uc003lvb.2 - 14 2029 c.1441G>C c.(1441-1443)GAG>CAG p.E481Q FAM114A2_uc003lvc.2_Missense_Mutation_p.E481Q|FAM114A2_uc003lvd.2_Missense_Mutation_p.E481Q|FAM114A2_uc003lve.2_Missense_Mutation_p.E297Q|FAM114A2_uc011dda.1_Missense_Mutation_p.E411Q NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 481 purine nucleotide binding 0 AGAGAGATCTCTAGCACAGGT 0.418 47 152 --- --- --- --- PASS C5orf4 10826 broad.mit.edu 37 5 154199911 154199911 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:154199911C>A uc003lvs.3 - 9 1138 c.967G>T c.(967-969)GAG>TAG p.E323* C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Silent_p.L62L|C5orf4_uc011dde.1_Nonsense_Mutation_p.E300* NM_032385 NP_115761 Q96IV6 CE004_HUMAN hypothetical protein LOC10826 323 fatty acid biosynthetic process integral to membrane iron ion binding|oxidoreductase activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGGATGCTCTCAGAGAGCGGG 0.582 6 47 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154393886 154393886 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:154393886G>T uc010jih.1 + 1 627 c.467G>T c.(466-468)CGT>CTT p.R156L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 156 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGCCCATCTCGTGAGAAAGCT 0.358 200 183 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156747723 156747723 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:156747723T>A uc003lwq.2 + 17 1722 c.1584T>A c.(1582-1584)AAT>AAA p.N528K CYFIP2_uc011ddn.1_Missense_Mutation_p.N502K|CYFIP2_uc011ddo.1_Missense_Mutation_p.N332K|CYFIP2_uc003lwr.2_Missense_Mutation_p.N528K|CYFIP2_uc003lws.2_Missense_Mutation_p.N528K|CYFIP2_uc003lwt.2_Missense_Mutation_p.N406K|CYFIP2_uc011ddp.1_Missense_Mutation_p.N262K NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 528 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCCCCCTAATGACCCATGCT 0.567 31 46 --- --- --- --- PASS THG1L 54974 broad.mit.edu 37 5 157159883 157159883 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:157159883G>A uc003lxd.2 + 2 325 c.199G>A c.(199-201)GAG>AAG p.E67K THG1L_uc011ddu.1_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 67 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGGTTTGCTGAGAAGCACAA 0.473 26 109 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161300180 161300180 + Nonsense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:161300180A>T uc010jiw.2 + 6 781 c.313A>T c.(313-315)AAA>TAA p.K105* GABRA1_uc010jix.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.K105*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.K105*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jja.2_Nonsense_Mutation_p.K105*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.K105* NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 105 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GTTAAAATTTAAAGGACCTAT 0.383 52 220 --- --- --- --- PASS COL23A1 91522 broad.mit.edu 37 5 177733903 177733903 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:177733903C>T uc003mje.2 - 3 737 c.379G>A c.(379-381)GGC>AGC p.G127S NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 127 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCAGGCTTGCCGCGCCGTCCA 0.617 3 25 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178416114 178416114 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:178416114G>A uc003mjr.2 - 6 1355 c.1176C>T c.(1174-1176)GAC>GAT p.D392D GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.D12D NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 392 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CGTAGGTGGAGTCCCGGCCGA 0.617 15 19 --- --- --- --- PASS ZNF354C 30832 broad.mit.edu 37 5 178505850 178505850 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:178505850G>C uc003mju.2 + 5 532 c.417G>C c.(415-417)GAG>GAC p.E139D NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AAGAGCAAGAGAAGAAACCTC 0.378 7 213 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178562931 178562931 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:178562931G>C uc003mjw.2 - 13 2064 c.2064C>G c.(2062-2064)CTC>CTG p.L688L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 688 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGCGCACACAGAGGCTGAAGG 0.527 32 93 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7247378 7247378 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:7247378G>T uc003mxc.2 + 11 4920 c.4530G>T c.(4528-4530)AGG>AGT p.R1510S RREB1_uc003mxb.2_Missense_Mutation_p.R1565S|RREB1_uc010jnx.2_Intron NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1510 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGACAAGAGGAAGAAGGTCT 0.607 19 25 --- --- --- --- PASS RANBP9 10048 broad.mit.edu 37 6 13625971 13625971 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:13625971G>A uc003nbb.2 - 13 2032 c.1973C>T c.(1972-1974)TCA>TTA p.S658L RANBP9_uc003nba.2_Missense_Mutation_p.S317L NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 658 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) CCAGGGATCTGAATATGCTAG 0.393 18 287 --- --- --- --- PASS DTNBP1 84062 broad.mit.edu 37 6 15627678 15627678 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:15627678G>C uc003nbm.2 - 5 422 c.251C>G c.(250-252)TCT>TGT p.S84C DTNBP1_uc003nbl.2_Missense_Mutation_p.S3C|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.S84C|DTNBP1_uc010jph.2_Missense_Mutation_p.S71C NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 isoform a 84 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding 0 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) CCAGTGCGCAGAAAGCATGAC 0.488 Hermansky-Pudlak_syndrome 31 38 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25811766 25811766 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:25811766G>C uc003nfh.3 - 10 1154 c.1038C>G c.(1036-1038)CTC>CTG p.L346L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.L344L|SLC17A1_uc010jqc.1_Silent_p.L290L NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 346 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 TTGCAGGAAGGAGAAATCCTG 0.463 22 108 --- --- --- --- PASS HIST1H4B 8366 broad.mit.edu 37 6 26027306 26027306 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:26027306G>A uc003nfr.2 - 1 175 c.175C>T c.(175-177)CTC>TTC p.L59F NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 59 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 AACACCTTGAGAACGCCACGA 0.552 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 89 --- --- --- --- PASS HIST1H2AE 3012 broad.mit.edu 37 6 26217427 26217427 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:26217427G>C uc003nha.1 + 1 280 c.225G>C c.(223-225)AAG>AAC p.K75N HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 75 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) GCGACAATAAGAAGACCCGCA 0.617 5 67 --- --- --- --- PASS HIST1H3F 8968 broad.mit.edu 37 6 26250597 26250597 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:26250597G>C uc003nhg.1 - 1 239 c.237C>G c.(235-237)TTC>TTG p.F79L HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 79 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 GGTCGGTCTTGAAGTCCTGCG 0.587 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 99 --- --- --- --- PASS BTN3A2 11118 broad.mit.edu 37 6 26370746 26370746 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:26370746G>A uc010jqh.1 + 5 889 c.630G>A c.(628-630)ATG>ATA p.M210I BTN3A2_uc003nho.1_Missense_Mutation_p.M208I|BTN3A2_uc003nhp.2_Missense_Mutation_p.M210I|BTN3A2_uc011dkd.1_Missense_Mutation_p.M168I|BTN3A2_uc011dke.1_Missense_Mutation_p.M187I|BTN3A2_uc010jqi.1_Missense_Mutation_p.M208I NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor 210 Extracellular (Potential). integral to membrane 0 CTGTGATCATGAGAGGCGGCT 0.547 10 219 --- --- --- --- PASS PGBD1 84547 broad.mit.edu 37 6 28254933 28254933 + Silent SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:28254933A>T uc003nky.2 + 4 1000 c.630A>T c.(628-630)CCA>CCT p.P210P PGBD1_uc003nkz.2_Silent_p.P210P NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 210 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGTTTAACCCAGTCAGGTCCC 0.522 27 71 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29912276 29912276 + Splice_Site SNP G C C rs45540334 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:29912276G>C uc003nol.2 + 5 896 c.896_splice c.e5-1 p.E299_splice HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.E178_splice|HLA-A_uc003nok.2_Splice_Site_p.E178_splice|HLA-A_uc003non.2_Splice_Site_p.E299_splice|HLA-A_uc003noo.2_Splice_Site_p.E299_splice|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Splice_Site_p.E178_splice|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Splice_Site_p.E178_splice|HLA-A_uc011dmd.1_Splice_Site_p.E178_splice NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCTTTTCCCAGAGCTGTCTTC 0.587 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 18 53 --- --- --- --- PASS NFKBIL1 4795 broad.mit.edu 37 6 31525984 31525984 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:31525984G>A uc003nub.2 + 4 861 c.742G>A c.(742-744)GAG>AAG p.E248K NFKBIL1_uc011dnr.1_Missense_Mutation_p.E210K|NFKBIL1_uc011dns.1_Missense_Mutation_p.E225K|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.E233K NM_005007 NP_004998 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene 248 cytoplasmic sequestering of transcription factor protein binding 0 GCTCTTCAGGGAGCGAGCCCG 0.697 5 7 --- --- --- --- PASS BAT4 7918 broad.mit.edu 37 6 31631710 31631710 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:31631710C>A uc003nvn.2 - 2 1191 c.546G>T c.(544-546)CAG>CAT p.Q182H BAT4_uc003nvo.3_Missense_Mutation_p.Q182H|BAT4_uc003nvp.3_Missense_Mutation_p.Q182H|BAT4_uc003nvq.2_Missense_Mutation_p.Q182H|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank NM_033177 NP_149417 O95872 GPAN1_HUMAN HLA-B associated transcript 4 182 intracellular nucleic acid binding 0 CTTCAGCGAGCTGAGCCGCAT 0.642 25 32 --- --- --- --- PASS DDAH2 23564 broad.mit.edu 37 6 31695431 31695431 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:31695431C>G uc003nwp.2 - 5 1261 c.630G>C c.(628-630)CTG>CTC p.L210L DDAH2_uc003nwq.2_Silent_p.L210L NM_013974 NP_039268 O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 210 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding 0 L-Citrulline(DB00155) CTGGGAGGGTCAGGGAGGCAT 0.577 6 164 --- --- --- --- PASS DDAH2 23564 broad.mit.edu 37 6 31696795 31696795 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:31696795C>A uc003nwp.2 - 1 775 c.144G>T c.(142-144)CTG>CTT p.L48L DDAH2_uc003nwq.2_Silent_p.L48L NM_013974 NP_039268 O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 48 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding 0 L-Citrulline(DB00155) GTTTACCTCCCAGCACCCCGT 0.652 7 91 --- --- --- --- PASS MSH5 4439 broad.mit.edu 37 6 31709041 31709041 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:31709041G>C uc003nwv.1 + 3 328 c.249G>C c.(247-249)GAG>GAC p.E83D MSH5_uc003nwt.1_Missense_Mutation_p.E83D|MSH5_uc003nwu.1_Missense_Mutation_p.E83D|MSH5_uc003nww.1_Missense_Mutation_p.E83D|MSH5_uc003nwx.1_Missense_Mutation_p.E83D NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 83 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CAGACCACGAGAGCCTCAAGC 0.433 Direct_reversal_of_damage|MMR 73 152 --- --- --- --- PASS NOTCH4 4855 broad.mit.edu 37 6 32163487 32163487 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:32163487G>A uc003obb.2 - 30 5878 c.5739C>T c.(5737-5739)GGC>GGT p.G1913G GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Silent_p.G573G|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1913 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AAAACCTACGGCCGCGAGGGG 0.682 42 45 --- --- --- --- PASS RPS18 6222 broad.mit.edu 37 6 33244195 33244195 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:33244195G>C uc003odp.1 + 6 456 c.411G>C c.(409-411)AAG>AAC p.K137N RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 137 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 AGCACACCAAGACCACTGGCC 0.493 13 12 --- --- --- --- PASS RGL2 5863 broad.mit.edu 37 6 33261388 33261388 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:33261388A>G uc003odv.2 - 14 1730 c.1597T>C c.(1597-1599)TGG>CGG p.W533R RGL2_uc003odu.2_Missense_Mutation_p.W93R|RGL2_uc010jur.2_Missense_Mutation_p.W93R|RGL2_uc003odw.2_Missense_Mutation_p.W451R|RGL2_uc011drb.1_3'UTR NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 533 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 CACTCTGTCCACTGCGAGATG 0.582 15 81 --- --- --- --- PASS TAPBP 6892 broad.mit.edu 37 6 33281611 33281611 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:33281611G>C uc003odx.1 - 2 239 c.68C>G c.(67-69)GCG>GGG p.A23G TAPBP_uc010jus.1_Missense_Mutation_p.A23G|TAPBP_uc003ody.2_Missense_Mutation_p.A23G|TAPBP_uc003odz.2_Missense_Mutation_p.A23G|TAPBP_uc010jut.1_Missense_Mutation_p.A23G|TAPBP_uc011drc.1_Missense_Mutation_p.A23G NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 23 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 CTCGATCACCGCGGGTCCTGC 0.672 25 37 --- --- --- --- PASS C6orf106 64771 broad.mit.edu 37 6 34574439 34574439 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:34574439G>A uc003ojr.2 - 4 999 c.754C>T c.(754-756)CCT>TCT p.P252S C6orf106_uc003ojs.2_Missense_Mutation_p.P186S NM_024294 NP_077270 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 isoform a 252 skin(2)|ovary(1) 3 TCAGGAGCAGGAGCCCATGTG 0.483 18 137 --- --- --- --- PASS SLC26A8 116369 broad.mit.edu 37 6 35919038 35919038 + Missense_Mutation SNP C T T rs115071158 by1000genomes TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:35919038C>T uc003olm.2 - 19 2485 c.2374G>A c.(2374-2376)GTG>ATG p.V792M SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.V374M|SLC26A8_uc003oln.2_Missense_Mutation_p.V792M|SLC26A8_uc003oll.2_Missense_Mutation_p.V687M NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 792 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 GCAAACAGCACGGCGTCGTGA 0.488 55 65 --- --- --- --- PASS BRPF3 27154 broad.mit.edu 37 6 36168502 36168502 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:36168502G>C uc003olv.3 + 2 627 c.403G>C c.(403-405)GCT>CCT p.A135P BRPF3_uc010jwb.2_Missense_Mutation_p.A135P|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.A135P NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 135 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CCCGCTGCCTGCTGCCTACTA 0.567 63 80 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38840393 38840393 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:38840393C>G uc003ooe.1 + 48 7021 c.6421C>G c.(6421-6423)CTA>GTA p.L2141V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATCACGATTCTAATGAAGGC 0.458 78 120 --- --- --- --- PASS TREM2 54209 broad.mit.edu 37 6 41129307 41129307 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:41129307C>T uc003opy.2 - 2 187 c.85G>A c.(85-87)GGC>AGC p.G29S TREM2_uc003opz.2_Missense_Mutation_p.G59S|TREM2_uc010jxl.1_Missense_Mutation_p.G59S NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 29 Ig-like V-type.|Extracellular (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGGACTGGCCCGCCACGCCC 0.517 3 33 --- --- --- --- PASS BYSL 705 broad.mit.edu 37 6 41897925 41897925 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:41897925G>C uc003orl.2 + 3 823 c.487G>C c.(487-489)GAG>CAG p.E163Q NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 163 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GACAGAGGTTGAGACAGTCAT 0.607 23 83 --- --- --- --- PASS C6orf226 441150 broad.mit.edu 37 6 42858370 42858370 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:42858370G>C uc003osw.2 - 1 185 c.157C>G c.(157-159)CGG>GGG p.R53G NM_001008739 NP_001008739 Q5I0X4 CF226_HUMAN hypothetical protein LOC441150 53 0 CGCGGCAGCCGGGACGCTGTG 0.711 9 65 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43156308 43156308 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:43156308C>G uc003ouk.2 + 8 2110 c.2035C>G c.(2035-2037)CAG>GAG p.Q679E CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.Q679E|CUL9_uc010jyk.2_Translation_Start_Site|CUL9_uc003oum.1_3'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 679 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CTCCCTGGATCAGCATGTGGC 0.567 9 74 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43472568 43472568 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:43472568C>G uc003ovd.2 + 11 1025 c.649C>G c.(649-651)CCT>GCT p.P217A TJAP1_uc003ovf.2_Missense_Mutation_p.P207A|TJAP1_uc003ove.2_Missense_Mutation_p.P207A|TJAP1_uc003ovc.2_Missense_Mutation_p.P207A|TJAP1_uc010jyp.2_Missense_Mutation_p.P176A|TJAP1_uc011dvh.1_Missense_Mutation_p.P207A|TJAP1_uc003ovg.2_Missense_Mutation_p.P83A|TJAP1_uc011dvi.1_Missense_Mutation_p.P217A|TJAP1_uc011dvj.1_Missense_Mutation_p.P17A|TJAP1_uc003ovi.2_Missense_Mutation_p.P83A NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 217 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGCCCAGGTCCTGCTCCCAG 0.572 4 258 --- --- --- --- PASS CDC5L 988 broad.mit.edu 37 6 44360434 44360434 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:44360434G>T uc003oxl.2 + 3 439 c.180G>T c.(178-180)AAG>AAT p.K60N NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 60 HTH myb-type 2. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCATTAAGAAGACAGAATGGT 0.393 11 53 --- --- --- --- PASS PLA2G7 7941 broad.mit.edu 37 6 46678382 46678382 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:46678382G>T uc010jzf.2 - 8 946 c.677C>A c.(676-678)GCA>GAA p.A226E PLA2G7_uc010jzg.1_Missense_Mutation_p.A226E|PLA2G7_uc011dwd.1_Missense_Mutation_p.A181E|PLA2G7_uc011dwe.1_Missense_Mutation_p.A99E NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 226 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) ACATTCTTTTGCTCTTTGCCG 0.323 61 160 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46777263 46777263 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:46777263A>G uc010jzh.1 + 6 411 c.369A>G c.(367-369)CAA>CAG p.Q123Q MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.Q151Q|MEP1A_uc011dwi.1_Silent_p.Q23Q NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 123 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TCATATTTCAACAGTTTGATG 0.333 108 224 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46800903 46800903 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:46800903C>T uc010jzh.1 + 11 1279 c.1237C>T c.(1237-1239)CAG>TAG p.Q413* MEP1A_uc011dwg.1_Nonsense_Mutation_p.Q135*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.Q441*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.Q313* NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 413 Extracellular (Potential).|MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) AGGCGACCCTCAGAACTCAAC 0.507 76 137 --- --- --- --- PASS OPN5 221391 broad.mit.edu 37 6 47779408 47779408 + Splice_Site SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:47779408A>G uc003ozc.2 + 6 1004 c.999_splice c.e6-2 p.R333_splice OPN5_uc003ozd.2_Splice_Site_p.R168_splice NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TCCTATATCTAGGCTGCACAC 0.308 43 84 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847149 47847149 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:47847149G>C uc011dwm.1 - 3 1465 c.1380C>G c.(1378-1380)TTC>TTG p.F460L C6orf138_uc011dwn.1_Missense_Mutation_p.F224L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 477 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CCATGAAGGAGAAGGAGGCAT 0.418 3 74 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754844 49754844 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:49754844G>A uc003ozu.2 - 1 164 c.57C>T c.(55-57)GTC>GTT p.V19V NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 19 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CTCTCATGATGACTCGCTTCC 0.418 8 228 --- --- --- --- PASS DEFB110 245913 broad.mit.edu 37 6 49986831 49986831 + Missense_Mutation SNP C G G rs140171603 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:49986831C>G uc003pac.2 - 2 109 c.63G>C c.(61-63)AAG>AAC p.K21N DEFB110_uc011dwr.1_Intron NM_001037497 NP_001032586 Q30KQ9 DB110_HUMAN beta-defensin 110 isoform a 21 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) CAGGATATTTCTTTTTGGCTG 0.353 24 237 --- --- --- --- PASS TFAP2B 7021 broad.mit.edu 37 6 50791467 50791467 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:50791467G>C uc003pag.2 + 2 595 c.429G>C c.(427-429)TCG>TCC p.S143S NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 143 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) ACTACCACTCGGTCCGCCGGC 0.716 3 8 --- --- --- --- PASS TFAP2B 7021 broad.mit.edu 37 6 50791468 50791468 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:50791468G>A uc003pag.2 + 2 596 c.430G>A c.(430-432)GTC>ATC p.V144I NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 144 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) CTACCACTCGGTCCGCCGGCC 0.716 3 6 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51917955 51917955 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:51917955G>C uc003pah.1 - 21 2335 c.2059C>G c.(2059-2061)CAG>GAG p.Q687E PKHD1_uc003pai.2_Missense_Mutation_p.Q687E NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 687 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGGTTGATCTGATGAACCAGC 0.512 39 79 --- --- --- --- PASS GSTA1 2938 broad.mit.edu 37 6 52659012 52659012 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:52659012G>A uc003paz.2 - 5 437 c.325C>T c.(325-327)CTG>TTG p.L109L NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 109 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) CATACGGGCAGAAGGAGGATC 0.388 73 338 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 56044530 56044530 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:56044530C>G uc003pcs.2 - 3 718 c.486G>C c.(484-486)AAG>AAC p.K162N COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.K162N|COL21A1_uc003pcu.1_Missense_Mutation_p.K162N NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 162 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ATAATGTTATCTTACTATCTC 0.423 39 64 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56346973 56346973 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:56346973C>G uc003pdf.2 - 84 15077 c.15049G>C c.(15049-15051)GAG>CAG p.E5017Q DST_uc003pcz.3_Missense_Mutation_p.E4839Q|DST_uc011dxj.1_Missense_Mutation_p.E4868Q|DST_uc011dxk.1_Missense_Mutation_p.E4879Q|DST_uc003pcy.3_Missense_Mutation_p.E4513Q NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6925 Spectrin 20. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGAATTCCTCTGCCTAAGAG 0.483 13 53 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56497772 56497772 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:56497772C>T uc003pdf.2 - 27 3614 c.3586G>A c.(3586-3588)GAT>AAT p.D1196N DST_uc003pcz.3_Missense_Mutation_p.D1018N|DST_uc011dxj.1_Missense_Mutation_p.D1047N|DST_uc011dxk.1_Missense_Mutation_p.D1058N|DST_uc003pcy.3_Missense_Mutation_p.D692N|DST_uc003pdb.2_Missense_Mutation_p.D692N|DST_uc003pdc.3_Missense_Mutation_p.D692N|DST_uc003pdd.3_Missense_Mutation_p.D692N NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1018 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCAGAAAATCTTCAAAACGA 0.358 25 151 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64401664 64401664 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:64401664C>T uc003pep.1 + 4 2253 c.2227C>T c.(2227-2229)CAT>TAT p.H743Y PHF3_uc010kaf.1_Missense_Mutation_p.H743Y|PHF3_uc003pem.2_Missense_Mutation_p.H696Y|PHF3_uc010kag.1_Missense_Mutation_p.H655Y|PHF3_uc010kah.1_Missense_Mutation_p.H557Y|PHF3_uc003pen.2_Missense_Mutation_p.H655Y|PHF3_uc011dxs.1_Missense_Mutation_p.H12Y NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 743 PHD-type. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGACTGGTTTCATGGTGATTG 0.373 48 495 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64401686 64401686 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:64401686G>T uc003pep.1 + 4 2275 c.2249G>T c.(2248-2250)AGT>ATT p.S750I PHF3_uc010kaf.1_Missense_Mutation_p.S750I|PHF3_uc003pem.2_Missense_Mutation_p.S703I|PHF3_uc010kag.1_Missense_Mutation_p.S662I|PHF3_uc010kah.1_Missense_Mutation_p.S564I|PHF3_uc003pen.2_Missense_Mutation_p.S662I|PHF3_uc011dxs.1_Missense_Mutation_p.S19I NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 750 PHD-type. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GTTGGGTTAAGTCTTTCTCAA 0.388 62 449 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64408361 64408361 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:64408361G>T uc003pep.1 + 7 2874 c.2848G>T c.(2848-2850)GTA>TTA p.V950L PHF3_uc010kah.1_Missense_Mutation_p.V764L|PHF3_uc003pen.2_Missense_Mutation_p.V862L|PHF3_uc011dxs.1_Missense_Mutation_p.V219L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 950 TFIIS central. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAATTTGAAGGTACCAGAGGA 0.274 14 172 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70071177 70071177 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:70071177G>T uc003pev.3 + 29 4460 c.4012G>T c.(4012-4014)GAA>TAA p.E1338* BAI3_uc010kak.2_Nonsense_Mutation_p.E1338*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E544* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1338 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CTTGCCGCATGAAAGGCTATT 0.408 21 119 --- --- --- --- PASS KHDC1 80759 broad.mit.edu 37 6 73951780 73951780 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:73951780C>G uc003pgo.2 - 4 1013 c.512G>C c.(511-513)CGA>CCA p.R171P KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.R98P NM_030568 NP_085045 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 171 integral to membrane RNA binding skin(1) 1 ATACCTACCTCGAGCATGATG 0.517 4 62 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75814930 75814930 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:75814930C>A uc003phs.2 - 54 8423 c.8257G>T c.(8257-8259)GGC>TGC p.G2753C COL12A1_uc003pht.2_Missense_Mutation_p.G1589C NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2753 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ACTGCAGGGCCTGGAGGTCCT 0.388 15 87 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76715065 76715065 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:76715065C>T uc003pik.1 - 10 1204 c.1074G>A c.(1072-1074)CTG>CTA p.L358L NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 358 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTTTGCTGATCAGCCTTTTGA 0.403 42 269 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76715170 76715170 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:76715170C>T uc003pik.1 - 10 1099 c.969G>A c.(967-969)CTG>CTA p.L323L NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 323 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AATCAAAAGACAGGAGGTCAC 0.448 11 212 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83847593 83847593 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:83847593G>C uc003pjs.1 + 21 4092 c.3832G>C c.(3832-3834)GAA>CAA p.E1278Q DOPEY1_uc011dyy.1_Missense_Mutation_p.E1269Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E1269Q|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1278 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAAATTATCAGAAAAAGTTTC 0.363 14 94 --- --- --- --- PASS PRSS35 167681 broad.mit.edu 37 6 84233922 84233922 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:84233922C>G uc003pjz.2 + 2 925 c.762C>G c.(760-762)GTC>GTG p.V254V PRSS35_uc010kbm.2_Silent_p.V254V NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 254 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGACCCGGGTCAAGAATACCC 0.562 12 94 --- --- --- --- PASS RARS2 57038 broad.mit.edu 37 6 88240595 88240595 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:88240595G>C uc003pme.2 - 9 738 c.678C>G c.(676-678)TTC>TTG p.F226L RARS2_uc003pmb.2_Missense_Mutation_p.F51L|RARS2_uc003pmc.2_Missense_Mutation_p.F51L|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 226 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATCGTTGGAAGAACTCCTGTG 0.383 14 208 --- --- --- --- PASS UBE2J1 51465 broad.mit.edu 37 6 90039657 90039657 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:90039657G>A uc010kcb.2 - 9 871 c.698C>T c.(697-699)TCA>TTA p.S233L UBE2J1_uc003pnc.2_Missense_Mutation_p.S233L NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 233 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) GGATGCTGCTGAGGAATTCTG 0.433 8 157 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90380769 90380769 + Missense_Mutation SNP G A A rs139168257 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:90380769G>A uc003pnn.1 - 83 13941 c.13825C>T c.(13825-13827)CGC>TGC p.R4609C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4609 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) GGCACCAGGCGCACCAGCAAG 0.428 4 76 --- --- --- --- PASS GPR63 81491 broad.mit.edu 37 6 97246936 97246936 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:97246936G>A uc010kcl.2 - 3 1150 c.672C>T c.(670-672)TCC>TCT p.S224S GPR63_uc003pou.2_Silent_p.S224S NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 224 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GGGGAGCTCGGGAAGGTATCT 0.458 29 183 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100062341 100062341 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:100062341C>G uc003pqg.1 + 4 2091 c.1830C>G c.(1828-1830)TTC>TTG p.F610L NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 610 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) TGCGGCCCTTCGGCGACCCCA 0.617 12 49 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101296127 101296127 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:101296127G>A uc003pqk.2 - 4 1027 c.698C>T c.(697-699)TCA>TTA p.S233L ASCC3_uc011eai.1_Missense_Mutation_p.S135L|ASCC3_uc003pql.2_Missense_Mutation_p.S233L|ASCC3_uc010kcv.2_Missense_Mutation_p.S233L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTCAAAGTTGAATTTAGGTA 0.393 11 142 --- --- --- --- PASS SEC63 11231 broad.mit.edu 37 6 108225923 108225923 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:108225923G>A uc003psc.3 - 11 1233 c.964C>T c.(964-966)CAG>TAG p.Q322* SEC63_uc003psb.3_Nonsense_Mutation_p.Q182* NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 322 SEC63 1.|Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) ATGAATTGCTGATCTGCAAAA 0.363 102 182 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 110953259 110953259 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:110953259C>A uc003puh.1 - 6 693 c.620G>T c.(619-621)GGT>GTT p.G207V CDK19_uc003pui.1_Missense_Mutation_p.G147V|CDK19_uc011eax.1_Missense_Mutation_p.G83V NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 207 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 ATGCCTTGCACCAAGCAAAAG 0.358 35 144 --- --- --- --- PASS RFPL4B 442247 broad.mit.edu 37 6 112671663 112671663 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:112671663A>G uc003pvx.1 + 3 1065 c.753A>G c.(751-753)GGA>GGG p.G251G NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 251 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AGCTCTTGGGAGAAGGGGAGA 0.448 45 131 --- --- --- --- PASS NT5DC1 221294 broad.mit.edu 37 6 116565164 116565164 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:116565164G>C uc003pwj.2 + 12 1440 c.1345G>C c.(1345-1347)GAT>CAT p.D449H NT5DC1_uc003pwk.2_Missense_Mutation_p.D441H|NT5DC1_uc003pwl.2_Missense_Mutation_p.D399H NM_152729 NP_689942 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase, cytosolic II-like 1 protein 449 hydrolase activity|metal ion binding 0 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) CTTATCAAGTGATGAGACACT 0.333 17 88 --- --- --- --- PASS DSE 29940 broad.mit.edu 37 6 116758235 116758235 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:116758235G>A uc003pws.2 + 6 2798 c.2604G>A c.(2602-2604)GAG>GAA p.E868E DSE_uc011ebg.1_Silent_p.E887E|DSE_uc003pwt.2_Silent_p.E868E|DSE_uc003pwu.2_Silent_p.E535E NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 868 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TAACATACGAGAAACATAAAA 0.428 9 158 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117609813 117609813 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:117609813C>T uc003pxp.1 - 43 7085 c.6886G>A c.(6886-6888)GAA>AAA p.E2296K ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2296 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GATTCAGATTCCTGGGAGCCT 0.453 T GOPC|ROS1 glioblastoma|NSCLC 49 108 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117706937 117706937 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:117706937T>C uc003pxp.1 - 15 2412 c.2213A>G c.(2212-2214)GAG>GGG p.E738G ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 738 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGATAATTCTCTGAGATATC 0.458 T GOPC|ROS1 glioblastoma|NSCLC 26 162 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123600204 123600204 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:123600204G>A uc003pzj.1 - 25 1556 c.1534C>T c.(1534-1536)CCA>TCA p.P512S TRDN_uc010kem.1_Missense_Mutation_p.P13S NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 512 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) AACATACGTGGAGGTTTAGGC 0.249 13 76 --- --- --- --- PASS ECHDC1 55862 broad.mit.edu 37 6 127637624 127637624 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:127637624G>A uc003qax.2 - 4 441 c.405C>T c.(403-405)TTC>TTT p.F135F ECHDC1_uc003qaz.3_Silent_p.F129F|ECHDC1_uc010key.2_Silent_p.F54F|ECHDC1_uc003qay.3_Intron|ECHDC1_uc010kez.2_Intron|ECHDC1_uc010kex.2_Intron NM_001139510 NP_001132982 Q9NTX5 ECHD1_HUMAN enoyl Coenzyme A hydratase domain containing 1 135 catalytic activity 0 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) TGTTTTGCATGAACATGCATA 0.264 7 204 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128150625 128150625 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:128150625C>A uc003qbi.2 - 4 1024 c.705G>T c.(703-705)ATG>ATT p.M235I THEMIS_uc010kfa.2_Missense_Mutation_p.M138I|THEMIS_uc011ebt.1_Missense_Mutation_p.M235I|THEMIS_uc010kfb.2_Missense_Mutation_p.M200I NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 235 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 ACTCACATTTCATCACACCTT 0.373 25 126 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130392204 130392204 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:130392204G>T uc003qbt.2 + 13 1346 c.1176G>T c.(1174-1176)ACG>ACT p.T392T L3MBTL3_uc003qbu.2_Silent_p.T367T NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 392 MBT 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GTGTTGCTACGGTAACAGATA 0.418 84 431 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130466548 130466548 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:130466548T>C uc003qbv.2 - 12 1541 c.1215A>G c.(1213-1215)ACA>ACG p.T405T SAMD3_uc003qbx.2_Silent_p.T405T|SAMD3_uc003qbw.2_Silent_p.T405T NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 405 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GGAGTAAACATGTGGCTGTCA 0.368 16 38 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131186730 131186730 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:131186730T>C uc003qch.2 - 17 2957 c.2775A>G c.(2773-2775)GCA>GCG p.A925A EPB41L2_uc003qce.1_Silent_p.A303A|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Silent_p.A667A|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Silent_p.A772A|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.A86A NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 925 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGATGGTTTGTGCGGTCAGTA 0.458 55 102 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131225642 131225642 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:131225642G>A uc003qch.2 - 6 1074 c.892C>T c.(892-894)CCT>TCT p.P298S EPB41L2_uc003qcg.1_Missense_Mutation_p.P298S|EPB41L2_uc011eby.1_Missense_Mutation_p.P298S|EPB41L2_uc003qci.2_Missense_Mutation_p.P298S|EPB41L2_uc010kfk.2_Missense_Mutation_p.P298S|EPB41L2_uc010kfl.1_Missense_Mutation_p.P298S NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 298 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GGATCAGGAGGATAAAACTTC 0.328 26 128 --- --- --- --- PASS TAAR9 134860 broad.mit.edu 37 6 132859711 132859711 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:132859711G>T uc011eci.1 + 2 285 c.283G>T c.(283-285)GAG>TAG p.E95* NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 95 Extracellular (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GAGGTCTGTGGAGAGCTGTTG 0.448 40 162 --- --- --- --- PASS TAAR8 83551 broad.mit.edu 37 6 132874080 132874080 + Silent SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:132874080T>A uc011ecj.1 + 1 249 c.249T>A c.(247-249)ACT>ACA p.T83T NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 83 Helical; Name=2; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TAGGTGTGACTGTGATGCTTT 0.443 47 256 --- --- --- --- PASS TAAR2 9287 broad.mit.edu 37 6 132939116 132939116 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:132939116G>C uc003qdl.1 - 2 229 c.229C>G c.(229-231)CCA>GCA p.P77A TAAR2_uc010kfr.1_Missense_Mutation_p.P32A NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 77 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AAGTTGGTTGGTGTGTGAAGC 0.428 30 137 --- --- --- --- PASS C6orf192 116843 broad.mit.edu 37 6 133100505 133100505 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:133100505C>G uc003qdw.1 - 7 849 c.697G>C c.(697-699)GCT>CCT p.A233P C6orf192_uc010kgd.1_RNA|C6orf192_uc011eco.1_Missense_Mutation_p.A107P NM_052831 NP_439896 Q6NT16 CF192_HUMAN hypothetical protein LOC116843 233 Helical; (Potential). transmembrane transport integral to membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265) TTGGGTAAAGCGATCAGTTTC 0.373 57 153 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135769471 135769471 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:135769471G>A uc003qgi.2 - 12 1967 c.1583C>T c.(1582-1584)TCA>TTA p.S528L AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.S528L|AHI1_uc003qgj.2_Missense_Mutation_p.S528L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S528L NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 528 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTACAGTGTTGATGGGTAATG 0.383 10 76 --- --- --- --- PASS HECA 51696 broad.mit.edu 37 6 139487561 139487561 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:139487561G>C uc003qin.2 + 2 697 c.412G>C c.(412-414)GAG>CAG p.E138Q NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 138 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CTACGAGTGGGAGAGCAGCAT 0.602 16 131 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143092476 143092476 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:143092476C>A uc003qjd.2 - 5 4143 c.3400G>T c.(3400-3402)GAC>TAC p.D1134Y NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTCCCTGGGTCCTCTTGCTGA 0.642 40 83 --- --- --- --- PASS LTV1 84946 broad.mit.edu 37 6 144183253 144183253 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:144183253G>A uc003qjs.2 + 8 1043 c.936G>A c.(934-936)TTG>TTA p.L312L LTV1_uc003qju.1_Silent_p.L97L|C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank NM_032860 NP_116249 Q96GA3 LTV1_HUMAN LTV1 homolog 312 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) GTGTAAAATTGAATACCCTTG 0.373 42 88 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144835108 144835108 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:144835108C>G uc003qkt.2 + 35 5100 c.5008C>G c.(5008-5010)CAA>GAA p.Q1670E NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1670 Interaction with SYNM.|Spectrin 12. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGGCTTTATCAAGCTGAAGC 0.368 20 136 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144843120 144843120 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:144843120T>G uc003qkt.2 + 39 5638 c.5546T>G c.(5545-5547)ATC>AGC p.I1849S NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1849 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTGTAGGCAATCCCTATTCAA 0.299 8 191 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151121996 151121996 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:151121996C>G uc003qny.1 + 7 1083 c.771C>G c.(769-771)CTC>CTG p.L257L PLEKHG1_uc011eel.1_Silent_p.L297L|PLEKHG1_uc011eem.1_Silent_p.L316L|PLEKHG1_uc003qnz.2_Silent_p.L257L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 257 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGTATCATCTCCTTCTGCATG 0.453 18 177 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151161515 151161515 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:151161515C>G uc003qny.1 + 17 3953 c.3641C>G c.(3640-3642)TCA>TGA p.S1214* PLEKHG1_uc011eem.1_Nonsense_Mutation_p.S1273* NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1214 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CACAGAAGTTCAAGGTGTGAG 0.468 14 251 --- --- --- --- PASS ZBTB2 57621 broad.mit.edu 37 6 151686676 151686676 + Missense_Mutation SNP C T T rs143773461 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:151686676C>T uc003qoh.2 - 3 1660 c.1525G>A c.(1525-1527)GAA>AAA p.E509K NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E509K(1) skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) AAGACGGTTTCTTGTTCCTTT 0.443 49 249 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151936728 151936728 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:151936728A>G uc003qol.2 + 10 1950 c.1861A>G c.(1861-1863)AGG>GGG p.R621G NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 621 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GAATAAAGAAAGGGCCAGAAA 0.408 40 178 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152614876 152614876 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:152614876C>T uc010kiw.2 - 95 18461 c.17859G>A c.(17857-17859)GAG>GAA p.E5953E SYNE1_uc010kiv.2_Silent_p.E477E|SYNE1_uc003qos.3_Silent_p.E477E|SYNE1_uc003qot.3_Silent_p.E5882E|SYNE1_uc003qou.3_Silent_p.E5953E|SYNE1_uc010kiy.1_Silent_p.E128E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5953 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCGCTGCTTCTCACTGATCT 0.473 HNSCC(10;0.0054) 82 152 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152697651 152697651 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:152697651C>A uc010kiw.2 - 58 9791 c.9189G>T c.(9187-9189)CAG>CAT p.Q3063H SYNE1_uc003qot.3_Missense_Mutation_p.Q3070H|SYNE1_uc003qou.3_Missense_Mutation_p.Q3063H|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.Q141H|SYNE1_uc010kjb.1_3'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3063 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTGTAAAATCTGTTCTTTAT 0.383 HNSCC(10;0.0054) 51 78 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152831423 152831423 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:152831423C>T uc010kiw.2 - 8 1088 c.486G>A c.(484-486)GAG>GAA p.E162E SYNE1_uc003qot.3_Silent_p.E169E|SYNE1_uc003qou.3_Silent_p.E162E|SYNE1_uc010kjb.1_Silent_p.E162E|SYNE1_uc003qpa.1_Silent_p.E162E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 162 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGCTGGGAGTCTCAGAGCTAA 0.493 HNSCC(10;0.0054) 50 229 --- --- --- --- PASS CLDN20 49861 broad.mit.edu 37 6 155597295 155597295 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:155597295C>T uc003qql.1 + 2 822 c.442C>T c.(442-444)CTG>TTG p.L148L TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron NM_001001346 NP_001001346 P56880 CLD20_HUMAN claudin 20 148 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114) AGCAAACTTTCTGGATCTGAC 0.423 8 164 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157511333 157511333 + Missense_Mutation SNP G T T rs149389876 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:157511333G>T uc003qqn.2 + 15 3949 c.3797G>T c.(3796-3798)GGA>GTA p.G1266V ARID1B_uc003qqo.2_Missense_Mutation_p.G1226V|ARID1B_uc003qqp.2_Missense_Mutation_p.G1213V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1271 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCCTTTGGGGGAATGAGAAAA 0.562 4 137 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157527676 157527676 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:157527676G>C uc003qqn.2 + 20 5499 c.5347G>C c.(5347-5349)GAC>CAC p.D1783H ARID1B_uc003qqo.2_Missense_Mutation_p.D1743H|ARID1B_uc003qqp.2_Missense_Mutation_p.D1730H NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1788 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTTTGTTGTTGACCGATCTGA 0.537 134 349 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160469408 160469408 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:160469408C>G uc003qta.2 + 18 2495 c.2347C>G c.(2347-2349)CTG>GTG p.L783V NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 783 5.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AAATTTTAGTCTGGCAAAATC 0.393 7 126 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715321 165715321 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr6:165715321G>C uc003qum.3 - 2 526 c.490C>G c.(490-492)CCT>GCT p.P164A C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 164 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCCCGTCCAGGAGGGCCTCCT 0.617 46 108 --- --- --- --- PASS PRKAR1B 5575 broad.mit.edu 37 7 590102 590102 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:590102G>T uc003siu.1 - 12 1217 c.1111C>A c.(1111-1113)CAG>AAG p.Q371K PRKAR1B_uc003siv.2_Missense_Mutation_p.Q371K|PRKAR1B_uc003siw.1_Missense_Mutation_p.Q371K NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 371 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) TTGTAACGCTGAATGTTCCTC 0.652 10 17 --- --- --- --- PASS C7orf50 84310 broad.mit.edu 37 7 1040111 1040111 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:1040111C>A uc003sju.2 - 4 470 c.400G>T c.(400-402)GAC>TAC p.D134Y C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.D134Y|C7orf50_uc011jvu.1_Missense_Mutation_p.D134Y NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 134 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) CACACCTTGTCACTGTCATAC 0.612 12 23 --- --- --- --- PASS CHST12 55501 broad.mit.edu 37 7 2472883 2472883 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:2472883G>A uc003smc.2 + 2 744 c.609G>A c.(607-609)CCG>CCA p.P203P CHST12_uc003smd.2_Silent_p.P203P NM_018641 NP_061111 Q9NRB3 CHSTC_HUMAN carbohydrate sulfotransferase 12 203 Lumenal (Potential). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding kidney(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TGCGCATCCCGCGCGAGCACG 0.657 35 68 --- --- --- --- PASS GNA12 2768 broad.mit.edu 37 7 2771177 2771177 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:2771177T>G uc003smu.2 - 4 948 c.784A>C c.(784-786)ATG>CTG p.M262L GNA12_uc011jwb.1_Missense_Mutation_p.M245L|GNA12_uc003smt.2_Missense_Mutation_p.M203L NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 262 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) CTGTCCTCCATGAGGACCTGG 0.577 82 243 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11485806 11485806 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:11485806C>A uc003ssf.3 - 13 3198 c.2946G>T c.(2944-2946)TTG>TTT p.L982F NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 982 TSP type-1 10.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCATTCCCAGCAACACTTCCA 0.443 HNSCC(18;0.044) 16 310 --- --- --- --- PASS KLHL7 55975 broad.mit.edu 37 7 23163419 23163419 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:23163419C>T uc003svs.3 + 2 437 c.144C>T c.(142-144)CTC>CTT p.L48L KLHL7_uc003svr.3_Silent_p.L26L|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_5'UTR|KLHL7_uc003svp.2_Silent_p.L26L|KLHL7_uc003svq.2_Silent_p.L48L|KLHL7_uc011jyu.1_Silent_p.L26L NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 48 BTB. Golgi apparatus|nucleolus|plasma membrane 0 ACGTGATCCTCATGGTCCAGG 0.368 8 123 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23854829 23854829 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:23854829C>G uc003sws.3 + 23 2894 c.2827C>G c.(2827-2829)CTG>GTG p.L943V STK31_uc003swt.3_Missense_Mutation_p.L920V|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Missense_Mutation_p.L920V|STK31_uc003swv.1_Missense_Mutation_p.L109V NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 943 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TCAGTTTCATCTGGTATGTGA 0.338 4 97 --- --- --- --- PASS SNX10 29887 broad.mit.edu 37 7 26411513 26411513 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:26411513A>T uc003sxx.2 + 6 599 c.384A>T c.(382-384)GAA>GAT p.E128D SNX10_uc011jzg.1_Missense_Mutation_p.E151D|SNX10_uc010kuu.2_Missense_Mutation_p.E128D|SNX10_uc010kuv.2_Missense_Mutation_p.E124D|SNX10_uc010kuw.2_Missense_Mutation_p.E44D NM_013322 NP_037454 Q9Y5X0 SNX10_HUMAN sorting nexin 10 128 cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding 0 TGAATTCAGAAGACATTGAGG 0.383 155 139 --- --- --- --- PASS HOXA3 3200 broad.mit.edu 37 7 27148056 27148056 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:27148056G>A uc011jzl.1 - 3 1010 c.810C>T c.(808-810)CCC>CCT p.P270P HOXA3_uc011jzk.1_Silent_p.P112P|HOXA3_uc003syk.2_Silent_p.P270P NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 270 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 CGGCTCCGGGGGGCACGGGGC 0.617 70 74 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29407588 29407588 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:29407588C>G uc003szz.2 + 3 566 c.129C>G c.(127-129)ATC>ATG p.I43M CHN2_uc011jzs.1_Missense_Mutation_p.I118M|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.I56M|CHN2_uc010kvd.2_Missense_Mutation_p.I43M|CHN2_uc011jzu.1_Missense_Mutation_p.I28M NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 43 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CCAAGAGAATCATTTGTCCTC 0.403 7 104 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30890105 30890105 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:30890105G>A uc003tbt.2 + 10 1558 c.1481G>A c.(1480-1482)TGC>TAC p.C494Y FAM188B_uc010kwe.2_Missense_Mutation_p.C465Y|AQP1_uc011kac.1_5'Flank NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 494 0 CGGACCCGCTGCCTCGTCCTG 0.602 4 30 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34125511 34125511 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:34125511G>C uc011kap.1 + 13 1666 c.1552G>C c.(1552-1554)GAT>CAT p.D518H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 518 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CTTCAAGTTTGATGTGGATGA 0.483 12 107 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40102671 40102671 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:40102671C>G uc003thh.3 + 9 3034 c.2752C>G c.(2752-2754)CAG>GAG p.Q918E CDK13_uc003thi.3_Missense_Mutation_p.Q918E|CDK13_uc011kbf.1_Missense_Mutation_p.Q304E|CDK13_uc003thj.2_Translation_Start_Site NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 918 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TCAAGCAAATCAGGAACTTGC 0.353 61 82 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40134200 40134200 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:40134200C>T uc003thh.3 + 14 4442 c.4160C>T c.(4159-4161)TCT>TTT p.S1387F CDK13_uc003thi.3_Missense_Mutation_p.S1327F|CDK13_uc003thj.2_Missense_Mutation_p.S438F|CDK13_uc003thk.2_Missense_Mutation_p.S320F NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1387 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TCATCTCATTCTGGTGGTCCA 0.443 191 260 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45688386 45688386 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:45688386G>A uc003tne.3 + 5 1156 c.1138G>A c.(1138-1140)GAT>AAT p.D380N ADCY1_uc003tnd.2_Missense_Mutation_p.D155N NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 380 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGACATGATTGATACCATCAC 0.567 4 70 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47840425 47840425 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:47840425A>C uc003tny.1 - 54 8015 c.8015T>G c.(8014-8016)CTC>CGC p.L2672R C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2672 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CCACATAGAGAGCAGAAATCG 0.552 23 137 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55220237 55220237 + Splice_Site SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:55220237A>G uc003tqk.2 + 6 875 c.629_splice c.e6-2 p.L210_splice EGFR_uc003tqh.2_Splice_Site_p.L210_splice|EGFR_uc003tqi.2_Splice_Site_p.L210_splice|EGFR_uc003tqj.2_Splice_Site_p.L210_splice|EGFR_uc010kzg.1_Splice_Site_p.L165_splice|EGFR_uc011kco.1_Splice_Site_p.L157_splice|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCTCTTTTTCAGTGACCAAAA 0.547 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 32 754 --- --- --- --- PASS SUMF2 25870 broad.mit.edu 37 7 56142379 56142379 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:56142379G>C uc003trv.2 + 5 573 c.542G>C c.(541-543)CGA>CCA p.R181P PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_Intron|SUMF2_uc011kcw.1_Missense_Mutation_p.R181P|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Missense_Mutation_p.R74P|SUMF2_uc011kcy.1_Missense_Mutation_p.R166P|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 162 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CGGGGAAAACGACTGCCCACG 0.587 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 371 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188291 57188291 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:57188291G>T uc010kzo.2 - 5 1102 c.831C>A c.(829-831)GCC>GCA p.A277A NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 277 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AGCGCCTAAAGGCTTGGCCAC 0.453 34 132 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188292 57188292 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:57188292G>T uc010kzo.2 - 5 1101 c.830C>A c.(829-831)GCC>GAC p.A277D NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 277 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GCGCCTAAAGGCTTGGCCACA 0.458 34 129 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64167219 64167219 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:64167219G>A uc003ttd.2 + 7 1323 c.537G>A c.(535-537)AAG>AAA p.K179K ZNF107_uc003tte.2_Silent_p.K179K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 179 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CTAGGCATAAGATAATTCATA 0.373 7 128 --- --- --- --- PASS KCTD7 154881 broad.mit.edu 37 7 66104107 66104107 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:66104107C>T uc003tve.2 + 4 920 c.758C>T c.(757-759)TCG>TTG p.S253L RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.S253L NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN potassium channel tetramerisation domain 253 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|central_nervous_system(1) 3 ACGGACCTCTCGGCCCAGGGT 0.567 20 214 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72416716 72416716 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:72416716G>C uc003twj.2 + 15 3875 c.2898G>C c.(2896-2898)AAG>AAC p.K966N POM121_uc010lam.1_Intron NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1231 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CGGGATCCAAGACCCCAGGGG 0.582 13 87 --- --- --- --- PASS POM121C 100101267 broad.mit.edu 37 7 75066877 75066877 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:75066877C>G uc010lde.1 - 5 1122 c.1122G>C c.(1120-1122)TTG>TTC p.L374F POM121C_uc003udk.3_Missense_Mutation_p.L132F A8CG34 P121C_HUMAN Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds. 374 Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 AAGCGCCTGTCAAGGAGCTCA 0.507 67 471 --- --- --- --- PASS POR 5447 broad.mit.edu 37 7 75608797 75608797 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:75608797C>G uc003udy.2 + 4 348 c.266C>G c.(265-267)TCC>TGC p.S89C POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 86 Flavodoxin-like. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) TTCTACGGCTCCCAGACGGGG 0.627 11 24 --- --- --- --- PASS CCDC146 57639 broad.mit.edu 37 7 76871150 76871150 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:76871150C>G uc003uga.2 + 4 509 c.382C>G c.(382-384)CTC>GTC p.L128V NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 128 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGAACAACTTCTCAAGTATCA 0.398 20 235 --- --- --- --- PASS RSBN1L 222194 broad.mit.edu 37 7 77408043 77408043 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:77408043C>T uc010ldt.1 + 8 2143 c.2099C>T c.(2098-2100)TCT>TTT p.S700F RSBN1L_uc003ugm.2_Missense_Mutation_p.S482F NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 700 nucleus ovary(1) 1 GAGGACACTTCTCAGAATACA 0.418 13 427 --- --- --- --- PASS CD36 948 broad.mit.edu 37 7 80300319 80300319 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:80300319A>C uc003uhc.2 + 13 1529 c.845A>C c.(844-846)GAC>GCC p.D282A CD36_uc003uhd.3_Missense_Mutation_p.D282A|CD36_uc011kgv.1_Missense_Mutation_p.D206A|CD36_uc003uhe.3_Missense_Mutation_p.D282A|CD36_uc003uhf.3_Missense_Mutation_p.D282A|CD36_uc003uhg.3_Missense_Mutation_p.D282A|CD36_uc003uhh.3_Missense_Mutation_p.D282A NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 282 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 TTTGAATCCGACGTTAATCTG 0.383 227 344 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80387646 80387646 + Splice_Site SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:80387646C>T uc003uhj.2 - 15 2205 c.1643_splice c.e15+1 p.R548_splice SEMA3C_uc011kgw.1_Splice_Site_p.R566_splice NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor immune response|response to drug membrane receptor activity ovary(1) 1 TTAGTGCTCACCGTTTCCCAG 0.473 15 221 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82453631 82453631 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:82453631G>A uc003uhx.2 - 19 14806 c.14517C>T c.(14515-14517)TCC>TCT p.S4839S PCLO_uc003uhv.2_Silent_p.S4839S|PCLO_uc003uht.1_Silent_p.S281S|PCLO_uc003uhu.1_Silent_p.S260S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4701 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGCTCTGACTGGAATGAGACT 0.423 12 65 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82580618 82580618 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:82580618G>C uc003uhx.2 - 6 9575 c.9286C>G c.(9286-9288)CCA>GCA p.P3096A PCLO_uc003uhv.2_Missense_Mutation_p.P3096A|PCLO_uc010lec.2_Missense_Mutation_p.P61A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3027 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGGGTGTTGGAGTTGCTACT 0.473 3 47 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82785233 82785233 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:82785233G>C uc003uhx.2 - 2 1013 c.724C>G c.(724-726)CAA>GAA p.Q242E PCLO_uc003uhv.2_Missense_Mutation_p.Q242E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 242 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCTGGTTGTTGAGAAGATATT 0.478 3 115 --- --- --- --- PASS KIAA1324L 222223 broad.mit.edu 37 7 86539300 86539300 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:86539300G>A uc011kha.1 - 16 2372 c.2187C>T c.(2185-2187)CTC>CTT p.L729L KIAA1324L_uc003uif.1_Silent_p.L489L|KIAA1324L_uc011kgz.1_Silent_p.L615L|KIAA1324L_uc003uie.2_Silent_p.L562L NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 729 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TGTTGGTACAGAGAGCCATCT 0.363 9 140 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 86990850 86990850 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:86990850C>T uc003uit.2 + 5 630 c.385C>T c.(385-387)CTT>TTT p.L129F CROT_uc003uiu.2_Missense_Mutation_p.L157F NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 129 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AAGTATAACTCTTTGGCATAA 0.413 11 203 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87174204 87174204 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:87174204A>T uc003uiz.1 - 17 2417 c.1999T>A c.(1999-2001)TCA>ACA p.S667T ABCB1_uc011khc.1_Missense_Mutation_p.S603T NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 667 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTACGAGTTGATCTTTTTCTT 0.393 7 290 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87190643 87190643 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:87190643C>G uc003uiz.1 - 9 1181 c.763G>C c.(763-765)GAA>CAA p.E255Q ABCB1_uc011khc.1_Missense_Mutation_p.E191Q NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 255 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAGACCTCTTCAGCTACTGCT 0.328 19 88 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87195509 87195509 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:87195509G>C uc003uiz.1 - 8 997 c.579C>G c.(577-579)TTC>TTG p.F193L ABCB1_uc011khc.1_Missense_Mutation_p.F129L NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 193 Helical; (Potential).|ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTGACTGAAAGAACATTCCAA 0.368 41 162 --- --- --- --- PASS SLC25A40 55972 broad.mit.edu 37 7 87470972 87470972 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:87470972G>C uc003uje.2 - 10 1150 c.799C>G c.(799-801)CTT>GTT p.L267V NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 267 Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) TATGTCCAAAGTTGTGTCTGC 0.264 6 29 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963232 88963232 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:88963232G>C uc011khi.1 + 4 1474 c.936G>C c.(934-936)GAG>GAC p.E312D NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 312 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTATTGATGAGACACTAGAAG 0.343 HNSCC(36;0.09) 10 116 --- --- --- --- PASS CLDN12 9069 broad.mit.edu 37 7 90042442 90042442 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:90042442C>G uc003ukp.2 + 5 1088 c.452C>G c.(451-453)TCT>TGT p.S151C CLDN12_uc003ukq.2_Missense_Mutation_p.S151C|CLDN12_uc010leq.2_Missense_Mutation_p.S151C|CLDN12_uc003ukr.2_Missense_Mutation_p.S151C|CLDN12_uc003uks.2_Missense_Mutation_p.S151C NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 151 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTCTCCCCATCTATCTGGGTC 0.483 21 383 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91736685 91736685 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:91736685G>T uc003ulg.2 + 48 11720 c.11495G>T c.(11494-11496)CGC>CTC p.R3832L AKAP9_uc003ulf.2_Missense_Mutation_p.R3824L|AKAP9_uc003uli.2_Missense_Mutation_p.R3455L|AKAP9_uc003ulj.2_Missense_Mutation_p.R1602L|AKAP9_uc003ull.2_Missense_Mutation_p.R728L NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3836 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTACGTATCGCTCAAGATCA 0.363 T BRAF papillary thyroid 5 249 --- --- --- --- PASS CYP51A1 1595 broad.mit.edu 37 7 91755662 91755662 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:91755662G>C uc003ulm.3 - 5 837 c.675C>G c.(673-675)CTC>CTG p.L225L CYP51A1_uc011khn.1_Silent_p.L120L|CYP51A1_uc003uln.3_Silent_p.L162L NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 219 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CCTTTTCATTGAGTTGACTTC 0.423 27 62 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92764686 92764686 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:92764686T>A uc003umh.1 - 5 1815 c.599A>T c.(598-600)AAA>ATA p.K200I SAMD9L_uc003umj.1_Missense_Mutation_p.K200I|SAMD9L_uc003umi.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfb.1_Missense_Mutation_p.K200I|SAMD9L_uc003umk.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfc.1_Missense_Mutation_p.K200I|SAMD9L_uc010lfd.1_Missense_Mutation_p.K200I|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 200 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGTGAGAGCTTTGAACTCATG 0.413 112 261 --- --- --- --- PASS NPTX2 4885 broad.mit.edu 37 7 98254457 98254457 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:98254457C>T uc003upl.2 + 3 1044 c.867C>T c.(865-867)ATC>ATT p.I289I NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 289 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACAACCCCATCGAGCTGCTCA 0.662 12 103 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98554094 98554094 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:98554094C>A uc003upp.2 + 42 6357 c.6148C>A c.(6148-6150)CTG>ATG p.L2050M TRRAP_uc011kis.1_Missense_Mutation_p.L2032M|TRRAP_uc003upr.2_Missense_Mutation_p.L1749M NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2050 Interaction with TP53.|Bipartite nuclear localization signal (Potential). histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAAGAGAGGCCTGTCCGTGGA 0.502 4 231 --- --- --- --- PASS CYP3A5 1577 broad.mit.edu 37 7 99250244 99250244 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:99250244C>T uc003urq.2 - 11 1272 c.1185G>A c.(1183-1185)GTG>GTA p.V395V ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.V215V|CYP3A5_uc003urr.2_Silent_p.V282V|CYP3A5_uc011kiy.1_Silent_p.V385V|CYP3A5_uc003urs.2_Silent_p.V43V|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 395 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) AAGTTGGAATCACCACCATTG 0.458 50 162 --- --- --- --- PASS MBLAC1 255374 broad.mit.edu 37 7 99725743 99725743 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:99725743C>T uc003utp.2 + 2 1124 c.725C>T c.(724-726)TCG>TTG p.S242L NM_203397 NP_981942 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 242 hydrolase activity|metal ion binding breast(1) 1 AGGGAAGCCTCGCAGCCCGAG 0.677 7 16 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99780374 99780374 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:99780374G>A uc003utx.1 + 4 403 c.248G>A c.(247-249)CGA>CAA p.R83Q STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.R83Q NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 83 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAGGGTCCCGAGTGGTACAT 0.403 23 455 --- --- --- --- PASS GATS 352954 broad.mit.edu 37 7 99869507 99869507 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:99869507A>T uc003uua.3 - 1 349 c.100T>A c.(100-102)TCA>ACA p.S34T GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA NM_178831 NP_849153 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand 34 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCGTAGGTGAACAGCGGGAT 0.667 24 55 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100606800 100606800 + RNA SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:100606800G>A uc003uxk.1 + 3 c.2274G>A uc003uxl.1_Silent_p.L530L|uc010lhn.1_5'Flank Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. TCCTGTCCCTGAGGTAGGAGA 0.498 12 12 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104752711 104752711 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:104752711C>T uc003vcm.2 + 27 5042 c.4508C>T c.(4507-4509)GCA>GTA p.A1503V MLL5_uc010ljc.2_Missense_Mutation_p.A1503V|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A237V NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1503 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 TATCCAGCAGCACAGAACCTT 0.463 11 71 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106513217 106513217 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:106513217A>T uc003vdv.3 + 4 2206 c.2121A>T c.(2119-2121)AGA>AGT p.R707S PIK3CG_uc003vdu.2_Missense_Mutation_p.R707S|PIK3CG_uc003vdw.2_Missense_Mutation_p.R707S NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 707 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CCCAGTCCAGACACTATCAGC 0.443 50 106 --- --- --- --- PASS ASZ1 136991 broad.mit.edu 37 7 117003719 117003719 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:117003719C>T uc003vjb.2 - 13 1422 c.1359G>A c.(1357-1359)AGG>AGA p.R453R ASZ1_uc011kno.1_Silent_p.R444R|ASZ1_uc011knp.1_Silent_p.R245R NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 453 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TAATAGCTGTCCTCTTCAAAA 0.313 49 103 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117175451 117175451 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:117175451G>A uc003vjd.2 + 6 861 c.729G>A c.(727-729)ATG>ATA p.M243I CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 243 Cytoplasmic (Potential).|ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TAGGGAGAATGATGATGAAGT 0.423 Cystic_Fibrosis 9 210 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121652898 121652898 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:121652898T>C uc003vjy.2 + 12 4193 c.3798T>C c.(3796-3798)AGT>AGC p.S1266S PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1266 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CCTATGCAAGTGAGAAATATG 0.398 55 223 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121756770 121756770 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:121756770G>C uc003vka.2 - 7 907 c.811C>G c.(811-813)CTT>GTT p.L271V AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L271V|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 271 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TTCCTGACAAGATGATGATGA 0.373 20 109 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122765725 122765725 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:122765725G>A uc003vkm.2 - 11 1163 c.1138C>T c.(1138-1140)CCT>TCT p.P380S SLC13A1_uc010lks.2_Missense_Mutation_p.P256S NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 380 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) GCAAAACCAGGGTACCTGTAA 0.338 44 219 --- --- --- --- PASS HYAL4 23553 broad.mit.edu 37 7 123509056 123509056 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:123509056G>A uc003vlc.2 + 3 1367 c.729G>A c.(727-729)TTG>TTA p.L243L HYAL4_uc011knz.1_Silent_p.L243L NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 243 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 ACGAAGTCTTGAGGAACAATG 0.448 4 160 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127254951 127254951 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:127254951G>T uc010lld.1 - 2 525 c.319C>A c.(319-321)CAG>AAG p.Q107K PAX4_uc003vmf.2_Missense_Mutation_p.Q105K|PAX4_uc003vmg.1_Missense_Mutation_p.Q107K|PAX4_uc003vmh.2_Missense_Mutation_p.Q105K NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 115 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTCTTGTCCTGGGTGCAAAGC 0.552 23 80 --- --- --- --- PASS EXOC4 60412 broad.mit.edu 37 7 133622811 133622811 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:133622811C>T uc003vrk.2 + 14 2230 c.2195C>T c.(2194-2196)TCT>TTT p.S732F EXOC4_uc011kpo.1_Missense_Mutation_p.S631F|EXOC4_uc003vrl.2_Missense_Mutation_p.S342F|EXOC4_uc011kpp.1_Missense_Mutation_p.S264F|EXOC4_uc011kpq.1_Missense_Mutation_p.S20F NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 732 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) TCCAATCTTTCTACATCCCAG 0.463 20 116 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133812168 133812168 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:133812168C>A uc003vrm.1 + 1 64 c.48C>A c.(46-48)CTC>CTA p.L16L NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 16 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CTGCCTCTCTCCTGAGAGGCT 0.597 32 118 --- --- --- --- PASS AKR1B10 57016 broad.mit.edu 37 7 134221806 134221806 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:134221806G>C uc003vrr.2 + 6 876 c.556G>C c.(556-558)GAG>CAG p.E186Q NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 186 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 GTTGCAGGTTGAGTGTCACCC 0.527 31 60 --- --- --- --- PASS ATP6V0A4 50617 broad.mit.edu 37 7 138447711 138447711 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:138447711C>G uc003vuf.2 - 5 589 c.351G>C c.(349-351)TTG>TTC p.L117F ATP6V0A4_uc003vug.2_Missense_Mutation_p.L117F|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L117F NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 117 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 AGCTTTGTTTCAAGGCCTGCT 0.463 49 200 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141740571 141740571 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:141740571G>T uc003vwy.2 + 21 2477 c.2423G>T c.(2422-2424)GGA>GTA p.G808V NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 808 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAACTTCCTGGAGACAAAATT 0.483 27 45 --- --- --- --- PASS CASP2 835 broad.mit.edu 37 7 143000960 143000960 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:143000960G>T uc003wco.2 + 9 1198 c.1051G>T c.(1051-1053)GAA>TAA p.E351* CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Nonsense_Mutation_p.E235*|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Nonsense_Mutation_p.E101* NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 351 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) TGCCGGTAAAGAAAAGTTGCC 0.488 16 30 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146805423 146805423 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:146805423G>A uc003weu.1 + 5 1251 c.735G>A c.(733-735)CTG>CTA p.L245L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 245 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAGCCAAGCTGGTCCTCAGTT 0.398 HNSCC(39;0.1) 11 72 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149418625 149418625 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:149418625C>T uc003wfz.2 + 5 864 c.465C>T c.(463-465)ATC>ATT p.I155I KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 155 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTCTCCCCATCAGTGAGTCTG 0.602 7 22 --- --- --- --- PASS ZNF467 168544 broad.mit.edu 37 7 149467534 149467534 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:149467534C>G uc003wgd.2 - 3 287 c.146G>C c.(145-147)TGC>TCC p.C49S ZNF467_uc003wgc.2_Missense_Mutation_p.C49S NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTACCTGAGCACACCCCCAG 0.428 6 122 --- --- --- --- PASS RARRES2 5919 broad.mit.edu 37 7 150037244 150037244 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:150037244G>C uc003wha.2 - 3 341 c.224C>G c.(223-225)ACA>AGA p.T75R RARRES2_uc010lpp.1_Missense_Mutation_p.T75R NM_002889 NP_002880 Q99969 RARR2_HUMAN chemerin preproprotein 75 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) CCGGCAGCTTGTCTGCTGCAG 0.587 13 708 --- --- --- --- PASS GIMAP7 168537 broad.mit.edu 37 7 150217087 150217087 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:150217087C>T uc003whk.2 + 2 155 c.25C>T c.(25-27)CTG>TTG p.L9L NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 9 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGACCGCTCCCTGAGGATCGT 0.502 44 84 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151921142 151921142 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:151921142T>C uc003wla.2 - 20 3500 c.3281A>G c.(3280-3282)TAT>TGT p.Y1094C MLL3_uc003wkz.2_Missense_Mutation_p.Y155C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1094 PHD-type 6. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTCTTCTCTATAGTTTCGATA 0.373 N medulloblastoma 35 93 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157396756 157396756 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:157396756G>A uc003wno.2 - 16 2477 c.2356C>T c.(2356-2358)CGG>TGG p.R786W PTPRN2_uc003wnp.2_Missense_Mutation_p.R769W|PTPRN2_uc003wnq.2_Missense_Mutation_p.R757W|PTPRN2_uc003wnr.2_Missense_Mutation_p.R748W|PTPRN2_uc011kwa.1_Missense_Mutation_p.R809W NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 786 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGCAGGACCCGGGAGTGGTCA 0.642 29 52 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157985113 157985113 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr7:157985113C>T uc003wno.2 - 5 576 c.455G>A c.(454-456)CGA>CAA p.R152Q PTPRN2_uc003wnp.2_Missense_Mutation_p.R135Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.R152Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.R114Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.R175Q NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 152 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CAGGTGGCGTCGGAGGGCGTT 0.652 31 50 --- --- --- --- PASS FBXO25 26260 broad.mit.edu 37 8 401300 401300 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:401300C>G uc003wox.2 + 7 773 c.507C>G c.(505-507)ATC>ATG p.I169M FBXO25_uc003woy.2_Missense_Mutation_p.I169M|FBXO25_uc003woz.2_Missense_Mutation_p.I102M|FBXO25_uc003wpa.2_Translation_Start_Site NM_183421 NP_904357 Q8TCJ0 FBX25_HUMAN F-box only protein 25 isoform 1 169 nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity lung(1) 1 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CTCGCTTAATCAAAGATCTTC 0.353 38 130 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2966125 2966125 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:2966125C>G uc011kwk.1 - 44 7147 c.6757G>C c.(6757-6759)GCA>CCA p.A2253P CSMD1_uc011kwj.1_Missense_Mutation_p.A1645P|CSMD1_uc010lrg.2_Missense_Mutation_p.A321P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2253 Extracellular (Potential).|CUB 13. 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) ATCAACTGACCGTGGAAATTG 0.473 4 24 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 4495078 4495078 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:4495078G>A uc011kwk.1 - 2 478 c.88C>T c.(88-90)CAG>TAG p.Q30* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 30 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) CCACAGTTCTGACCTGGAAGA 0.403 7 66 --- --- --- --- PASS ANGPT2 285 broad.mit.edu 37 8 6378765 6378765 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:6378765G>A uc003wqj.3 - 4 1062 c.733C>T c.(733-735)CAG>TAG p.Q245* MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Nonsense_Mutation_p.Q245*|ANGPT2_uc010lri.2_Nonsense_Mutation_p.Q193*|ANGPT2_uc003wql.3_Nonsense_Mutation_p.Q245* NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 245 Potential. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TGCTGCTTCTGAAGAACTGAA 0.358 16 158 --- --- --- --- PASS RHOBTB2 23221 broad.mit.edu 37 8 22874894 22874894 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:22874894G>A uc003xcq.2 + 10 2633 c.2096G>A c.(2095-2097)CGG>CAG p.R699Q RHOBTB2_uc003xcp.2_Missense_Mutation_p.R721Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R706Q|uc003xcr.2_Intron NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 699 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAGCCCAAACGGCGTTGGCTC 0.448 11 43 --- --- --- --- PASS LOXL2 4017 broad.mit.edu 37 8 23225700 23225700 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:23225700C>A uc003xdh.1 - 2 504 c.165G>T c.(163-165)AAG>AAT p.K55N NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 55 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GCAGCTGAATCTTGGCCACGT 0.627 4 77 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24304766 24304766 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:24304766T>G uc003xeb.2 + 3 337 c.224T>G c.(223-225)CTA>CGA p.L75R ADAM7_uc003xea.1_Missense_Mutation_p.L75R NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 75 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTTCATCTTCTAAGATCCAGG 0.328 66 91 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25224446 25224446 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:25224446G>C uc003xeg.2 + 31 3321 c.3184G>C c.(3184-3186)GAA>CAA p.E1062Q DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E776Q|DOCK5_uc003xei.2_Missense_Mutation_p.E632Q|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1062 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CCTTCAGCTTGAAACCTTCTC 0.383 26 50 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52258506 52258506 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:52258506G>T uc003xqu.3 - 20 4004 c.3903C>A c.(3901-3903)GAC>GAA p.D1301E PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1301 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TACTCCTACAGTCTGTGGGGA 0.433 42 90 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541405 55541405 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:55541405C>T uc003xsd.1 + 4 5111 c.4963C>T c.(4963-4965)CAG>TAG p.Q1655* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1655 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCGCAAATCTCAGGTTTGTCC 0.373 72 383 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62556543 62556543 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:62556543G>A uc003xuj.2 - 8 939 c.670C>T c.(670-672)CAG>TAG p.Q224* ASPH_uc011leg.1_Nonsense_Mutation_p.Q195*|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Nonsense_Mutation_p.Q210*|ASPH_uc011lei.1_Nonsense_Mutation_p.Q210*|ASPH_uc011lej.1_Nonsense_Mutation_p.Q167*|ASPH_uc003xun.2_Nonsense_Mutation_p.Q181*|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Nonsense_Mutation_p.Q224* NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 224 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TCCATATCCTGATTACAGTCT 0.333 23 56 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67547206 67547206 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:67547206T>C uc003xwn.2 - 3 3458 c.3199A>G c.(3199-3201)ACA>GCA p.T1067A NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1067 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) GAAGGCTCTGTTTTAGTGGAA 0.423 86 238 --- --- --- --- PASS C8orf44 56260 broad.mit.edu 37 8 67590034 67590034 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:67590034G>A uc003xwo.1 + 2 244 c.91G>A c.(91-93)GAA>AAA p.E31K SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.E31K NM_019607 NP_062553 Q96CB5 CH044_HUMAN hypothetical protein LOC56260 31 0 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) GGAGCACTTCGAAAACCACTG 0.294 32 56 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767033 77767033 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:77767033C>T uc003yav.2 + 10 8128 c.7741C>T c.(7741-7743)CTG>TTG p.L2581L ZFHX4_uc003yau.1_Silent_p.L2626L|ZFHX4_uc003yaw.1_Silent_p.L2581L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2581 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAATACTTGCTGGATTCCAA 0.473 HNSCC(33;0.089) 12 63 --- --- --- --- PASS IMPA1 3612 broad.mit.edu 37 8 82592931 82592931 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:82592931C>G uc003ych.2 - 3 278 c.151G>C c.(151-153)GAA>CAA p.E51Q IMPA1_uc011lfq.1_Missense_Mutation_p.E110Q|IMPA1_uc011lfr.1_Missense_Mutation_p.E51Q NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 51 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) AGCATTTTTTCAACTTTTTGG 0.264 6 148 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86047240 86047240 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:86047240G>A uc003ycw.2 + 13 2281 c.2127G>A c.(2125-2127)TTG>TTA p.L709L LRRCC1_uc010maa.1_Silent_p.L410L|LRRCC1_uc003ycx.2_Silent_p.L616L|LRRCC1_uc003ycy.2_Silent_p.L689L NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 709 cell division|mitosis centriole|nucleus 0 TTTCTAAATTGAAACAAGAAA 0.289 12 206 --- --- --- --- PASS TMEM67 91147 broad.mit.edu 37 8 94777642 94777642 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:94777642G>A uc011lgk.1 + 5 586 c.515G>A c.(514-516)CGA>CAA p.R172Q TMEM67_uc010mat.1_Missense_Mutation_p.R87Q|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.R91Q NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 172 R -> Q (in COACHS). cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AGGTGCGTCCGATGTGAGCCA 0.279 5 111 --- --- --- --- PASS GEM 2669 broad.mit.edu 37 8 95272461 95272461 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:95272461G>A uc003ygj.2 - 2 520 c.271C>T c.(271-273)CTG>TTG p.L91L GEM_uc003ygi.2_Silent_p.L91L NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 91 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) ATGTTGGCCAGAGTGGACTTG 0.597 33 112 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110420406 110420406 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:110420406C>A uc003yne.2 + 18 2046 c.1942C>A c.(1942-1944)CCA>ACA p.P648T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 648 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGCTTCTAAGCCACTCACTCT 0.443 HNSCC(38;0.096) 33 98 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113275877 113275877 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:113275877G>T uc003ynu.2 - 61 10012 c.9853C>A c.(9853-9855)CAG>AAG p.Q3285K CSMD3_uc003yns.2_Missense_Mutation_p.Q2487K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3245K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3116K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3285 Sushi 25.|Extracellular (Potential). 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 CGTAAGCACTGCGGTACTTCA 0.393 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 41 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113569139 113569139 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:113569139C>A uc003ynu.2 - 25 4246 c.4087G>T c.(4087-4089)GGA>TGA p.G1363* CSMD3_uc003yns.2_Nonsense_Mutation_p.G635*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1323*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1259* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1363 Extracellular (Potential).|Sushi 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCTTGTATCCAAATTGTGGA 0.413 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 106 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121322262 121322262 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:121322262C>T uc003yox.2 + 37 4681 c.4416C>T c.(4414-4416)CTC>CTT p.L1472L COL14A1_uc003yoz.2_Silent_p.L437L NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1472 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GTCCAGGACTCCGAGGACCAA 0.338 45 116 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964707 123964707 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:123964707C>T uc003ypk.1 + 3 1524 c.957C>T c.(955-957)ATC>ATT p.I319I NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 319 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization.|Homeobox 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGCATGGCATCAGCTGGTCCC 0.597 12 198 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124359338 124359338 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:124359338C>G uc003yqh.3 - 16 2314 c.2206G>C c.(2206-2208)GAC>CAC p.D736H ATAD2_uc011lii.1_Missense_Mutation_p.D527H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D736H NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATACCTGAGTCTAATGTTTTA 0.318 34 161 --- --- --- --- PASS WDYHV1 55093 broad.mit.edu 37 8 124453564 124453564 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:124453564A>G uc003yqn.1 + 6 652 c.527A>G c.(526-528)AAC>AGC p.N176S WDYHV1_uc011lij.1_Missense_Mutation_p.N116S|WDYHV1_uc003yqo.1_RNA NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 176 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 ATGAACCTGAACGATTTCATC 0.368 12 27 --- --- --- --- PASS FAM91A1 157769 broad.mit.edu 37 8 124818395 124818395 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:124818395G>A uc003yqv.2 + 20 2019 c.1958G>A c.(1957-1959)TGT>TAT p.C653Y FAM91A1_uc011lik.1_Missense_Mutation_p.C653Y|FAM91A1_uc011lil.1_Missense_Mutation_p.C411Y NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 653 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CAGCATCTCTGTGGATATGTC 0.418 18 389 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 124992974 124992974 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:124992974G>A uc003yqw.2 + 11 1539 c.1333G>A c.(1333-1335)GAT>AAT p.D445N NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 445 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAAACTGAAGATGGAAAATC 0.468 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 101 --- --- --- --- PASS MYC 4609 broad.mit.edu 37 8 128750739 128750739 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:128750739C>G uc003ysh.1 + 3 744 c.231C>G c.(229-231)GTC>GTG p.V77V MYC_uc003ysi.2_Silent_p.V92V NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 77 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ACGTTGCGGTCACACCCTTCT 0.672 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 43 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131826458 131826458 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:131826458G>A uc003ytd.3 - 14 3026 c.2770C>T c.(2770-2772)CGC>TGC p.R924C ADCY8_uc010mds.2_Missense_Mutation_p.R793C NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 924 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|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) AAGTCCAGGCGGGCTGTGTAC 0.507 HNSCC(32;0.087) 36 159 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164351 139164351 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:139164351C>A uc003yuy.2 - 13 2538 c.2367G>T c.(2365-2367)AAG>AAT p.K789N FAM135B_uc003yux.2_Missense_Mutation_p.K690N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K351N|FAM135B_uc003yvb.2_Missense_Mutation_p.K351N NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 789 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) CATCTTGCTGCTTGGTGTCCG 0.522 HNSCC(54;0.14) 37 76 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139165196 139165196 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:139165196G>A uc003yuy.2 - 13 1693 c.1522C>T c.(1522-1524)CAA>TAA p.Q508* FAM135B_uc003yux.2_Nonsense_Mutation_p.Q409*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.Q70*|FAM135B_uc003yvb.2_Nonsense_Mutation_p.Q70* NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 508 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) GCTTTGTTTTGAAATTCACCA 0.438 HNSCC(54;0.14) 14 253 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139675958 139675958 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:139675958T>C uc003yvd.2 - 42 3623 c.3176A>G c.(3175-3177)AAA>AGA p.K1059R COL22A1_uc011ljo.1_Missense_Mutation_p.K339R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1059 Pro-rich.|Gly-rich.|Collagen-like 9. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CGGGGATCCTTTGTCTCCTGG 0.423 HNSCC(7;0.00092) 8 168 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139890135 139890135 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:139890135G>C uc003yvd.2 - 3 963 c.516C>G c.(514-516)ATC>ATG p.I172M NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 172 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCACGGCAAAGATGCGGATGC 0.682 HNSCC(7;0.00092) 4 9 --- --- --- --- PASS ZC3H3 23144 broad.mit.edu 37 8 144620616 144620616 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:144620616C>T uc003yyd.2 - 2 950 c.921G>A c.(919-921)CGG>CGA p.R307R NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 307 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGTTGTTTTTCCGGAACTTGT 0.632 13 274 --- --- --- --- PASS HEATR7A 727957 broad.mit.edu 37 8 145246714 145246714 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:145246714C>T uc003zbk.3 + 9 1048 c.811C>T c.(811-813)CTC>TTC p.L271F HEATR7A_uc003zbg.2_Missense_Mutation_p.L271F|HEATR7A_uc003zbh.3_Missense_Mutation_p.L271F|HEATR7A_uc003zbi.3_Missense_Mutation_p.L271F|HEATR7A_uc011lla.1_Missense_Mutation_p.L271F|HEATR7A_uc010mft.2_Missense_Mutation_p.L271F NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 271 binding 0 CCCTGGGATTCTCGCCCTCTA 0.607 10 24 --- --- --- --- PASS ZNF250 58500 broad.mit.edu 37 8 146108105 146108105 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:146108105C>T uc003zeq.3 - 6 595 c.478G>A c.(478-480)GAA>AAA p.E160K COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E155K|ZNF250_uc010mgg.2_Missense_Mutation_p.E155K NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TGCTTTGTTTCATTATTTTCT 0.458 42 327 --- --- --- --- PASS JAK2 3717 broad.mit.edu 37 9 5126787 5126787 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:5126787G>C uc010mhm.2 + 24 3508 c.3395G>C c.(3394-3396)GGA>GCA p.G1132A JAK2_uc003ziw.2_Missense_Mutation_p.G1132A NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 1132 actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AACATGGCTGGATGAAAGAAA 0.343 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 4 112 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5756368 5756368 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:5756368G>A uc003zji.2 + 15 1705 c.1612G>A c.(1612-1614)GAT>AAT p.D538N KIAA1432_uc003zjh.2_Missense_Mutation_p.D538N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D501N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D80N NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 617 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAGAAAATCTGATGGGTAAGT 0.348 58 96 --- --- --- --- PASS PSIP1 11168 broad.mit.edu 37 9 15468837 15468837 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:15468837C>G uc003zlv.3 - 14 1541 c.1211G>C c.(1210-1212)CGG>CCG p.R404P PSIP1_uc003zlw.3_Missense_Mutation_p.R404P NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 404 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TTTGAATCGCCGTATCTGAGA 0.303 38 58 --- --- --- --- PASS IFNB1 3456 broad.mit.edu 37 9 21077455 21077455 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:21077455C>G uc003zok.2 - 1 489 c.414G>C c.(412-414)ATG>ATC p.M138I NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 138 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GCAGACTGCTCATGAGTTTTC 0.448 50 327 --- --- --- --- PASS IFNA14 3448 broad.mit.edu 37 9 21239788 21239788 + Silent SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:21239788A>T uc010mis.2 - 1 191 c.147T>A c.(145-147)CCT>CCA p.P49P IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 49 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGCAGGAGAAAGGAGAGATTC 0.483 79 121 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21970910 21970910 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:21970910C>T uc003zpk.2 - 2 660 c.448G>A c.(448-450)GGT>AGT p.G150S MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 150 G -> V (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.R128fs*12(3)|p.G150V(1)|p.G150G(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCTGAGGGACCTTCCGCGGCA 0.597 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 25 44 --- --- --- --- PASS SMC5 23137 broad.mit.edu 37 9 72961531 72961531 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:72961531C>T uc004ahr.2 + 19 2651 c.2534C>T c.(2533-2535)ACC>ATC p.T845I SMC5_uc011lry.1_5'UTR NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 845 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 CAAGTACCCACCATTCCAAAT 0.438 30 267 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79875048 79875048 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:79875048G>C uc004akr.2 + 23 2595 c.2335G>C c.(2335-2337)GAT>CAT p.D779H VPS13A_uc004akp.3_Missense_Mutation_p.D779H|VPS13A_uc004akq.3_Missense_Mutation_p.D779H|VPS13A_uc004aks.2_Missense_Mutation_p.D779H NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 779 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACGAATCTCAGATAAAAAACT 0.299 18 94 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79933188 79933188 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:79933188C>A uc004akr.2 + 41 5254 c.4994C>A c.(4993-4995)ACT>AAT p.T1665N VPS13A_uc004akp.3_Missense_Mutation_p.T1665N|VPS13A_uc004akq.3_Missense_Mutation_p.T1665N|VPS13A_uc004aks.2_Missense_Mutation_p.T1626N|VPS13A_uc004akt.2_Missense_Mutation_p.T5N|VPS13A_uc010mpo.1_Missense_Mutation_p.T261N NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1665 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATTACCATAACTTCAGCACTG 0.313 35 110 --- --- --- --- PASS FRMD3 257019 broad.mit.edu 37 9 85862922 85862922 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:85862922C>G uc004ams.1 - 14 1907 c.1705G>C c.(1705-1707)GAG>CAG p.E569Q FRMD3_uc004amr.1_Intron|FRMD3_uc004amq.1_Intron NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 569 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 TGAAACTGCTCAAACTCTGGT 0.493 6 188 --- --- --- --- PASS C9orf64 84267 broad.mit.edu 37 9 86559728 86559728 + Silent SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:86559728T>A uc004anb.2 - 3 1022 c.774A>T c.(772-774)CTA>CTT p.L258L C9orf64_uc004anc.2_Silent_p.L117L NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 258 0 GCTTCTTCAGTAGGTCATCAG 0.388 31 121 --- --- --- --- PASS CTSL1 1514 broad.mit.edu 37 9 90345939 90345939 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:90345939G>A uc004aph.2 + 8 1269 c.919G>A c.(919-921)GGC>AGC p.G307S CTSL1_uc004api.2_Missense_Mutation_p.G307S|CTSL1_uc004apj.2_Missense_Mutation_p.G252S|CTSL1_uc010mqh.2_Missense_Mutation_p.G125S|CTSL1_uc004apk.2_Missense_Mutation_p.G307S|CTSL1_uc004apl.2_Missense_Mutation_p.G307S NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 307 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) TGAAGAATGGGGCATGGGTGG 0.488 6 55 --- --- --- --- PASS GADD45G 10912 broad.mit.edu 37 9 92220039 92220039 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:92220039G>A uc004aqq.2 + 1 113 c.3G>A c.(1-3)ATG>ATA p.M1I GADD45G_uc004aqr.2_5'Flank NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 1 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 ATCGCACTATGACTCTGGAAG 0.642 4 27 --- --- --- --- PASS CENPP 401541 broad.mit.edu 37 9 95107999 95107999 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:95107999T>A uc004arz.2 + 4 937 c.397T>A c.(397-399)TCT>ACT p.S133T CENPP_uc010mqx.2_Missense_Mutation_p.S21T|CENPP_uc004ary.1_Missense_Mutation_p.S133T NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P 133 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 GAGATTATCTTCTGCTGTTAC 0.289 14 73 --- --- --- --- PASS ZNF169 169841 broad.mit.edu 37 9 97062288 97062288 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:97062288G>A uc004aum.1 + 5 553 c.448G>A c.(448-450)GAC>AAC p.D150N NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 150 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) AGAAGGCCCCGACAGCTCATT 0.488 20 56 --- --- --- --- PASS NCBP1 4686 broad.mit.edu 37 9 100416152 100416152 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:100416152G>A uc004axq.2 + 11 1591 c.1132G>A c.(1132-1134)GAA>AAA p.E378K NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 378 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) ACTCCTCATTGAACTGTGCAA 0.378 12 150 --- --- --- --- PASS GALNT12 79695 broad.mit.edu 37 9 101611249 101611249 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:101611249C>T uc004ayz.2 + 10 1621 c.1621C>T c.(1621-1623)CAC>TAC p.H541Y NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 541 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) ATCTTTATTTCACGAACAGTC 0.423 OREG0019361 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 75 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101751484 101751484 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:101751484C>T uc004azb.1 + 5 954 c.748C>T c.(748-750)CAG>TAG p.Q250* NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 250 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CAGTGGGCTGCAGGAGGCAGA 0.552 14 93 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101832050 101832050 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:101832050C>T uc004azb.1 + 42 4255 c.4049C>T c.(4048-4050)ACG>ATG p.T1350M NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1350 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ACAGCGGTCACGGGACTTGCC 0.542 46 154 --- --- --- --- PASS OR13D1 286365 broad.mit.edu 37 9 107456754 107456754 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:107456754C>A uc011lvs.1 + 1 52 c.52C>A c.(52-54)CAT>AAT p.H18N NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTACCTGAATCATGTCCTTTT 0.363 18 76 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109687003 109687003 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:109687003C>G uc004bcz.2 + 3 1099 c.810C>G c.(808-810)GTC>GTG p.V270V ZNF462_uc010mto.2_Silent_p.V118V|ZNF462_uc004bda.2_Silent_p.V118V NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 270 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GCAGTATGGTCAAGATCCTTT 0.522 30 91 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112899041 112899041 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:112899041A>T uc004bei.2 + 9 2105 c.1913A>T c.(1912-1914)AAG>ATG p.K638M PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.K406M|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.K406M|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.K216M|AKAP2_uc011lwi.1_Missense_Mutation_p.K264M|AKAP2_uc004bem.2_Missense_Mutation_p.K264M|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.K224M|AKAP2_uc011lwj.1_Missense_Mutation_p.K175M|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.K175M NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 175 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 ACACTGAAAAAGGAGGCCAAG 0.537 15 55 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113550000 113550000 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:113550000C>T uc004bey.2 + 13 1907 c.1809C>T c.(1807-1809)TTC>TTT p.F603F MUSK_uc004bez.1_Silent_p.F183F NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 603 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 ATGAACCTTTCACTATGGTGG 0.438 4 87 --- --- --- --- PASS KIAA1958 158405 broad.mit.edu 37 9 115336509 115336509 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:115336509G>A uc004bgf.1 + 2 324 c.149G>A c.(148-150)TGT>TAT p.C50Y KIAA1958_uc011lwx.1_Missense_Mutation_p.C50Y NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 50 skin(1) 1 ATGTGGGGCTGTAGTGCTGGC 0.502 14 48 --- --- --- --- PASS KIAA1958 158405 broad.mit.edu 37 9 115336775 115336775 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:115336775G>A uc004bgf.1 + 2 590 c.415G>A c.(415-417)GAA>AAA p.E139K KIAA1958_uc011lwx.1_Missense_Mutation_p.E139K NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 139 skin(1) 1 TGAAGAATATGAAGATGAGAA 0.453 56 157 --- --- --- --- PASS SLC46A2 57864 broad.mit.edu 37 9 115649615 115649615 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:115649615G>C uc004bgk.2 - 2 1440 c.1208C>G c.(1207-1209)TCT>TGT p.S403C NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 403 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 CTCACCATAAGAGGAGCCCTT 0.502 7 18 --- --- --- --- PASS TRAF1 7185 broad.mit.edu 37 9 123675837 123675837 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:123675837C>A uc004bku.1 - 5 1046 c.474G>T c.(472-474)GGG>GGT p.G158G TRAF1_uc011lyg.1_Silent_p.G36G|TRAF1_uc010mvl.1_Silent_p.G158G NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 158 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 CCTCCAGGTCCCCCGCCACTT 0.662 11 85 --- --- --- --- PASS GSN 2934 broad.mit.edu 37 9 124074660 124074660 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:124074660G>C uc004blf.1 + 5 771 c.710G>C c.(709-711)AGA>ACA p.R237T GSN_uc004bld.1_Missense_Mutation_p.R186T|GSN_uc010mvq.1_Missense_Mutation_p.R197T|GSN_uc010mvr.1_Missense_Mutation_p.R197T|GSN_uc010mvu.1_Missense_Mutation_p.R186T|GSN_uc010mvt.1_Missense_Mutation_p.R186T|GSN_uc010mvs.1_Missense_Mutation_p.R186T|GSN_uc004ble.1_Missense_Mutation_p.R186T|GSN_uc010mvv.1_Missense_Mutation_p.R186T|GSN_uc011lyh.1_Missense_Mutation_p.R203T|GSN_uc011lyi.1_Missense_Mutation_p.R186T|GSN_uc011lyj.1_Missense_Mutation_p.R210T|GSN_uc004blg.1_5'UTR NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 237 Gelsolin-like 2. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CGGTATGAAAGACTGAAGGCC 0.617 29 225 --- --- --- --- PASS OR1B1 347169 broad.mit.edu 37 9 125391335 125391335 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:125391335C>A uc011lyz.1 - 1 480 c.480G>T c.(478-480)TTG>TTT p.L160F NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCCCACACGCAACATGGTGT 0.557 13 40 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125486533 125486533 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:125486533G>C uc004bmu.1 + 1 265 c.265G>C c.(265-267)GAG>CAG p.E89Q NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTTCTATCAGAGACAAAGAT 0.448 6 180 --- --- --- --- PASS LMX1B 4010 broad.mit.edu 37 9 129455528 129455528 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:129455528C>G uc004bqj.2 + 4 648 c.598C>G c.(598-600)CGG>GGG p.R200G LMX1B_uc004bqi.2_Missense_Mutation_p.R200G|LMX1B_uc011maa.1_Missense_Mutation_p.R200G NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 200 Homeobox. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CAAGCGACCCCGGACCATCCT 0.577 Nail-Patella_Syndrome 5 16 --- --- --- --- PASS GARNL3 84253 broad.mit.edu 37 9 130100413 130100413 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:130100413G>A uc011mae.1 + 12 1402 c.1001G>A c.(1000-1002)AGA>AAA p.R334K GARNL3_uc011mad.1_Missense_Mutation_p.R312K|GARNL3_uc004bqt.1_Missense_Mutation_p.R115K NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 334 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GCCTTAGTGAGATACAATCAA 0.383 53 203 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131383448 131383448 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:131383448G>A uc004bvl.3 + 44 5843 c.5730G>A c.(5728-5730)AAG>AAA p.K1910K SPTAN1_uc004bvm.3_Silent_p.K1915K|SPTAN1_uc004bvn.3_Silent_p.K1890K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1910 Spectrin 20. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCTTACTGAAGAAACATGAAG 0.343 19 87 --- --- --- --- PASS CRAT 1384 broad.mit.edu 37 9 131860614 131860614 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:131860614G>A uc004bxh.2 - 10 1524 c.1242C>T c.(1240-1242)TTC>TTT p.F414F CRAT_uc004bxg.2_Silent_p.F393F|CRAT_uc004bxk.3_Silent_p.F393F NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 414 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CAAAATGGTGGAACACCATCA 0.597 33 119 --- --- --- --- PASS ABL1 25 broad.mit.edu 37 9 133760253 133760253 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:133760253C>G uc004bzw.2 + 11 2579 c.2576C>G c.(2575-2577)TCA>TGA p.S859* ABL1_uc004bzv.2_Nonsense_Mutation_p.S878* NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 859 Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AAAGCAGGCTCAGGTGCACCA 0.652 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 18 23 --- --- --- --- PASS BAT2L1 84726 broad.mit.edu 37 9 134321843 134321843 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:134321843G>C uc004can.3 + 6 724 c.669G>C c.(667-669)CTG>CTC p.L223L BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.L223L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 223 protein binding 0 CCACGTCTCTGAGCACCTCCC 0.602 10 76 --- --- --- --- PASS RAPGEF1 2889 broad.mit.edu 37 9 134501478 134501478 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:134501478C>G uc004cbc.2 - 10 1612 c.1482G>C c.(1480-1482)CAG>CAC p.Q494H RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q512H|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q499H|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q499H NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 494 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GGGCTGTGCTCTGCAGGTCCT 0.622 8 76 --- --- --- --- PASS MED27 9442 broad.mit.edu 37 9 134814846 134814846 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:134814846C>T uc004cbe.1 - 4 517 c.495G>A c.(493-495)GTG>GTA p.V165V MED27_uc004cbf.1_Silent_p.V165V|MED27_uc011mco.1_Silent_p.V165V|MED27_uc004cbg.3_Silent_p.V165V NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 165 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) TGCGGCTGATCACATCATCAA 0.373 7 138 --- --- --- --- PASS OLFM1 10439 broad.mit.edu 37 9 137967606 137967606 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:137967606C>T uc004cfl.3 + 1 518 c.54C>T c.(52-54)CTC>CTT p.L18L OLFM1_uc010naq.1_Silent_p.L8L|OLFM1_uc004cfk.3_Silent_p.L18L NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein Error:Variant_position_missing_in_Q99784_after_alignment nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) GGAAGCTCCTCAGCCTCCTCT 0.687 6 35 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139289860 139289860 + Missense_Mutation SNP C T T rs145005705 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:139289860C>T uc004chh.2 - 4 370 c.361G>A c.(361-363)GAT>AAT p.D121N NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 121 SNAPC5-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCAGCCAGATCCCTCATGAGT 0.572 4 119 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139397647 139397647 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:139397647G>A uc004chz.2 - 27 5154 c.5154C>T c.(5152-5154)ATC>ATT p.I1718I NOTCH1_uc004cia.1_Silent_p.I948I NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1718 Extracellular (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.1719_1720>QKGPLAAFLGALASLGSLTIPYLI(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCACGGCCTCGATCTTGTAGG 0.667 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 11 78 --- --- --- --- PASS EHMT1 79813 broad.mit.edu 37 9 140685343 140685343 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:140685343C>T uc011mfc.1 + 16 2463 c.2426C>T c.(2425-2427)CCG>CTG p.P809L EHMT1_uc004cob.1_Missense_Mutation_p.P778L NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 809 ANK 3. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CAGAGGACCCCGTTGATGGAA 0.557 54 237 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140809200 140809200 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:140809200C>T uc004cog.2 + 5 862 c.717C>T c.(715-717)ATC>ATT p.I239I NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 239 Helical; Name=S5 of repeat I; (Potential).|I. 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) TGTTTGCCATCATTGGCCTGG 0.567 14 89 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140948447 140948447 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr9:140948447G>C uc004cog.2 + 26 4102 c.3957G>C c.(3955-3957)GAG>GAC p.E1319D CACNA1B_uc011mfd.1_Missense_Mutation_p.E849D|CACNA1B_uc004coi.2_Missense_Mutation_p.E533D NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1319 III.|Extracellular (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) AGGAGCTGGAGAGGGACTGCA 0.517 6 179 --- --- --- --- PASS IDI2 91734 broad.mit.edu 37 10 1065729 1065729 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:1065729C>T uc001ifv.1 - 5 477 c.412G>A c.(412-414)GCA>ACA p.A138T C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 138 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) TCTGATTTTGCCTTGTGGTGA 0.398 4 205 --- --- --- --- PASS CELF2 10659 broad.mit.edu 37 10 11259437 11259437 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:11259437G>A uc001iki.3 + 3 392 c.300G>A c.(298-300)CAG>CAA p.Q100Q CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Silent_p.Q100Q|CELF2_uc001ikk.2_Silent_p.Q107Q|CELF2_uc001ikl.3_Silent_p.Q107Q|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Silent_p.Q76Q|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Silent_p.Q76Q|CELF2_uc001ikp.3_Silent_p.Q76Q|CELF2_uc010qbn.1_Silent_p.Q84Q|CELF2_uc009xiw.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 100 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 TTGAGGCCCAGAATGCACTGC 0.363 7 128 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17026276 17026276 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:17026276G>A uc001ioo.2 - 30 4405 c.4353C>T c.(4351-4353)ATC>ATT p.I1451I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1451 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCCTCCATAGATCTAACATG 0.473 5 135 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17087132 17087132 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:17087132C>G uc001ioo.2 - 25 3598 c.3546G>C c.(3544-3546)CCG>CCC p.P1182P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1182 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATAGGGCATCGGGTAGTTGG 0.493 53 64 --- --- --- --- PASS NSUN6 221078 broad.mit.edu 37 10 18834947 18834947 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:18834947G>T uc010qcp.1 - 11 1743 c.1325C>A c.(1324-1326)GCC>GAC p.A442D NSUN6_uc001iqb.2_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 442 methyltransferase activity|RNA binding ovary(2) 2 TTCTCTTCTGGCCTCTCTAAG 0.458 53 393 --- --- --- --- PASS ARMC3 219681 broad.mit.edu 37 10 23248443 23248443 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:23248443G>A uc001irm.3 + 6 560 c.477G>A c.(475-477)CTG>CTA p.L159L ARMC3_uc010qcv.1_Silent_p.L159L|ARMC3_uc010qcw.1_Intron|ARMC3_uc001irn.1_Silent_p.L71L NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 159 ARM 4. binding 0 TCAGACTACTGAGTAGCCCTG 0.403 17 122 --- --- --- --- PASS ARHGAP21 57584 broad.mit.edu 37 10 24886905 24886905 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:24886905G>A uc001isb.2 - 15 3653 c.3166C>T c.(3166-3168)CGA>TGA p.R1056* ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Nonsense_Mutation_p.R1056*|ARHGAP21_uc010qdc.1_Nonsense_Mutation_p.R891* NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1055 Interaction with ARF1 and ARF6. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTTATTCTTCGACTAATTAGA 0.279 27 210 --- --- --- --- PASS BAMBI 25805 broad.mit.edu 37 10 28970465 28970465 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:28970465G>A uc001iuj.1 + 2 758 c.355G>A c.(355-357)GAG>AAG p.E119K BAMBI_uc001iui.2_Missense_Mutation_p.E119K NM_012342 NP_036474 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 119 Extracellular (Potential). cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(4) 4 TCCCAGGGGTGAGGCCTCAGG 0.498 6 143 --- --- --- --- PASS C10orf68 79741 broad.mit.edu 37 10 33015711 33015711 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:33015711C>G uc001iwn.3 + 8 1013 c.540C>G c.(538-540)CTC>CTG p.L180L C10orf68_uc001iwl.1_Silent_p.L188L|C10orf68_uc001iwm.1_Silent_p.L156L|C10orf68_uc010qei.1_Silent_p.L107L|C10orf68_uc001iwo.3_5'Flank NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 180 skin(2)|ovary(1) 3 TGTCAAAACTCCAAATGCAAG 0.274 6 76 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508127 37508127 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:37508127C>T uc001iza.1 + 34 3418 c.3319C>T c.(3319-3321)CAA>TAA p.Q1107* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1163 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAGGGCATCTCAATATAGTGG 0.328 148 224 --- --- --- --- PASS ZNF485 220992 broad.mit.edu 37 10 44104188 44104188 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:44104188G>T uc010qfc.1 + 3 345 c.151G>T c.(151-153)GGG>TGG p.G51W ZNF485_uc010qfd.1_Intron NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTGTCTGTGGGTGAGGATGG 0.498 9 92 --- --- --- --- PASS OR13A1 79290 broad.mit.edu 37 10 45799724 45799724 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:45799724G>A uc001jcc.1 - 4 456 c.147C>T c.(145-147)TTC>TTT p.F49F OR13A1_uc001jcd.1_Silent_p.F45F NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 49 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAGGAAGAGGAAACAGCTGA 0.517 11 94 --- --- --- --- PASS ANUBL1 93550 broad.mit.edu 37 10 46121658 46121658 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:46121658G>A uc001jcp.3 - 7 1855 c.1613C>T c.(1612-1614)TCT>TTT p.S538F ANUBL1_uc001jcl.3_Missense_Mutation_p.S58F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S538F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S464F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S464F|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 538 zinc ion binding 0 AATAACATCAGATCTTTTCCC 0.378 22 230 --- --- --- --- PASS SYT15 83849 broad.mit.edu 37 10 46968611 46968611 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:46968611G>A uc001jea.2 - 3 478 c.325C>T c.(325-327)CTG>TTG p.L109L SYT15_uc001jdz.2_Silent_p.L109L|SYT15_uc001jeb.2_5'UTR|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 109 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 TGAGGCAGCAGCTCTGATGCC 0.667 5 52 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49393641 49393641 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:49393641C>T uc001jgi.2 - 18 2421 c.2314G>A c.(2314-2316)GAA>AAA p.E772K FRMPD2_uc001jgh.2_Missense_Mutation_p.E740K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E750K NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 772 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CGTACAATTTCTCGGCCCGGT 0.493 9 121 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49400861 49400861 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:49400861C>G uc001jgi.2 - 16 2138 c.2031G>C c.(2029-2031)CAG>CAC p.Q677H FRMPD2_uc001jgh.2_Missense_Mutation_p.Q645H|FRMPD2_uc001jgj.2_Missense_Mutation_p.Q655H NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 677 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) ATGACAATCTCTGAATCCAAA 0.473 30 121 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55568917 55568917 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:55568917G>A uc010qhs.1 - 37 5303 c.4908C>T c.(4906-4908)CCC>CCT p.P1636P PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.P1629P|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CCTCCTCAGAGGGTGTCTCTG 0.463 HNSCC(58;0.16) 12 103 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55663038 55663038 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:55663038C>T uc001jju.1 - 26 3861 c.3466G>A c.(3466-3468)GAT>AAT p.D1156N PCDH15_uc010qhq.1_Missense_Mutation_p.D1161N|PCDH15_uc010qhr.1_Missense_Mutation_p.D1156N|PCDH15_uc010qhs.1_Missense_Mutation_p.D1168N|PCDH15_uc010qht.1_Missense_Mutation_p.D1163N|PCDH15_uc010qhu.1_Missense_Mutation_p.D1156N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1156N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1119N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1085N|PCDH15_uc010qhy.1_Missense_Mutation_p.D1161N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1156N|PCDH15_uc010qia.1_Missense_Mutation_p.D1134N|PCDH15_uc010qib.1_Missense_Mutation_p.D1134N NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1156 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATTCTTGCATCTTCAGATACA 0.363 HNSCC(58;0.16) 32 88 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55944935 55944935 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:55944935G>A uc001jju.1 - 12 1794 c.1399C>T c.(1399-1401)CAA>TAA p.Q467* PCDH15_uc010qhq.1_Nonsense_Mutation_p.Q472*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.Q479*|PCDH15_uc010qht.1_Nonsense_Mutation_p.Q474*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.Q467*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.Q445*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.Q430*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.Q472*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.Q467*|PCDH15_uc010qia.1_Nonsense_Mutation_p.Q445*|PCDH15_uc010qib.1_Nonsense_Mutation_p.Q445*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.Q467* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 467 Cadherin 4.|Extracellular (Potential). Q -> L (in Ref. 1; AAK31581). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCCACTGGTTGAAGTAAGGTG 0.353 HNSCC(58;0.16) 24 144 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61833437 61833437 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:61833437T>A uc001jky.2 - 37 7394 c.7202A>T c.(7201-7203)GAG>GTG p.E2401V ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2401 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AGGCAATGACTCTTCAGCAGT 0.428 36 110 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63170105 63170105 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:63170105G>A uc001jlo.2 - 6 1451 c.1082C>T c.(1081-1083)TCC>TTC p.S361F TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 361 integral to membrane 0 Prostate(12;0.0112) GGAGTCGTCGGAGGTGACTGG 0.582 4 91 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64967434 64967434 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:64967434C>G uc001jmn.2 - 10 4295 c.3995G>C c.(3994-3996)AGA>ACA p.R1332T JMJD1C_uc001jml.2_Missense_Mutation_p.R1113T|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1044T|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1150T|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1150T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R369T NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1332 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AGCTGAAGATCTTTCACTAAC 0.428 88 263 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69934214 69934214 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:69934214C>A uc001jnm.3 + 12 2550 c.2365C>A c.(2365-2367)CCA>ACA p.P789T MYPN_uc001jnn.3_Missense_Mutation_p.P514T|MYPN_uc001jno.3_Missense_Mutation_p.P789T|MYPN_uc009xpt.2_Missense_Mutation_p.P789T|MYPN_uc010qit.1_Missense_Mutation_p.P495T|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 789 Pro-rich. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CCCACCAGGCCCAACAGAACC 0.542 31 76 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70332691 70332691 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:70332691C>A uc001jok.3 + 2 1101 c.596C>A c.(595-597)TCC>TAC p.S199Y NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 199 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 GTTGAGGATTCCAAGATCAAT 0.468 28 121 --- --- --- --- PASS CCAR1 55749 broad.mit.edu 37 10 70502187 70502187 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:70502187C>T uc001joo.2 + 6 498 c.379C>T c.(379-381)CAA>TAA p.Q127* CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Nonsense_Mutation_p.Q101*|CCAR1_uc001jon.1_Nonsense_Mutation_p.Q73*|CCAR1_uc010qiz.1_Nonsense_Mutation_p.Q112*|CCAR1_uc010qja.1_Nonsense_Mutation_p.Q112*|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 127 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 GCCAACAGCACAAATAACTGT 0.423 59 127 --- --- --- --- PASS CCAR1 55749 broad.mit.edu 37 10 70509417 70509417 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:70509417C>T uc001joo.2 + 10 1212 c.1093C>T c.(1093-1095)CAG>TAG p.Q365* CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Nonsense_Mutation_p.Q170*|CCAR1_uc009xpx.1_Nonsense_Mutation_p.Q339*|CCAR1_uc001jon.1_Nonsense_Mutation_p.Q311*|CCAR1_uc010qiz.1_Nonsense_Mutation_p.Q350*|CCAR1_uc010qja.1_Nonsense_Mutation_p.Q350*|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 365 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TTACACAGTTCAGTTTTCAAA 0.413 8 301 --- --- --- --- PASS NEUROG3 50674 broad.mit.edu 37 10 71332178 71332178 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:71332178G>C uc001jpp.2 - 2 780 c.622C>G c.(622-624)CTG>GTG p.L208V NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 208 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 GAGAAAGCCAGACTGCCTGGG 0.662 2 10 --- --- --- --- PASS SAR1A 56681 broad.mit.edu 37 10 71920822 71920822 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:71920822G>A uc010qjh.1 - 5 385 c.182C>T c.(181-183)TCA>TTA p.S61L SAR1A_uc010qji.1_Missense_Mutation_p.S61L|SAR1A_uc010qjj.1_Missense_Mutation_p.S18L NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 61 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 TAGCTCTTCTGATGCTGAAAA 0.363 5 293 --- --- --- --- PASS NODAL 4838 broad.mit.edu 37 10 72195636 72195636 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:72195636G>C uc001jrc.2 - 2 339 c.297C>G c.(295-297)AGC>AGG p.S99R NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 99 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 GGTCCACAGGGCTGGACAGCT 0.572 21 79 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81373495 81373495 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:81373495C>G uc001kap.2 + 6 494 c.373C>G c.(373-375)CTC>GTC p.L125V SFTPA1_uc001kaq.2_Missense_Mutation_p.L125V|SFTPA1_uc009xry.2_Missense_Mutation_p.L140V|SFTPA1_uc001kar.2_Missense_Mutation_p.L125V|SFTPA1_uc010qlt.1_Missense_Mutation_p.L66V|SFTPA1_uc009xrz.2_Missense_Mutation_p.L55V|SFTPA1_uc009xsa.2_Missense_Mutation_p.L125V|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 125 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GCTCTCAGCCCTCAGTCTGCA 0.562 50 244 --- --- --- --- PASS LDB3 11155 broad.mit.edu 37 10 88441531 88441531 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:88441531G>T uc001kdv.2 + 4 683 c.660G>T c.(658-660)GGG>GGT p.G220G LDB3_uc010qml.1_Silent_p.G220G|LDB3_uc010qmm.1_Silent_p.G220G|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.G220G|LDB3_uc001kds.2_Silent_p.G220G|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 220 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 GCCTCCGAGGGAAGGCCTCGG 0.627 6 187 --- --- --- --- PASS LDB3 11155 broad.mit.edu 37 10 88485898 88485898 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:88485898C>A uc001kdv.2 + 12 2006 c.1983C>A c.(1981-1983)TAC>TAA p.Y661* LDB3_uc010qmm.1_Nonsense_Mutation_p.Y666*|LDB3_uc001kdu.2_Nonsense_Mutation_p.Y551*|LDB3_uc009xsz.2_Nonsense_Mutation_p.Y290*|LDB3_uc009xta.1_Nonsense_Mutation_p.Y40* NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 661 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TTTCAGACTACATCAATCTGT 0.577 10 34 --- --- --- --- PASS C10orf4 118924 broad.mit.edu 37 10 95447185 95447185 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:95447185C>G uc001kiz.1 - 8 685 c.487G>C c.(487-489)GAA>CAA p.E163Q C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Missense_Mutation_p.E163Q NM_145246 NP_660289 Q70Z53 F10C1_HUMAN FRA10AC1 protein 163 Lys-rich. nucleus protein binding 0 Colorectal(252;0.122) ACTTCTTTTTCTACTCGCCAC 0.254 4 30 --- --- --- --- PASS TLL2 7093 broad.mit.edu 37 10 98180750 98180750 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:98180750C>G uc001kml.1 - 7 1112 c.886G>C c.(886-888)GAC>CAC p.D296H TLL2_uc009xvf.1_Missense_Mutation_p.D244H NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 296 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ATGATGCTGTCAAAGTCGTAT 0.483 11 531 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98825822 98825822 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:98825822G>C uc001kmw.2 - 5 687 c.435C>G c.(433-435)ATC>ATG p.I145M SLIT1_uc009xvh.1_Missense_Mutation_p.I145M NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 145 LRR 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGATGGCCTGGATGGCGTTCT 0.552 11 12 --- --- --- --- PASS MMS19 64210 broad.mit.edu 37 10 99229407 99229407 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:99229407C>G uc001kns.3 - 11 1145 c.920G>C c.(919-921)AGA>ACA p.R307T MMS19_uc009xvs.2_5'Flank|MMS19_uc009xvt.2_Missense_Mutation_p.R149T|MMS19_uc001knr.2_Missense_Mutation_p.R149T|MMS19_uc010qox.1_Missense_Mutation_p.R285T|MMS19_uc001knt.2_Missense_Mutation_p.R307T|MMS19_uc001knu.1_RNA NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 307 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) ACTCACCTCTCTGCGGATAGA 0.368 Direct_reversal_of_damage|NER 7 93 --- --- --- --- PASS UBTD1 80019 broad.mit.edu 37 10 99330049 99330049 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:99330049G>A uc001knv.1 + 3 646 c.453G>A c.(451-453)CTG>CTA p.L151L ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank NM_024954 NP_079230 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 151 Ubiquitin-like. 0 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) AGTTCCCGCTGAAGGTGCGCC 0.697 5 63 --- --- --- --- PASS SFRP5 6425 broad.mit.edu 37 10 99531265 99531265 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:99531265C>A uc001kor.3 - 1 492 c.326G>T c.(325-327)TGC>TTC p.C109F NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 109 FZ. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) AAAGAGCGAGCACAGGAAGAC 0.697 3 49 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101656145 101656145 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:101656145T>C uc001kqj.2 - 10 3022 c.2930A>G c.(2929-2931)TAC>TGC p.Y977C DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.Y265C|DNMBP_uc001kqh.2_Missense_Mutation_p.Y609C NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 977 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ACCCTTACGGTACTTGAGGAC 0.433 57 97 --- --- --- --- PASS BTRC 8945 broad.mit.edu 37 10 103281516 103281516 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:103281516C>T uc001kta.2 + 5 558 c.445C>T c.(445-447)CAA>TAA p.Q149* BTRC_uc001ktb.2_Nonsense_Mutation_p.Q113*|BTRC_uc001ktc.2_Nonsense_Mutation_p.Q123* NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 149 Homodimerization domain D. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) AGAGTCAGATCAAGTGGAATT 0.398 7 133 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103906839 103906839 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:103906839G>C uc001kum.2 + 9 4129 c.4090G>C c.(4090-4092)GAT>CAT p.D1364H PPRC1_uc001kun.2_Missense_Mutation_p.D1244H|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGAGCAGGCAGATCCCTCAGC 0.627 3 51 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104164663 104164663 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:104164663G>A uc001kvg.1 - 14 3074 c.2547C>T c.(2545-2547)TTC>TTT p.F849F PSD_uc001kve.1_Silent_p.F57F|PSD_uc001kvf.1_Silent_p.F218F|PSD_uc001kvh.1_Silent_p.F470F|PSD_uc009xxd.1_Silent_p.F849F NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 849 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACGGGGCCTGGAAGAGGAAGA 0.627 12 13 --- --- --- --- PASS PCGF6 84108 broad.mit.edu 37 10 105086378 105086378 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:105086378C>G uc001kwt.2 - 8 890 c.822G>C c.(820-822)AAG>AAC p.K274N PCGF6_uc001kwu.2_Missense_Mutation_p.K199N|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 274 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) GAACAAACTTCTTTTCCAATG 0.333 7 81 --- --- --- --- PASS OBFC1 79991 broad.mit.edu 37 10 105657381 105657381 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:105657381C>A uc001kxl.2 - 6 753 c.678G>T c.(676-678)CAG>CAT p.Q226H OBFC1_uc001kxm.2_Missense_Mutation_p.Q226H|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 226 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) CCAGCTCCTGCTGGTAAAAGC 0.537 4 136 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105796278 105796278 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:105796278C>G uc001kxr.2 - 48 3559 c.3390G>C c.(3388-3390)CTG>CTC p.L1130L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1130 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGCGACTACTCAGCTCTGCAT 0.587 34 49 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105824224 105824224 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:105824224G>A uc001kxr.2 - 10 907 c.738C>T c.(736-738)CTC>CTT p.L246L COL17A1_uc010qqv.1_Silent_p.L230L|COL17A1_uc009xxp.1_Silent_p.L246L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 246 Cytoplasmic (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CATTGGTGTTGAGGAGGGATG 0.607 4 54 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108589406 108589406 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:108589406C>G uc001kym.2 - 3 660 c.652G>C c.(652-654)GAG>CAG p.E218Q SORCS1_uc001kyl.2_Missense_Mutation_p.E218Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E218Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E218Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E218Q NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 218 Lumenal (Potential).|BNR 1. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCAGCTTCTCATAGGTTGTT 0.363 7 189 --- --- --- --- PASS ADD3 120 broad.mit.edu 37 10 111892125 111892125 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:111892125C>T uc001kyt.3 + 15 2109 c.1795C>T c.(1795-1797)CAG>TAG p.Q599* ADD3_uc001kys.3_Intron|ADD3_uc001kyu.2_Nonsense_Mutation_p.Q599*|ADD3_uc001kyv.2_Nonsense_Mutation_p.Q599*|ADD3_uc001kyw.2_Intron|ADD3_uc001kyx.2_Nonsense_Mutation_p.Q172* NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) isoform a 599 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton ovary(2)|skin(2)|large_intestine(1) 5 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GTCTCAAACTCAGTCACCGCA 0.393 4 97 --- --- --- --- PASS HABP2 3026 broad.mit.edu 37 10 115343952 115343952 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:115343952C>T uc001lai.3 + 11 1386 c.1283C>T c.(1282-1284)TCC>TTC p.S428F HABP2_uc010qrz.1_RNA NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 428 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GCTCTAGAATCCAAATACGTG 0.507 4 89 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117075230 117075230 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:117075230C>A uc001lcg.2 + 18 3407 c.3021C>A c.(3019-3021)TCC>TCA p.S1007S ATRNL1_uc010qsm.1_Silent_p.S182S|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1007 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATGAGTGGTCCTTTATCCAGT 0.373 55 108 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118306940 118306940 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:118306940G>C uc001lcm.2 + 3 224 c.181G>C c.(181-183)GAG>CAG p.E61Q NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 61 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) ATATACTAATGAGAACCCAAA 0.318 4 111 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118460505 118460505 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:118460505G>T uc001lct.2 - 4 495 c.390C>A c.(388-390)GCC>GCA p.A130A HSPA12A_uc001lcu.2_Silent_p.A47A NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 130 ATP binding ovary(1) 1 all cancers(201;0.0158) GCCACTGCTTGGCCTCATTGG 0.577 13 182 --- --- --- --- PASS SLC18A2 6571 broad.mit.edu 37 10 119003708 119003708 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:119003708C>T uc001ldd.1 + 3 379 c.348C>T c.(346-348)GAC>GAT p.D116D SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 116 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TTCCTTCCGACTGTCCCAGTG 0.522 39 79 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124399867 124399867 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:124399867C>T uc001lgk.1 + 52 6973 c.6867C>T c.(6865-6867)CTC>CTT p.L2289L DMBT1_uc001lgl.1_Silent_p.L2279L|DMBT1_uc001lgm.1_Silent_p.L1661L|DMBT1_uc009xzz.1_Silent_p.L2288L|DMBT1_uc010qtx.1_Silent_p.L1009L|DMBT1_uc009yab.1_Silent_p.L992L|DMBT1_uc009yac.1_Silent_p.L583L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2289 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGAAATCCTCCATTCTGATG 0.468 39 147 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124399868 124399868 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:124399868C>A uc001lgk.1 + 52 6974 c.6868C>A c.(6868-6870)CAT>AAT p.H2290N DMBT1_uc001lgl.1_Missense_Mutation_p.H2280N|DMBT1_uc001lgm.1_Missense_Mutation_p.H1662N|DMBT1_uc009xzz.1_Missense_Mutation_p.H2289N|DMBT1_uc010qtx.1_Missense_Mutation_p.H1010N|DMBT1_uc009yab.1_Missense_Mutation_p.H993N|DMBT1_uc009yac.1_Missense_Mutation_p.H584N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2290 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGAAATCCTCCATTCTGATGC 0.468 39 147 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124692056 124692056 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:124692056C>T uc001lgw.2 - 6 1450 c.1225G>A c.(1225-1227)GAT>AAT p.D409N C10orf88_uc001lgx.2_Missense_Mutation_p.D311N NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 409 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) ATCTTATCATCAATGTGCTCC 0.383 4 187 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127413989 127413989 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:127413989C>G uc001liq.1 + 5 906 c.613C>G c.(613-615)CTT>GTT p.L205V C10orf137_uc001lin.2_Missense_Mutation_p.L205V|C10orf137_uc001lio.1_Missense_Mutation_p.L205V|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAGGCAATTCTTTCCAAGTT 0.343 4 136 --- --- --- --- PASS MMP21 118856 broad.mit.edu 37 10 127464271 127464271 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:127464271T>C uc001liu.2 - 1 120 c.120A>G c.(118-120)CCA>CCG p.P40P NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 40 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CCTGGCGCAGTGGGGACGGCT 0.672 21 55 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129901286 129901286 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr10:129901286C>T uc001lke.2 - 13 9013 c.8818G>A c.(8818-8820)GAT>AAT p.D2940N MKI67_uc001lkf.2_Missense_Mutation_p.D2580N|MKI67_uc009yav.1_Missense_Mutation_p.D2515N|MKI67_uc009yaw.1_Missense_Mutation_p.D2090N NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2940 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) GTAAAGCTATCAGCAGCACCA 0.507 8 471 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 688371 688371 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:688371C>G uc001lqq.1 - 3 1170 c.477G>C c.(475-477)GAG>GAC p.E159D DEAF1_uc009ycf.1_5'Flank NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 159 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GCCCGGTGGTCTCCACGATGC 0.577 7 44 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3038392 3038392 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:3038392T>C uc001lxh.2 - 15 1686 c.1612A>G c.(1612-1614)AGG>GGG p.R538G CARS_uc001lxe.2_Missense_Mutation_p.R528G|CARS_uc001lxf.2_Missense_Mutation_p.R621G|CARS_uc001lxg.2_Missense_Mutation_p.R538G|CARS_uc010qxo.1_Missense_Mutation_p.R621G|CARS_uc010qxp.1_Missense_Mutation_p.R551G NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 538 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TGGTTGGGCCTCTTCCTCACG 0.592 T ALK ALCL 11 85 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5410897 5410897 + Nonsense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:5410897T>A uc010qzc.1 + 1 269 c.269T>A c.(268-270)TTG>TAG p.L90* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 90 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGTCCACGTTGCCCACCACT 0.478 109 170 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5530093 5530093 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:5530093C>A uc001may.1 - 2 782 c.696G>T c.(694-696)GAG>GAT p.E232D HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 232 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACGTATCATCTCCTGCATCA 0.483 52 88 --- --- --- --- PASS TRIM5 85363 broad.mit.edu 37 11 5686453 5686453 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:5686453T>C uc001mbm.1 - 8 1325 c.1068A>G c.(1066-1068)TCA>TCG p.S356S TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 356 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) AATGTTTCCCTGATGTGATAC 0.433 135 174 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5905763 5905763 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:5905763C>T uc010qzs.1 + 1 241 c.241C>T c.(241-243)CCC>TCC p.P81S TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCACTATCCCCAAAATGCT 0.443 107 169 --- --- --- --- PASS TPP1 1200 broad.mit.edu 37 11 6638000 6638000 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:6638000C>A uc001mel.1 - 7 839 c.778G>T c.(778-780)GTG>TTG p.V260L TPP1_uc001mek.1_Missense_Mutation_p.V17L NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 260 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) TGTCCAACCACACGGGCTACT 0.577 84 141 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7092450 7092450 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:7092450G>A uc001mfb.1 + 12 3516 c.3193G>A c.(3193-3195)GCT>ACT p.A1065T NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1065 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCTGCTGGAAGCTGTGGGAGT 0.428 15 97 --- --- --- --- PASS SCUBE2 57758 broad.mit.edu 37 11 9101052 9101052 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:9101052G>A uc001mhh.1 - 3 341 c.261C>T c.(259-261)ATC>ATT p.I87I SCUBE2_uc001mhi.1_Silent_p.I87I|SCUBE2_uc001mhj.1_Silent_p.I87I NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 87 EGF-like 2; calcium-binding (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CACATTCATCGATGTCTGAGG 0.318 7 195 --- --- --- --- PASS GALNTL4 374378 broad.mit.edu 37 11 11400750 11400750 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:11400750G>T uc001mjo.2 - 4 1078 c.657C>A c.(655-657)TTC>TTA p.F219L NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 219 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CGACTTTGATGAAGCCTGGCT 0.582 48 54 --- --- --- --- PASS COPB1 1315 broad.mit.edu 37 11 14491055 14491055 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:14491055A>G uc001mli.2 - 15 2099 c.1792T>C c.(1792-1794)TCC>CCC p.S598P COPB1_uc001mlg.2_Missense_Mutation_p.S598P|COPB1_uc001mlh.2_Missense_Mutation_p.S598P NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 598 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GGAAGAGAGGATTTTCCCAAA 0.388 39 53 --- --- --- --- PASS PLEKHA7 144100 broad.mit.edu 37 11 16863215 16863215 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:16863215G>A uc001mmo.2 - 9 766 c.751C>T c.(751-753)CAG>TAG p.Q251* PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.Q251* NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 251 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TGCTCGGCCTGAGAGCCCGCT 0.582 4 74 --- --- --- --- PASS LDHC 3948 broad.mit.edu 37 11 18456319 18456319 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:18456319A>G uc001mon.3 + 5 563 c.451A>G c.(451-453)AGT>GGT p.S151G LDHC_uc001mom.3_Missense_Mutation_p.S151G|LDHC_uc009yhp.2_Missense_Mutation_p.S151G|LDHC_uc001moo.3_Missense_Mutation_p.S35G|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.S35G NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 151 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) CTGGAAGATAAGTGGCTTACC 0.343 95 134 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20636265 20636265 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:20636265G>A uc001mqd.2 + 6 1299 c.1026G>A c.(1024-1026)AAG>AAA p.K342K SLC6A5_uc009yic.2_Silent_p.K107K NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 342 Extracellular (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TACAGATCAAGAACTCGACTT 0.403 91 136 --- --- --- --- PASS BBOX1 8424 broad.mit.edu 37 11 27077152 27077152 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:27077152G>C uc001mre.1 + 3 543 c.175G>C c.(175-177)GAT>CAT p.D59H BBOX1_uc009yih.1_Missense_Mutation_p.D59H|BBOX1_uc001mrg.1_Missense_Mutation_p.D59H NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 59 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) GGAAGCTCTTGATGTGAACAT 0.408 7 83 --- --- --- --- PASS C11orf74 119710 broad.mit.edu 37 11 36654838 36654838 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:36654838T>C uc001mwy.1 + 3 214 c.141T>C c.(139-141)GAT>GAC p.D47D C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 47 0 all_lung(20;0.226) all_hematologic(20;0.0118) TTTCAGAGGATCATGTGTCCA 0.328 55 81 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136116 40136116 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:40136116G>T uc001mxa.1 - 2 3691 c.1727C>A c.(1726-1728)ACG>AAG p.T576K LRRC4C_uc001mxc.1_Missense_Mutation_p.T572K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T572K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T572K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 576 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTGTCTCCCGTAATCTCATC 0.458 10 221 --- --- --- --- PASS ZNF408 79797 broad.mit.edu 37 11 46726895 46726895 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:46726895G>A uc001nde.1 + 5 1875 c.1645G>A c.(1645-1647)GAG>AAG p.E549K ZNF408_uc010rgw.1_Missense_Mutation_p.E541K NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 ACACACCGGGGAGGCCCACTT 0.682 4 59 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46916147 46916147 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:46916147C>G uc001ndn.3 - 12 1679 c.1533G>C c.(1531-1533)GAG>GAC p.E511D NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 511 Extracellular (Potential).|LDL-receptor class B 1. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TACCTGGGCTCTCCAGCCCAG 0.552 9 13 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346796 48346796 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:48346796A>T uc010rhv.1 + 1 304 c.304A>T c.(304-306)ATG>TTG p.M102L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCTTCTTCTATGGCTCCTAA 0.468 21 275 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515761 51515761 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:51515761C>T uc010ric.1 + 1 480 c.480C>T c.(478-480)TTC>TTT p.F160F NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGATCCTCTTCATCTTCCAAT 0.468 12 286 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135666 55135666 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55135666A>G uc010rif.1 + 1 307 c.307A>G c.(307-309)ACT>GCT p.T103A NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 103 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CGTCTATTCTACTGCATTTGC 0.413 75 292 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563673 55563673 + Silent SNP G C C rs148455368 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55563673G>C uc010rim.1 + 1 642 c.642G>C c.(640-642)CTG>CTC p.L214L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GTACACTACTGATCATCCTCA 0.478 20 385 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55655595 55655595 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55655595G>C uc010rip.1 + 4 687 c.595G>C c.(595-597)GAA>CAA p.E199Q SPRYD5_uc010riq.1_Missense_Mutation_p.E56Q NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 199 intracellular zinc ion binding 0 all_epithelial(135;0.226) ACATCACTTGGAAAGGCTGCG 0.428 4 116 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681880 55681880 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55681880T>C uc010rir.1 - 1 179 c.179A>G c.(178-180)TAT>TGT p.Y60C NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGGAAGAAATACATTGGTGT 0.383 15 118 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703584 55703584 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55703584C>A uc010ris.1 - 1 293 c.293G>T c.(292-294)GGG>GTG p.G98V NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAGGGCACACCCATAATAGGA 0.423 24 70 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944688 55944688 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:55944688C>A uc010rjb.1 + 1 595 c.595C>A c.(595-597)CTG>ATG p.L199M NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TGAGTTGTTGCTGTTAACCTT 0.453 38 185 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020334 56020334 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:56020334C>G uc010rjd.1 + 1 659 c.659C>G c.(658-660)TCT>TGT p.S220C NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 220 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATTTCTTGTTCTGACACTCAC 0.398 144 458 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237923 56237923 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:56237923G>A uc010rjk.1 - 1 51 c.51C>T c.(49-51)AGC>AGT p.S17S NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATTCTCGACGGCTCGTTAGCC 0.393 10 143 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310301 56310301 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:56310301T>A uc010rjl.1 - 1 433 c.433A>T c.(433-435)ACA>TCA p.T145S NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGGGAAATGTGGCCAAGCAG 0.507 18 49 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310358 56310358 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:56310358A>T uc010rjl.1 - 1 376 c.376T>A c.(376-378)TAT>AAT p.Y126N NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAGGGTCATATATGGCCACA 0.483 25 49 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57077578 57077578 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:57077578C>G uc001njr.2 - 5 2919 c.2607G>C c.(2605-2607)AAG>AAC p.K869N TNKS1BP1_uc001njs.2_Missense_Mutation_p.K869N|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.K320N NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 869 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) GTGAATCTCTCTTTCCGAATT 0.532 4 361 --- --- --- --- PASS GLYATL1 92292 broad.mit.edu 37 11 58722807 58722807 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:58722807C>A uc001nnf.2 + 7 848 c.472C>A c.(472-474)CCA>ACA p.P158T uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P189T|GLYATL1_uc001nni.1_Missense_Mutation_p.P158T|GLYATL1_uc001nnj.1_Missense_Mutation_p.P158T Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 158 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GACAGGCCACCCAGATGATGA 0.398 50 100 --- --- --- --- PASS FAM111A 63901 broad.mit.edu 37 11 58920584 58920584 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:58920584G>A uc010rkp.1 + 5 1670 c.1443G>A c.(1441-1443)CAG>CAA p.Q481Q FAM111A_uc010rkq.1_Silent_p.Q481Q|FAM111A_uc010rkr.1_Silent_p.Q481Q|FAM111A_uc001nno.2_Silent_p.Q481Q|FAM111A_uc001nnp.2_Silent_p.Q481Q|FAM111A_uc001nnq.2_Silent_p.Q481Q NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 481 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) AAAAAAAGCAGATTGATGCTT 0.408 32 244 --- --- --- --- PASS DTX4 23220 broad.mit.edu 37 11 58972187 58972187 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:58972187C>G uc001nns.2 + 9 1922 c.1665C>G c.(1663-1665)CTC>CTG p.L555L DTX4_uc001nnr.2_Silent_p.L449L NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 555 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) ATCGCCGCCTCATTTTTGCCA 0.522 4 32 --- --- --- --- PASS TMEM132A 54972 broad.mit.edu 37 11 60704150 60704150 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:60704150C>G uc001nqj.2 + 11 3036 c.2843C>G c.(2842-2844)TCA>TGA p.S948* TMEM132A_uc001nqi.2_Nonsense_Mutation_p.S949*|TMEM132A_uc001nqm.2_Nonsense_Mutation_p.S158* NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 948 Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 ACCAGCTCCTCAAGCACCCTG 0.701 13 21 --- --- --- --- PASS SLC15A3 51296 broad.mit.edu 37 11 60714262 60714262 + Missense_Mutation SNP C A A rs142952480 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:60714262C>A uc001nqn.2 - 2 824 c.590G>T c.(589-591)CGC>CTC p.R197L SLC15A3_uc001nqo.2_Missense_Mutation_p.R197L NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 197 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 GTTGAAGAAGCGGCGGGTGGC 0.597 61 157 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61026260 61026260 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:61026260G>A uc001nra.2 - 20 3034 c.2755C>T c.(2755-2757)CGC>TGC p.R919C VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 919 extracellular region calcium ion binding ovary(1) 1 GAAAGCACGCGAGGCCCGAGG 0.667 34 142 --- --- --- --- PASS BEST1 7439 broad.mit.edu 37 11 61729985 61729985 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:61729985C>T uc001nss.2 + 10 1939 c.1359C>T c.(1357-1359)TTC>TTT p.F453F BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Silent_p.F81F|BEST1_uc001nsr.2_Silent_p.F393F|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Silent_p.F393F|BEST1_uc001nst.2_Silent_p.F366F|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Silent_p.F347F NM_004183 NP_004174 O76090 BEST1_HUMAN bestrophin 1 isoform 1 453 Cytoplasmic (Potential). response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity central_nervous_system(1) 1 TGGACGCCTTCAAGTCTGCCC 0.587 12 131 --- --- --- --- PASS EML3 256364 broad.mit.edu 37 11 62378413 62378413 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:62378413C>T uc001ntu.1 - 4 812 c.504G>A c.(502-504)CAG>CAA p.Q168Q EML3_uc001ntr.1_Silent_p.Q140Q|EML3_uc001nts.1_Silent_p.Q140Q|EML3_uc001ntt.1_Silent_p.Q52Q|EML3_uc010rly.1_Silent_p.Q168Q|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 168 cytoplasm|microtubule protein binding ovary(1) 1 TGGAGAGCTTCTGCCGAGGCC 0.617 9 82 --- --- --- --- PASS SLC3A2 6520 broad.mit.edu 37 11 62623803 62623803 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:62623803G>T uc001nwd.2 + 1 286 c.62G>T c.(61-63)GGC>GTC p.G21V SLC3A2_uc001nwb.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwc.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwe.2_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.2_Missense_Mutation_p.G21V|SNHG1_uc001nvp.2_5'Flank|SNHG1_uc001nvo.2_5'Flank|SNHG1_uc001nvq.2_5'Flank|SNHG1_uc001nvs.2_5'Flank|SNHG1_uc001nvr.2_5'Flank|SNHG1_uc001nvt.2_5'Flank|SNHG1_uc001nvu.2_5'Flank|SNORD31_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNORD29_uc001nvx.2_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNORD27_uc001nvz.2_5'Flank|SNORD26_uc009yok.1_5'Flank|SNORD25_uc001nwa.3_5'Flank NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 21 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 CAGTTGCCTGGCTCACATTCG 0.647 9 172 --- --- --- --- PASS HRASLS2 54979 broad.mit.edu 37 11 63320533 63320533 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:63320533G>A uc001nxg.1 - 4 451 c.392C>T c.(391-393)ACT>ATT p.T131I NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 131 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity 0 GACTGCACCAGTGACCTGCAG 0.577 18 67 --- --- --- --- PASS MACROD1 28992 broad.mit.edu 37 11 63918818 63918818 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:63918818A>T uc001nyh.2 - 3 529 c.410T>A c.(409-411)GTG>GAG p.V137E NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 137 0 CTCCACCTTCACAGCCACCCC 0.627 8 86 --- --- --- --- PASS CDC42BPG 55561 broad.mit.edu 37 11 64606236 64606236 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:64606236C>A uc001obs.3 - 8 1015 c.1015G>T c.(1015-1017)GGC>TGC p.G339C NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 339 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 CAGTCCACGCCTTCGAAGAAA 0.632 19 56 --- --- --- --- PASS SLC22A20 440044 broad.mit.edu 37 11 65003911 65003911 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:65003911G>A uc010roc.1 + 9 1293 c.1290G>A c.(1288-1290)GCG>GCA p.A430A SLC22A20_uc001odi.3_RNA NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 430 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 CCCAGGCAGCGCTGGGCAAAG 0.632 9 9 --- --- --- --- PASS RAD9A 5883 broad.mit.edu 37 11 67159653 67159653 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:67159653C>T uc001okr.2 + 2 149 c.56C>T c.(55-57)TCC>TTC p.S19F NM_004584 NP_004575 Q99638 RAD9A_HUMAN RAD9 homolog 19 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCCGTCCACTCCCTGTCCCGC 0.716 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 9 25 --- --- --- --- PASS RAD9A 5883 broad.mit.edu 37 11 67159668 67159668 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:67159668G>T uc001okr.2 + 2 164 c.71G>T c.(70-72)GGG>GTG p.G24V NM_004584 NP_004575 Q99638 RAD9A_HUMAN RAD9 homolog 24 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TCCCGCATCGGGGACGAGCTC 0.711 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 10 25 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68700813 68700813 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:68700813G>A uc001ook.1 + 9 1384 c.1282G>A c.(1282-1284)GAG>AAG p.E428K IGHMBP2_uc001ool.1_Missense_Mutation_p.E52K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E6K NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 428 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACGCCTGGCTGAGGAGTACGG 0.652 50 37 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68851471 68851471 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:68851471G>A uc001oos.2 + 19 1864 c.1748G>A c.(1747-1749)GGC>GAC p.G583D TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 583 Helical; Name=S5 of repeat II; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CGTGCGTTTGGCGGGATCCTG 0.667 11 205 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70319315 70319315 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70319315G>C uc001oqc.2 - 22 5287 c.5209C>G c.(5209-5211)CTC>GTC p.L1737V SHANK2_uc010rqn.1_Missense_Mutation_p.L1149V|SHANK2_uc001opz.2_Missense_Mutation_p.L1142V|uc009ysn.1_Missense_Mutation_p.R72T|SHANK2_uc001opy.2_Missense_Mutation_p.L73V NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1358 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACATCTGAGAGAGCGGGAGAA 0.602 11 608 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70332825 70332825 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70332825C>A uc001oqc.2 - 21 3651 c.3573G>T c.(3571-3573)GCG>GCT p.A1191A SHANK2_uc010rqn.1_Silent_p.A603A|SHANK2_uc001opz.2_Silent_p.A596A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 812 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGCCGCTGCTCGCGGAGGGCA 0.706 12 344 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70332944 70332944 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70332944C>T uc001oqc.2 - 21 3532 c.3454G>A c.(3454-3456)GAG>AAG p.E1152K SHANK2_uc010rqn.1_Missense_Mutation_p.E564K|SHANK2_uc001opz.2_Missense_Mutation_p.E557K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 773 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTTTCGGGCTCCCTGGGCGTG 0.677 26 581 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70333107 70333107 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70333107C>T uc001oqc.2 - 21 3369 c.3291G>A c.(3289-3291)AGG>AGA p.R1097R SHANK2_uc010rqn.1_Silent_p.R509R|SHANK2_uc001opz.2_Silent_p.R502R|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 718 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCGGGGAGTTCCTCCTGGCTT 0.716 18 261 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70333132 70333132 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70333132C>T uc001oqc.2 - 21 3344 c.3266G>A c.(3265-3267)CGT>CAT p.R1089H SHANK2_uc010rqn.1_Missense_Mutation_p.R501H|SHANK2_uc001opz.2_Missense_Mutation_p.R494H|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 710 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCGCTTCTCACGGTCGCGGAC 0.726 7 224 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70333551 70333551 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:70333551C>G uc001oqc.2 - 21 2925 c.2847G>C c.(2845-2847)GGG>GGC p.G949G SHANK2_uc010rqn.1_Silent_p.G361G|SHANK2_uc001opz.2_Silent_p.G354G|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 570 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGAAGTACATCCCCTTCTCCC 0.587 26 498 --- --- --- --- PASS CLPB 81570 broad.mit.edu 37 11 72040820 72040820 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:72040820C>G uc001osj.2 - 7 944 c.894G>C c.(892-894)ATG>ATC p.M298I CLPB_uc010rqx.1_Missense_Mutation_p.M253I|CLPB_uc010rqy.1_Missense_Mutation_p.M239I|CLPB_uc001osk.2_Missense_Mutation_p.M268I|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.M97I NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 298 ANK 4. cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 GTGTGTGTCCCATTTCATTCC 0.542 16 168 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72290356 72290356 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:72290356G>C uc010rrc.1 - 27 2571 c.2328C>G c.(2326-2328)ATC>ATG p.I776M PDE2A_uc001oso.2_Missense_Mutation_p.I755M|PDE2A_uc010rra.1_Missense_Mutation_p.I769M|PDE2A_uc001osn.2_Missense_Mutation_p.I520M|PDE2A_uc010rrb.1_Missense_Mutation_p.I767M|PDE2A_uc010rrd.1_Missense_Mutation_p.I661M NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 776 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGTCCTTGAAGATGCGGAGAT 0.597 23 224 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73748584 73748584 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:73748584C>A uc001ouu.2 - 30 6047 c.5820G>T c.(5818-5820)GGG>GGT p.G1940G C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1940 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TACACTGGCTCCCAGGGTCTA 0.527 65 392 --- --- --- --- PASS XRRA1 143570 broad.mit.edu 37 11 74555245 74555245 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:74555245G>C uc009yub.2 - 17 2319 c.1987C>G c.(1987-1989)CTT>GTT p.L663V XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.L286V|XRRA1_uc001ovo.2_Missense_Mutation_p.L271V|XRRA1_uc001ovq.3_Missense_Mutation_p.L576V|XRRA1_uc001ovp.3_Missense_Mutation_p.L388V|XRRA1_uc001ovr.2_Missense_Mutation_p.L286V|XRRA1_uc001ovs.1_Missense_Mutation_p.L265V NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 663 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 GGTTTCTGAAGAGTGTCCAGC 0.502 89 640 --- --- --- --- PASS KLHL35 283212 broad.mit.edu 37 11 75139655 75139655 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:75139655C>T uc001owm.1 - 2 457 c.238G>A c.(238-240)GAA>AAA p.E80K NM_001039548 NP_001034637 Q6PF15 KLH35_HUMAN kelch-like 35 80 0 ACGATCACTTCAGCTAGGTCC 0.627 4 88 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76371468 76371468 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:76371468G>A uc001oxq.3 - 3 1412 c.1169C>T c.(1168-1170)ACG>ATG p.T390M LRRC32_uc001oxr.3_Missense_Mutation_p.T390M|LRRC32_uc010rsf.1_Missense_Mutation_p.T390M NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 390 LRR 14.|Extracellular (Potential). integral to plasma membrane 0 TAGGAGCAGCGTCCGCAGAGA 0.647 8 42 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76885810 76885810 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:76885810C>A uc001oyb.2 + 17 2216 c.1944C>A c.(1942-1944)GAC>GAA p.D648E MYO7A_uc010rsl.1_Missense_Mutation_p.D648E|MYO7A_uc010rsm.1_Missense_Mutation_p.D637E|MYO7A_uc001oyc.2_Missense_Mutation_p.D648E|MYO7A_uc001oyd.2_5'UTR NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 648 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 AGCTGTTCGACCGGCACCTGT 0.617 7 23 --- --- --- --- PASS ALG8 79053 broad.mit.edu 37 11 77835150 77835150 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:77835150C>G uc001oza.1 - 3 350 c.285G>C c.(283-285)TTG>TTC p.L95F ALG8_uc001oyz.1_Missense_Mutation_p.L95F|ALG8_uc009yux.1_5'UTR|ALG8_uc009yuy.1_RNA NM_024079 NP_076984 Q9BVK2 ALG8_HUMAN dolichyl pyrophosphate Glc1Man9GlcNAc2 95 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) TGGAGTAATTCAAATTATGGA 0.403 15 345 --- --- --- --- PASS USP35 57558 broad.mit.edu 37 11 77907956 77907956 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:77907956C>T uc009yva.1 + 2 911 c.665C>T c.(664-666)TCC>TTC p.S222F USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 222 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GCAGTCATCTCCTGCGCAGGT 0.692 4 20 --- --- --- --- PASS NARS2 79731 broad.mit.edu 37 11 78176982 78176982 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:78176982A>C uc001ozi.2 - 11 1480 c.1104T>G c.(1102-1104)AAT>AAG p.N368K NARS2_uc010rsq.1_Missense_Mutation_p.N141K NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 368 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) TTAATGGATAATTAATAACGA 0.413 12 226 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78369130 78369130 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:78369130C>G uc001ozl.3 - 34 8746 c.8283G>C c.(8281-8283)ATG>ATC p.M2761I ODZ4_uc001ozk.3_Missense_Mutation_p.M986I|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2761 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CGCTCTGTCTCATGAAGTGGA 0.537 81 732 --- --- --- --- PASS CCDC89 220388 broad.mit.edu 37 11 85397140 85397140 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:85397140G>C uc001pau.1 - 1 181 c.34C>G c.(34-36)CCC>GCC p.P12A NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 12 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCCATCCTGGGAGCCTGCTGT 0.522 5 399 --- --- --- --- PASS ME3 10873 broad.mit.edu 37 11 86158109 86158109 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:86158109C>T uc001pbz.2 - 11 1632 c.1378G>A c.(1378-1380)GAG>AAG p.E460K ME3_uc001pca.2_Missense_Mutation_p.E460K|ME3_uc009yvk.2_Missense_Mutation_p.E460K NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 460 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CCGCTGACCTCGGTGACCCGG 0.478 7 158 --- --- --- --- PASS TMEM135 65084 broad.mit.edu 37 11 87024486 87024486 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:87024486G>T uc001pch.2 + 11 979 c.956G>T c.(955-957)CGC>CTC p.R319L TMEM135_uc010rtt.1_Missense_Mutation_p.R180L|TMEM135_uc001pci.2_Missense_Mutation_p.R297L NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 319 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGCTTCCTGCGCTGGATCAGA 0.294 69 325 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780474 88780474 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:88780474C>T uc001pcq.2 - 1 767 c.567G>A c.(565-567)ATG>ATA p.M189I GRM5_uc009yvm.2_Missense_Mutation_p.M189I|GRM5_uc009yvn.1_Missense_Mutation_p.M189I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 189 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCACAACCCTCATGAAATATT 0.468 14 326 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92714695 92714695 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:92714695C>A uc001pdk.1 + 2 409 c.306C>A c.(304-306)TTC>TTA p.F102L NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 102 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TGGCCATCTTCTATGACGGCT 0.572 106 311 --- --- --- --- PASS ENDOD1 23052 broad.mit.edu 37 11 94862660 94862660 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:94862660C>G uc001pfh.2 + 2 1495 c.1420C>G c.(1420-1422)CTG>GTG p.L474V NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 474 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TTTTGGTACCCTGGGTGGCCT 0.463 31 204 --- --- --- --- PASS PPP2R1B 5519 broad.mit.edu 37 11 111597721 111597721 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:111597721C>T uc001plw.1 - 16 2056 c.1972G>A c.(1972-1974)GAG>AAG p.E658K uc001plu.1_5'Flank|PPP2R1B_uc009yye.1_RNA|PPP2R1B_uc010rwi.1_Missense_Mutation_p.E594K NM_181699 NP_859050 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein Error:Variant_position_missing_in_P30154_after_alignment protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TGCACTAGCTCTGCAATTCCC 0.443 45 55 --- --- --- --- PASS FDXACB1 91893 broad.mit.edu 37 11 111746170 111746170 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:111746170G>T uc001pmc.3 - 5 1648 c.1351C>A c.(1351-1353)CGT>AGT p.R451S ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R302S NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 451 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 GTCTTCACACGAATCATATAA 0.398 61 108 --- --- --- --- PASS PIH1D2 120379 broad.mit.edu 37 11 111942410 111942410 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:111942410G>C uc001pmq.3 - 3 332 c.250C>G c.(250-252)CAT>GAT p.H84D PIH1D2_uc009yyl.2_Missense_Mutation_p.H84D|PIH1D2_uc001pmp.3_Missense_Mutation_p.H84D|PIH1D2_uc010rws.1_Missense_Mutation_p.H84D|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 84 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) GGTACTGGATGAGTGGTTGAT 0.368 8 186 --- --- --- --- PASS UBE4A 9354 broad.mit.edu 37 11 118267127 118267127 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:118267127G>A uc001psw.2 + 20 3302 c.3173G>A c.(3172-3174)AGG>AAG p.R1058K UBE4A_uc001psv.2_Missense_Mutation_p.R1065K NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1058 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CTTGCAGAGAGGAAACAACAA 0.433 17 123 --- --- --- --- PASS H2AFX 3014 broad.mit.edu 37 11 118965713 118965713 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:118965713G>A uc001pvg.2 - 1 465 c.392C>T c.(391-393)TCG>TTG p.S131L H2AFX_uc001pvh.1_RNA NM_002105 NP_002096 P16104 H2AX_HUMAN H2A histone family, member X 131 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CTTGCCGCCCGAGGGCGCCTT 0.592 Chromatin_Structure|Direct_reversal_of_damage OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 54 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189674 124189674 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:124189674G>T uc010sah.1 - 1 420 c.420C>A c.(418-420)GTC>GTA p.V140V NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTATGGAACAGACCCTGTGGG 0.468 30 70 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124412888 124412888 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:124412888G>T uc010sam.1 - 1 663 c.663C>A c.(661-663)CTC>CTA p.L221L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GAATGCTGGAGAGGATGAGGG 0.438 18 39 --- --- --- --- PASS ESAM 90952 broad.mit.edu 37 11 124623562 124623562 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:124623562G>C uc001qav.3 - 7 1326 c.1153C>G c.(1153-1155)CAA>GAA p.Q385E VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.Q312E|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_3'UTR NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 385 Cytoplasmic (Potential). blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GAGCCAGCTTGACTCTGGGCA 0.572 28 52 --- --- --- --- PASS CDON 50937 broad.mit.edu 37 11 125867216 125867216 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:125867216G>C uc009zbw.2 - 12 2376 c.2248C>G c.(2248-2250)CCA>GCA p.P750A CDON_uc001qdb.3_Missense_Mutation_p.P127A|CDON_uc001qdc.3_Missense_Mutation_p.P750A NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 750 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GCAGTGATTGGAGAACCCCCG 0.507 51 49 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129787090 129787090 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr11:129787090C>T uc001qfm.2 - 16 2501 c.2269G>A c.(2269-2271)GAG>AAG p.E757K PRDM10_uc001qfj.2_Missense_Mutation_p.E671K|PRDM10_uc001qfk.2_Missense_Mutation_p.E667K|PRDM10_uc001qfl.2_Missense_Mutation_p.E671K|PRDM10_uc010sbx.1_Missense_Mutation_p.E667K|PRDM10_uc001qfn.2_Missense_Mutation_p.E753K|PRDM10_uc009zcs.1_5'Flank NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 757 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) TCTGGCACCTCTTCTATCTTC 0.383 79 100 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 968625 968625 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:968625G>A uc001qio.3 + 6 2122 c.1615G>A c.(1615-1617)GAA>AAA p.E539K WNK1_uc001qip.3_Missense_Mutation_p.E539K|WNK1_uc001qir.3_5'Flank NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 539 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGTTGCACAAGAAATGGTAAA 0.294 95 218 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 993358 993358 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:993358G>A uc001qio.3 + 18 4300 c.3793G>A c.(3793-3795)GAA>AAA p.E1265K WNK1_uc001qip.3_Missense_Mutation_p.E1018K|WNK1_uc001qir.3_Missense_Mutation_p.E438K NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1265 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCCTGTGCCAGAAAGCCGATT 0.408 31 396 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 994443 994443 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:994443A>G uc001qio.3 + 19 4980 c.4473A>G c.(4471-4473)TCA>TCG p.S1491S WNK1_uc001qip.3_Silent_p.S1244S|WNK1_uc001qir.3_Silent_p.S664S NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1491 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CATTAACATCAGTTTCTACCA 0.517 16 438 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1987508 1987508 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:1987508G>T uc001qjp.2 - 16 1923 c.1692C>A c.(1690-1692)ATC>ATA p.I564I CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.I452I NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 564 Cache.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GATGGGAGAGGATGTAGCCAT 0.527 14 9 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2786995 2786995 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:2786995G>C uc009zdu.1 + 43 5510 c.5197G>C c.(5197-5199)GAG>CAG p.E1733Q CACNA1C_uc009zdv.1_Missense_Mutation_p.E1682Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E1674Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1693Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1691Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1726Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1693Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1733Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E1705Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1702Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1713Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E1685Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1704Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1421Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1410Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E376Q|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.E3Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1733 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGCCATGAAGGAGGCTGTGTC 0.587 9 133 --- --- --- --- PASS TULP3 7289 broad.mit.edu 37 12 3040350 3040350 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:3040350G>C uc010seh.1 + 6 721 c.640G>C c.(640-642)GAT>CAT p.D214H TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D214H|TULP3_uc010sei.1_Missense_Mutation_p.D71H NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 214 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AAGGGGAATGGATCGGGGTCT 0.443 73 177 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4725047 4725047 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:4725047G>A uc001qnb.3 - 5 2649 c.2420C>T c.(2419-2421)TCA>TTA p.S807L NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 807 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AGCAGCAGCTGAGAGCTGAAG 0.582 66 143 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7469741 7469741 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:7469741C>G uc001qsx.1 + 4 629 c.629C>G c.(628-630)TCT>TGT p.S210C NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 210 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 AGATTCGCCTCTGAAGAGCAC 0.483 3 76 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7525937 7525937 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:7525937C>G uc001qsy.2 - 14 3735 c.3709G>C c.(3709-3711)GAG>CAG p.E1237Q CD163L1_uc010sge.1_Missense_Mutation_p.E1247Q NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1237 SRCR 11.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ATCCAGGTCTCTTCTGCTGGG 0.458 29 131 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7586033 7586033 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:7586033G>C uc001qsy.2 - 3 408 c.382C>G c.(382-384)CAA>GAA p.Q128E CD163L1_uc010sge.1_Missense_Mutation_p.Q128E NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 128 SRCR 1.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TCCCGGTGTTGACATTCCCAG 0.433 8 209 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7635290 7635290 + Missense_Mutation SNP C T T rs139478533 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:7635290C>T uc001qsz.3 - 14 3324 c.3196G>A c.(3196-3198)GTC>ATC p.V1066I CD163_uc001qta.3_Missense_Mutation_p.V1066I|CD163_uc009zfw.2_Missense_Mutation_p.V1099I NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1066 Helical; (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AATAATGCGACGAAAATGGCC 0.423 63 286 --- --- --- --- PASS ARHGDIB 397 broad.mit.edu 37 12 15095465 15095465 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:15095465C>T uc001rcq.1 - 6 701 c.597G>A c.(595-597)TGG>TGA p.W199* ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 199 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 TTCATTCTGTCCACTCCTTCT 0.567 13 255 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15732973 15732973 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:15732973A>G uc001rcv.1 + 21 3095 c.2921A>G c.(2920-2922)TAT>TGT p.Y974C PTPRO_uc001rcw.1_Missense_Mutation_p.Y946C|PTPRO_uc001rcx.1_Missense_Mutation_p.Y163C|PTPRO_uc001rcy.1_Missense_Mutation_p.Y163C|PTPRO_uc001rcz.1_Missense_Mutation_p.Y135C|PTPRO_uc001rda.1_Missense_Mutation_p.Y135C NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 974 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TTCTCTACAGATGACTTCAGC 0.343 53 110 --- --- --- --- PASS EPS8 2059 broad.mit.edu 37 12 15784501 15784501 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:15784501G>C uc009zif.2 - 18 2013 c.1919C>G c.(1918-1920)TCC>TGC p.S640C EPS8_uc001rdb.2_Missense_Mutation_p.S640C|EPS8_uc009zig.2_Missense_Mutation_p.S380C|EPS8_uc010shv.1_Missense_Mutation_p.S380C NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 640 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGCTGGAGTGGAAGGGGGAAG 0.542 125 180 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18854647 18854647 + Nonsense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:18854647T>A uc010sid.1 - 8 1119 c.928A>T c.(928-930)AGA>TGA p.R310* PLCZ1_uc001rdv.3_Nonsense_Mutation_p.R206*|PLCZ1_uc001rdw.3_Nonsense_Mutation_p.R51*|PLCZ1_uc001rdu.1_Nonsense_Mutation_p.R51*|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 310 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAACCTTTTCTTTCATGGGTT 0.269 48 33 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21008097 21008097 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:21008097G>A uc001rek.2 + 3 346 c.220G>A c.(220-222)GAA>AAA p.E74K SLCO1B3_uc001rel.2_Missense_Mutation_p.E74K|SLCO1B3_uc010sil.1_Missense_Mutation_p.E74K|LST-3TM12_uc010sim.1_Missense_Mutation_p.E74K NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 74 Helical; Name=2; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGGAAGCTTTGAAATTGGTAA 0.274 11 103 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21919017 21919017 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:21919017G>A uc001rff.2 - 3 1253 c.915C>T c.(913-915)ATC>ATT p.I305I NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 305 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CTTGTGTGGTGATGCCAGTAG 0.498 12 233 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21919230 21919230 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:21919230A>G uc001rff.2 - 3 1040 c.702T>C c.(700-702)ACT>ACC p.T234T NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 234 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CTTCAGGTGTAGTTGTTTTCT 0.478 5 323 --- --- --- --- PASS YARS2 51067 broad.mit.edu 37 12 32900274 32900274 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:32900274C>G uc001rli.2 - 5 1364 c.1298G>C c.(1297-1299)GGA>GCA p.G433A NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 433 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TATGCTGACTCCGCCTTCTGT 0.348 5 397 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 32975454 32975454 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:32975454C>T uc001rlj.3 - 9 2033 c.1918G>A c.(1918-1920)GAC>AAC p.D640N PKP2_uc001rlk.3_Missense_Mutation_p.D596N|PKP2_uc010skj.1_Missense_Mutation_p.D596N NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 640 cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TTGTTGTTGTCAGTCTGGATA 0.403 12 306 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39726900 39726900 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:39726900G>C uc001rly.2 - 19 2643 c.2497C>G c.(2497-2499)CTT>GTT p.L833V KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.L150V|KIF21A_uc001rlx.2_Missense_Mutation_p.L820V|KIF21A_uc001rlz.2_Missense_Mutation_p.L797V|KIF21A_uc010skl.1_Missense_Mutation_p.L820V NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 833 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TGCCGACGAAGAGCCGTAACC 0.448 38 240 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 39980068 39980068 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:39980068G>C uc001rmb.2 - 7 2104 c.1678C>G c.(1678-1680)CAA>GAA p.Q560E NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 560 ABC transporter. 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 TAAATGACTTGATCCCGAAGA 0.398 89 146 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40619421 40619421 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:40619421G>A uc001rmg.3 + 2 337 c.216G>A c.(214-216)ATG>ATA p.M72I NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 72 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ACTCCTATATGAGAGTCGCGA 0.438 5 105 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40689242 40689242 + Silent SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:40689242T>G uc001rmg.3 + 23 3013 c.2892T>G c.(2890-2892)CTT>CTG p.L964L LRRK2_uc001rmh.1_Silent_p.L586L|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 964 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CATCAAAACTTCAATCCCATA 0.264 8 149 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41410677 41410677 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:41410677G>C uc001rmm.1 + 19 2491 c.2378G>C c.(2377-2379)GGA>GCA p.G793A CNTN1_uc001rmn.1_Missense_Mutation_p.G782A NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 793 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAAGGAGATGGACCTTACAGC 0.433 17 127 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42862463 42862463 + Missense_Mutation SNP C G G rs61924369 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:42862463C>G uc010skv.1 - 5 840 c.553G>C c.(553-555)GAA>CAA p.E185Q PRICKLE1_uc001rnl.2_Missense_Mutation_p.E185Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.E185Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.E185Q NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 185 LIM zinc-binding 1. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TTGAGCAGTTCTGCATGGTGC 0.433 6 142 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45568035 45568035 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:45568035C>A uc001rom.1 - 3 651 c.114G>T c.(112-114)TTG>TTT p.L38F PLEKHA9_uc009zke.2_Missense_Mutation_p.L38F NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TTGATTTCAGCAAAGTTCCCA 0.453 228 319 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46123889 46123889 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:46123889C>T uc001ros.1 + 2 155 c.155C>T c.(154-156)ACC>ATC p.T52I ARID2_uc001ror.2_Missense_Mutation_p.T52I|LOC400027_uc001roq.2_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 52 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGTCTCTACACCAGAGTCACT 0.527 55 78 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46245204 46245204 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:46245204C>G uc001ros.1 + 15 3298 c.3298C>G c.(3298-3300)CAG>GAG p.Q1100E ARID2_uc001ror.2_Missense_Mutation_p.Q1100E|ARID2_uc009zkg.1_Missense_Mutation_p.Q556E|ARID2_uc009zkh.1_Missense_Mutation_p.Q727E|ARID2_uc001rou.1_Missense_Mutation_p.Q434E NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1100 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGTGGTCTATCAGGTGGCCAG 0.532 12 147 --- --- --- --- PASS RPAP3 79657 broad.mit.edu 37 12 48084348 48084348 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:48084348C>T uc001rpr.2 - 6 736 c.620G>A c.(619-621)CGA>CAA p.R207Q RPAP3_uc010slk.1_Missense_Mutation_p.R48Q|RPAP3_uc001rps.2_Missense_Mutation_p.R207Q NM_024604 NP_078880 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 isoform 207 TPR 4. binding ovary(1) 1 Lung SC(27;0.192) AGCAGCACCTCGTCTGGAATA 0.333 108 442 --- --- --- --- PASS RAPGEF3 10411 broad.mit.edu 37 12 48131351 48131351 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:48131351C>T uc009zkp.2 - 27 3085 c.2645G>A c.(2644-2646)TGA>TAA p.*882* uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Silent_p.*217*|RAPGEF3_uc001rpx.2_Silent_p.*339*|RAPGEF3_uc010sln.1_Silent_p.*379*|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.*882*|RAPGEF3_uc001rpz.3_Silent_p.*924* NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 882 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) AGCCCCTCCTCATGGCTCCAG 0.647 9 15 --- --- --- --- PASS SENP1 29843 broad.mit.edu 37 12 48457586 48457586 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:48457586C>T uc001rqx.2 - 13 1760 c.1314G>A c.(1312-1314)GGG>GGA p.G438G SENP1_uc001rqw.2_Silent_p.G438G|SENP1_uc001rqy.2_Silent_p.G239G|SENP1_uc001rqz.2_Silent_p.G239G|SENP1_uc009zkx.2_Silent_p.G438G NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 438 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) CATCCTGATTCCCATTACGAA 0.378 17 76 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49442443 49442443 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:49442443T>C uc001rta.3 - 13 4130 c.4130A>G c.(4129-4131)CAG>CGG p.Q1377R NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1377 PHD-type 3. 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 GTATGGTACCTGCATTAGGAC 0.463 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 182 300 --- --- --- --- PASS DHH 50846 broad.mit.edu 37 12 49488131 49488131 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:49488131C>A uc001rtf.2 - 1 472 c.165G>T c.(163-165)CGG>CGT p.R55R NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 55 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 CGCCCAGGGTCCGCTCTGGCA 0.602 18 88 --- --- --- --- PASS DHH 50846 broad.mit.edu 37 12 49488136 49488136 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:49488136C>G uc001rtf.2 - 1 467 c.160G>C c.(160-162)GAG>CAG p.E54Q NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 54 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 AGGGTCCGCTCTGGCACGCCG 0.602 17 90 --- --- --- --- PASS AQP5 362 broad.mit.edu 37 12 50356011 50356011 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:50356011G>T uc001rvo.2 + 1 733 c.211G>T c.(211-213)GCC>TCC p.A71S NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 71 Cytoplasmic (Potential).|NPA 1. carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 CATCAACCCCGCCATCACCCT 0.692 16 31 --- --- --- --- PASS SMARCD1 6602 broad.mit.edu 37 12 50482376 50482376 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:50482376G>A uc001rvx.3 + 6 897 c.727G>A c.(727-729)GAA>AAA p.E243K SMARCD1_uc010smo.1_Missense_Mutation_p.E243K|SMARCD1_uc001rvy.3_Missense_Mutation_p.E243K|SMARCD1_uc009zlp.2_Missense_Mutation_p.E202K NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN SWI/SNF-related matrix-associated 243 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity ovary(1) 1 CTTGGTGATTGAACTGGACAA 0.423 17 151 --- --- --- --- PASS SCN8A 6334 broad.mit.edu 37 12 52099357 52099357 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:52099357G>A uc001ryw.2 + 10 1469 c.1291G>A c.(1291-1293)GAA>AAA p.E431K SCN8A_uc010snl.1_Missense_Mutation_p.E296K|SCN8A_uc001ryx.1_Missense_Mutation_p.E296K|SCN8A_uc001ryz.1_Missense_Mutation_p.E296K|SCN8A_uc001ryy.2_Missense_Mutation_p.E296K NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 431 I. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AAAAGAGGCTGAATTTAAAGC 0.453 5 58 --- --- --- --- PASS KRT85 3891 broad.mit.edu 37 12 52760965 52760965 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:52760965G>T uc001sag.2 - 1 345 c.225C>A c.(223-225)TCC>TCA p.S75S NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 75 Head. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGCGTCCGCAGGAGCCGGCTC 0.697 15 26 --- --- --- --- PASS ITGB7 3695 broad.mit.edu 37 12 53590369 53590369 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:53590369G>T uc009zmv.2 - 5 881 c.810C>A c.(808-810)CTC>CTA p.L270L ITGB7_uc001scc.2_Silent_p.L270L|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 270 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 TCACCTGGCAGAGTGCAGCCT 0.532 18 39 --- --- --- --- PASS PFDN5 5204 broad.mit.edu 37 12 53689355 53689355 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:53689355G>T uc001scl.2 + 1 121 c.4G>T c.(4-6)GCG>TCG p.A2S PFDN5_uc001scm.2_Missense_Mutation_p.A2S|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA NM_002624 NP_002615 Q99471 PFD5_HUMAN prefoldin subunit 5 isoform alpha 2 '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 TCCCAACATGGCGCAGTCTAT 0.617 56 149 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53818148 53818148 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:53818148G>A uc001scx.1 + 2 204 c.126G>A c.(124-126)CTG>CTA p.L42L AMHR2_uc009zmy.1_Silent_p.L42L NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 42 Extracellular (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) TGGGAGAGCTGCTAGATACAG 0.602 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 34 52 --- --- --- --- PASS HOXC9 3225 broad.mit.edu 37 12 54396299 54396299 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:54396299G>A uc001sep.2 + 3 722 c.624G>A c.(622-624)GAG>GAA p.E208E HOXC9_uc001seq.2_Silent_p.E208E NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 208 Homeobox. multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 TGGAACTGGAGAAGGAGTTTC 0.557 6 202 --- --- --- --- PASS HOXC6 3223 broad.mit.edu 37 12 54423608 54423608 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:54423608G>T uc001sev.2 + 2 682 c.570G>T c.(568-570)CAG>CAT p.Q190H HOXC6_uc001ses.2_Missense_Mutation_p.Q108H|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 190 Homeobox. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 TCTGGTTCCAGAACCGCCGGA 0.572 38 134 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54902176 54902176 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:54902176C>G uc001sgc.3 + 5 446 c.367C>G c.(367-369)CTC>GTC p.L123V NCKAP1L_uc010sox.1_Translation_Start_Site|NCKAP1L_uc010soy.1_Missense_Mutation_p.L73V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 123 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CTTGTAGAATCTCAACTTTGA 0.433 54 578 --- --- --- --- PASS MMP19 4327 broad.mit.edu 37 12 56233310 56233310 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:56233310C>G uc001sib.2 - 5 857 c.736G>C c.(736-738)GAT>CAT p.D246H MMP19_uc001sia.2_5'UTR|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Intron NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 246 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 GCCACATCATCTGGGTGCAGC 0.607 12 87 --- --- --- --- PASS RAB5B 5869 broad.mit.edu 37 12 56384536 56384536 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:56384536C>T uc001siv.2 + 4 503 c.386C>T c.(385-387)GCC>GTC p.A129V RAB5B_uc001siw.2_Missense_Mutation_p.A129V|RAB5B_uc009zog.2_Missense_Mutation_p.A69V|RAB5B_uc010spz.1_Intron NM_002868 NP_002859 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 129 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) ATCGTTATTGCCCTGGCAGGG 0.512 5 295 --- --- --- --- PASS ESYT1 23344 broad.mit.edu 37 12 56527954 56527954 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:56527954C>G uc001sjq.2 + 14 1584 c.1534C>G c.(1534-1536)CAG>GAG p.Q512E ESYT1_uc001sjr.2_Missense_Mutation_p.Q522E NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 512 C2 2. integral to membrane ovary(4)|skin(1) 5 GGATGTGACTCAGGAGAGCAA 0.517 19 91 --- --- --- --- PASS RNF41 10193 broad.mit.edu 37 12 56600432 56600432 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:56600432G>T uc001skf.1 - 7 1122 c.753C>A c.(751-753)CAC>CAA p.H251Q RNF41_uc001ske.1_Missense_Mutation_p.H180Q|RNF41_uc001skg.1_Missense_Mutation_p.H251Q|RNF41_uc010sqg.1_Missense_Mutation_p.H186Q|RNF41_uc010sqh.1_Missense_Mutation_p.H180Q NM_005785 NP_005776 Q9H4P4 RNF41_HUMAN ring finger protein 41 isoform 1 251 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 AGCTACGCTCGTGGGCATTTT 0.562 OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 105 --- --- --- --- PASS GLS2 27165 broad.mit.edu 37 12 56869734 56869734 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:56869734C>G uc001slj.2 - 8 1144 c.865G>C c.(865-867)GAT>CAT p.D289H GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.D24H|GLS2_uc009zot.2_Intron NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 289 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTACAAAATCAAACTTCTCT 0.502 4 91 --- --- --- --- PASS MARS 4141 broad.mit.edu 37 12 57884123 57884123 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:57884123C>G uc001sog.2 + 6 647 c.624C>G c.(622-624)CCC>CCG p.P208P ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Silent_p.P81P|MARS_uc010srq.1_5'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 208 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) AGCCCCAGCCCAGCCCCGCTG 0.592 21 376 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62954271 62954271 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:62954271G>A uc001sre.2 + 26 3801 c.3410G>A c.(3409-3411)GGA>GAA p.G1137E MON2_uc009zqj.2_Missense_Mutation_p.G1137E|MON2_uc010ssl.1_Missense_Mutation_p.G1065E|MON2_uc010ssm.1_Missense_Mutation_p.G1114E|MON2_uc010ssn.1_Missense_Mutation_p.G1137E|MON2_uc001srf.2_Missense_Mutation_p.G900E|MON2_uc001srg.2_Missense_Mutation_p.G12E NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1138 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CCTAATATAGGAGATTTTTCA 0.338 28 193 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62972245 62972245 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:62972245C>T uc001sre.2 + 31 4926 c.4535C>T c.(4534-4536)TCT>TTT p.S1512F MON2_uc009zqj.2_Missense_Mutation_p.S1512F|MON2_uc010ssl.1_Missense_Mutation_p.S1440F|MON2_uc010ssm.1_Missense_Mutation_p.S1483F|MON2_uc010ssn.1_Missense_Mutation_p.S1506F|MON2_uc001srf.2_Missense_Mutation_p.S1275F|MON2_uc001srg.2_Missense_Mutation_p.S381F NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1513 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GATAATCTCTCTATTCAAGAG 0.269 5 53 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81111108 81111108 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:81111108C>G uc001szg.2 + 1 401 c.266C>G c.(265-267)ACT>AGT p.T89S NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 89 Basic 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 AAGGCAGCCACTATGCGCGAG 0.627 3 36 --- --- --- --- PASS SLC6A15 55117 broad.mit.edu 37 12 85255544 85255544 + Missense_Mutation SNP G C C rs141349631 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:85255544G>C uc001szv.2 - 12 2553 c.2060C>G c.(2059-2061)TCT>TGT p.S687C SLC6A15_uc010sul.1_Missense_Mutation_p.S580C|SLC6A15_uc001szw.1_3'UTR NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 687 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 AAAATTTGGAGATGGCATCTC 0.448 47 244 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88390363 88390363 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:88390363T>C uc001tam.1 - 5 518 c.350A>G c.(349-351)GAG>GGG p.E117G C12orf50_uc001tan.2_Missense_Mutation_p.E171G NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 117 skin(2)|ovary(1) 3 ATAACACATCTCCTTTATTGC 0.284 29 98 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88420369 88420369 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:88420369G>A uc001tam.1 - 3 197 c.29C>T c.(28-30)TCA>TTA p.S10L C12orf50_uc001tan.2_Missense_Mutation_p.S64L NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 10 skin(2)|ovary(1) 3 CCAGAAGCATGAAATGCTGCA 0.378 29 72 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94543548 94543548 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:94543548C>G uc001tdc.2 + 1 1050 c.801C>G c.(799-801)ATC>ATG p.I267M NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 267 Extracellular (Potential).|Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TGGCGCGCATCGCGCAGAGCA 0.682 5 36 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94575247 94575247 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:94575247C>G uc001tdc.2 + 3 1478 c.1229C>G c.(1228-1230)TCA>TGA p.S410* NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 410 Extracellular (Potential).|Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AATTTGACTTCAAATTGTCCA 0.254 23 188 --- --- --- --- PASS NR1H4 9971 broad.mit.edu 37 12 100904848 100904848 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:100904848T>A uc001tht.1 + 2 430 c.402T>A c.(400-402)GAT>GAA p.D134E NR1H4_uc001thp.1_Missense_Mutation_p.D124E|NR1H4_uc001thq.1_Missense_Mutation_p.D124E|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.D124E|NR1H4_uc010svk.1_Missense_Mutation_p.D124E|NR1H4_uc001ths.1_Missense_Mutation_p.D134E NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 134 Nuclear receptor. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TCAAAGGGGATGAGCTGTGTG 0.512 76 179 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101763603 101763603 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:101763603G>A uc001tia.1 + 49 6645 c.6489G>A c.(6487-6489)CTG>CTA p.L2163L NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2163 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TCCTTCTGCTGAAGGACTATG 0.507 50 275 --- --- --- --- PASS CHPT1 56994 broad.mit.edu 37 12 102116979 102116979 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:102116979G>A uc001tin.2 + 6 1037 c.814G>A c.(814-816)GGA>AGA p.G272R CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G272R NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 272 Helical; (Potential). platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 ACTCCACATAGGACTAATTAT 0.318 11 178 --- --- --- --- PASS GNPTAB 79158 broad.mit.edu 37 12 102158651 102158651 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:102158651C>A uc001tit.2 - 13 2223 c.2044G>T c.(2044-2046)GAT>TAT p.D682Y NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 682 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 GAGTTAACATCATGTCTCTTA 0.413 24 122 --- --- --- --- PASS MAPKAPK5 8550 broad.mit.edu 37 12 112318306 112318306 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:112318306C>A uc001tta.2 + 8 894 c.635C>A c.(634-636)TCA>TAA p.S212* MAPKAPK5_uc001tsz.2_Nonsense_Mutation_p.S212*|MAPKAPK5_uc001ttb.2_Nonsense_Mutation_p.S145* NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 212 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 ATACCTACCTCACCGACGCCC 0.478 34 71 --- --- --- --- PASS RPH3A 22895 broad.mit.edu 37 12 113307575 113307575 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:113307575G>C uc010syl.1 + 9 984 c.622G>C c.(622-624)GAT>CAT p.D208H RPH3A_uc001ttz.2_Missense_Mutation_p.D208H|RPH3A_uc001tty.2_Missense_Mutation_p.D204H|RPH3A_uc009zwe.1_Missense_Mutation_p.D204H|RPH3A_uc010sym.1_Missense_Mutation_p.D159H|RPH3A_uc001tua.2_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 208 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGACAGTGAAGATAGGAGGGG 0.463 50 135 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113553030 113553030 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:113553030G>C uc001tum.1 - 12 1336 c.1043C>G c.(1042-1044)TCC>TGC p.S348C RASAL1_uc010syp.1_Missense_Mutation_p.S348C|RASAL1_uc001tul.2_Missense_Mutation_p.S348C|RASAL1_uc001tun.1_Missense_Mutation_p.S348C|RASAL1_uc010syq.1_Missense_Mutation_p.S348C|RASAL1_uc001tuo.3_Missense_Mutation_p.S348C|RASAL1_uc010syr.1_Missense_Mutation_p.S348C NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 348 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 CATCGACTTGGATGCCAGGGA 0.582 25 251 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116408434 116408434 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:116408434T>A uc001tvw.2 - 27 6087 c.6032A>T c.(6031-6033)AAC>ATC p.N2011I NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2011 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ATTGGGGTAGTTGGCTGGAGC 0.498 23 202 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117680494 117680494 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:117680494G>T uc001twm.1 - 20 3665 c.2979C>A c.(2977-2979)CAC>CAA p.H993Q NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 993 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCGCTTTTTGTGGACATTGG 0.453 15 74 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120576213 120576213 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:120576213C>T uc001txo.2 - 47 6176 c.6163G>A c.(6163-6165)GAG>AAG p.E2055K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2055 HEAT 18. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACACCTCCTCGTCATCCTGC 0.532 29 76 --- --- --- --- PASS MORN3 283385 broad.mit.edu 37 12 122107252 122107252 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:122107252C>T uc001uax.2 - 1 309 c.138G>A c.(136-138)GTG>GTA p.V46V MORN3_uc001uay.2_RNA NM_173855 NP_776254 Q6PF18 MORN3_HUMAN MORN repeat containing 3 46 MORN 1. 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CACCGTGTTTCACGTTGTCCT 0.642 OREG0022205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 121 --- --- --- --- PASS KNTC1 9735 broad.mit.edu 37 12 123042002 123042002 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:123042002G>C uc001ucv.2 + 17 1507 c.1344G>C c.(1342-1344)CAG>CAC p.Q448H KNTC1_uc010taf.1_Missense_Mutation_p.Q411H NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 448 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.Q448H(1) ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCAGTGAACAGACCGAATGGC 0.388 20 57 --- --- --- --- PASS GPR109B 8843 broad.mit.edu 37 12 123201053 123201053 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:123201053T>A uc001ucy.3 - 1 387 c.232A>T c.(232-234)ATC>TTC p.I78F GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 78 Helical; Name=2; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GGCAGGCAGATGATCAGTAGA 0.522 3 41 --- --- --- --- PASS MPHOSPH9 10198 broad.mit.edu 37 12 123645802 123645802 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:123645802C>T uc001uel.2 - 18 2913 c.2806G>A c.(2806-2808)GAA>AAA p.E936K MPHOSPH9_uc010tal.1_Missense_Mutation_p.E390K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E390K NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 936 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTACACTGTTCGTAGCTAACT 0.418 7 245 --- --- --- --- PASS MPHOSPH9 10198 broad.mit.edu 37 12 123645826 123645826 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:123645826C>G uc001uel.2 - 18 2889 c.2782G>C c.(2782-2784)GAG>CAG p.E928Q MPHOSPH9_uc010tal.1_Missense_Mutation_p.E382Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E382Q NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 928 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTATTCTTCTCCCAGGCTGTT 0.433 5 261 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125465293 125465293 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:125465293C>G uc001ugy.2 - 4 580 c.481G>C c.(481-483)GAG>CAG p.E161Q NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 161 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) tcctcctcctcctcAGCTGAG 0.577 4 7 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129467578 129467578 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:129467578G>T uc010tbh.1 + 13 1008 c.999G>T c.(997-999)GTG>GTT p.V333V GLT1D1_uc001uhx.1_Silent_p.V248V|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 328 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CATGGCAGGTGGAAAGAGACA 0.483 37 127 --- --- --- --- PASS GLT1D1 144423 broad.mit.edu 37 12 129467579 129467579 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:129467579G>T uc010tbh.1 + 13 1009 c.1000G>T c.(1000-1002)GAA>TAA p.E334* GLT1D1_uc001uhx.1_Nonsense_Mutation_p.E249*|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 329 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) ATGGCAGGTGGAAAGAGACAC 0.488 37 121 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558466 129558466 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:129558466C>T uc009zyl.1 - 9 3582 c.3254G>A c.(3253-3255)TGC>TAC p.C1085Y TMEM132D_uc001uia.2_Missense_Mutation_p.C623Y NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 1085 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CAGCTCTTTGCAGTCCCCAGG 0.512 37 217 --- --- --- --- PASS GPR133 283383 broad.mit.edu 37 12 131602941 131602941 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:131602941C>G uc001uit.3 + 19 2612 c.2053C>G c.(2053-2055)CTG>GTG p.L685V GPR133_uc010tbm.1_Missense_Mutation_p.L717V|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.L204V|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 685 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TTTTCCTCTTCTGATCTGCAT 0.343 38 200 --- --- --- --- PASS NOC4L 79050 broad.mit.edu 37 12 132636740 132636740 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:132636740G>A uc001ujz.1 + 14 1470 c.1429G>A c.(1429-1431)GAG>AAG p.E477K NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog 477 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CACGGCCTACGAGGTGCGGAA 0.652 11 26 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25067872 25067872 + Splice_Site SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:25067872C>T uc001upl.2 - 8 848 c.742_splice c.e8-1 p.L248_splice PARP4_uc010tdc.1_Splice_Site_p.L248_splice NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CCAAAAGCAACTACAATAATA 0.428 7 165 --- --- --- --- PASS MTMR6 9107 broad.mit.edu 37 13 25831403 25831403 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:25831403C>T uc001uqf.3 - 9 1345 c.1026G>A c.(1024-1026)AGG>AGA p.R342R MTMR6_uc001uqe.1_Silent_p.R342R NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 342 Myotubularin phosphatase.|Substrate binding (By similarity). 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) CCTGGGAAGTCCTATCCCAAC 0.373 50 42 --- --- --- --- PASS RNF6 6049 broad.mit.edu 37 13 26788682 26788682 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:26788682G>C uc001uqo.2 - 5 1628 c.1337C>G c.(1336-1338)TCT>TGT p.S446C RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.S446C|RNF6_uc001uqp.2_Missense_Mutation_p.S446C|RNF6_uc001uqq.2_Missense_Mutation_p.S446C|RNF6_uc010tdk.1_Missense_Mutation_p.S90C NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 446 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CTCTAAACGAGAAATGGTTCG 0.443 18 297 --- --- --- --- PASS CDK8 1024 broad.mit.edu 37 13 26971323 26971323 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:26971323A>G uc001uqr.1 + 9 920 c.894A>G c.(892-894)GAA>GAG p.E298E CDK8_uc001uqs.1_Silent_p.E298E|CDK8_uc001uqt.1_Silent_p.E125E NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 298 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGTATATGGAAAAACATAAAG 0.328 8 144 --- --- --- --- PASS PAN3 255967 broad.mit.edu 37 13 28841288 28841288 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:28841288C>G uc001urz.2 + 10 1200 c.1192C>G c.(1192-1194)CAA>GAA p.Q398E PAN3_uc010tdo.1_Missense_Mutation_p.Q544E|PAN3_uc001ury.2_Missense_Mutation_p.Q232E|PAN3_uc001urx.2_Missense_Mutation_p.Q344E NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 544 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GAAGAAAATTCAACACTCAAA 0.388 12 280 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29001395 29001395 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:29001395A>T uc001usb.3 - 10 1622 c.1337T>A c.(1336-1338)CTG>CAG p.L446Q FLT1_uc010aar.1_Missense_Mutation_p.L446Q|FLT1_uc001usc.3_Missense_Mutation_p.L446Q|FLT1_uc010tdp.1_Missense_Mutation_p.L446Q NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 446 Ig-like C2-type 5.|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) TCTGCTGCCCAGTGGGTAGAG 0.502 93 86 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32786485 32786485 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:32786485G>A uc001utx.2 + 35 5144 c.4648G>A c.(4648-4650)GAG>AAG p.E1550K FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1550 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCAGATGCTGAGGAGAACAA 0.373 20 21 --- --- --- --- PASS LHFP 10186 broad.mit.edu 37 13 40175055 40175055 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:40175055G>A uc001uxf.2 - 2 810 c.299C>T c.(298-300)GCG>GTG p.A100V NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 100 Helical; (Potential). integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GGCAGTGAGCGCCACCAGGAG 0.587 T HMGA2 lipoma 10 253 --- --- --- --- PASS KBTBD6 89890 broad.mit.edu 37 13 41706348 41706348 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:41706348G>C uc001uxu.1 - 1 589 c.300C>G c.(298-300)TTC>TTG p.F100L KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Intron|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 100 BTB. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TGCCACCTGTGAACATGCTCT 0.632 7 84 --- --- --- --- PASS MTRF1 9617 broad.mit.edu 37 13 41826881 41826881 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:41826881G>A uc001uxx.2 - 7 1067 c.597C>T c.(595-597)ATC>ATT p.I199I MTRF1_uc001uxy.2_Silent_p.I199I|MTRF1_uc001uxz.2_Silent_p.I35I|MTRF1_uc010tff.1_Silent_p.I212I|MTRF1_uc001uyc.1_Silent_p.I199I NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 199 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) ATTGTTGGCAGATGTCACCTA 0.333 9 105 --- --- --- --- PASS C13orf30 144809 broad.mit.edu 37 13 43362793 43362793 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:43362793C>T uc010tfk.1 + 4 410 c.287C>T c.(286-288)TCA>TTA p.S96L C13orf30_uc010tfl.1_Missense_Mutation_p.S96L NM_182508 NP_872314 Q8N7L0 CM030_HUMAN hypothetical protein LOC144809 96 0 Lung NSC(96;0.000369)|Prostate(109;0.0305)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.000512)|OV - Ovarian serous cystadenocarcinoma(117;0.000563)|BRCA - Breast invasive adenocarcinoma(63;0.0677) AAGAGAGCCTCAGCCAAGGTA 0.448 33 211 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73396017 73396017 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:73396017G>A uc001vjc.2 + 6 1008 c.703G>A c.(703-705)GAA>AAA p.E235K PIBF1_uc001vja.1_Missense_Mutation_p.E235K|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E235K|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 235 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAACTACTCTGAAGTTCAAAT 0.338 34 92 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77759384 77759384 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:77759384G>A uc001vkf.2 - 33 4550 c.4459C>T c.(4459-4461)CAA>TAA p.Q1487* MYCBP2_uc010aev.2_Nonsense_Mutation_p.Q891* NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGATATCCTTGAGGATCATTA 0.383 20 312 --- --- --- --- PASS RNF219 79596 broad.mit.edu 37 13 79216305 79216305 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:79216305C>T uc001vkw.1 - 3 311 c.252G>A c.(250-252)AGG>AGA p.R84R RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.R84R NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 84 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GAAGATGCTTCCTGACCGTAT 0.328 12 278 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329558 88329558 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:88329558C>A uc001vln.2 + 2 2134 c.1915C>A c.(1915-1917)CCT>ACT p.P639T SLITRK5_uc010tic.1_Missense_Mutation_p.P398T NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 639 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CGCCGTGACTCCTGCGGTCCG 0.622 7 139 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92345877 92345877 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:92345877G>T uc010tif.1 + 3 1128 c.762G>T c.(760-762)AAG>AAT p.K254N NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 254 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CCCTCCTGAAGATGCAATACT 0.562 53 57 --- --- --- --- PASS HS6ST3 266722 broad.mit.edu 37 13 97485146 97485146 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:97485146C>T uc001vmw.2 + 2 1134 c.1110C>T c.(1108-1110)CTC>CTT p.L370L NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 370 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) CATTCAACCTCAAGTTCATCT 0.493 30 174 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99042240 99042240 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:99042240G>C uc001vnj.2 + 10 1221 c.885G>C c.(883-885)CTG>CTC p.L295L FARP1_uc001vnh.2_Silent_p.L295L NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 295 FERM. 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) TGGAATTCCTGATGGCCAGTC 0.443 7 315 --- --- --- --- PASS GPR18 2841 broad.mit.edu 37 13 99907182 99907182 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:99907182G>C uc001voe.3 - 3 1446 c.945C>G c.(943-945)TTC>TTG p.F315L UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.F315L NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 315 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TACCAGATCGGAAACTTTTTC 0.358 70 153 --- --- --- --- PASS IRS2 8660 broad.mit.edu 37 13 110434648 110434648 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:110434648G>C uc001vqv.2 - 1 4267 c.3753C>G c.(3751-3753)CTC>CTG p.L1251L NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1251 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CGATGTAGTTGAGACCATTCT 0.517 22 20 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110829259 110829259 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:110829259C>A uc001vqw.3 - 34 2964 c.2842G>T c.(2842-2844)GGC>TGC p.G948C COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 948 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTCTGGCCCTTCATGCTG 0.572 60 80 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110829260 110829260 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:110829260C>A uc001vqw.3 - 34 2963 c.2841G>T c.(2839-2841)AAG>AAT p.K947N COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 947 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTTTCTGGCCCTTCATGCTGC 0.577 63 80 --- --- --- --- PASS ANKRD10 55608 broad.mit.edu 37 13 111532094 111532094 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:111532094C>T uc001vrn.2 - 6 1288 c.1153G>A c.(1153-1155)GAA>AAA p.E385K ANKRD10_uc001vrm.2_Missense_Mutation_p.E122K|ANKRD10_uc001vrl.2_RNA NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 385 central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) GGGATGCTTTCAGCAGTGTCC 0.567 9 117 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113479828 113479828 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:113479828G>A uc001vsi.3 + 11 1045 c.957G>A c.(955-957)CAG>CAA p.Q319Q ATP11A_uc001vsj.3_Silent_p.Q319Q|ATP11A_uc001vsm.1_Silent_p.Q195Q NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 319 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ACATGTGGCAGAGTGAGCCCT 0.463 8 125 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113527915 113527915 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:113527915G>C uc001vsi.3 + 27 3174 c.3086G>C c.(3085-3087)TGG>TCG p.W1029S ATP11A_uc001vsj.3_Missense_Mutation_p.W1029S|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1029 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TACTGGACTTGGATCAACCAT 0.453 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 20 120 --- --- --- --- PASS ZNF828 283489 broad.mit.edu 37 13 115090626 115090626 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr13:115090626C>G uc010ahb.2 + 3 1638 c.1309C>G c.(1309-1311)CCA>GCA p.P437A ZNF828_uc001vuv.2_Missense_Mutation_p.P437A|ZNF828_uc010tko.1_Missense_Mutation_p.P437A NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 437 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) AGCAGGATCTCCAGAGCTCAG 0.532 183 144 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20852761 20852761 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:20852761G>T uc001vxe.2 - 22 3259 c.3219C>A c.(3217-3219)CGC>CGA p.R1073R TEP1_uc010ahk.2_Silent_p.R423R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.R965R|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1073 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTCACCTGCGGCAGGTGA 0.552 83 317 --- --- --- --- PASS RNASE4 6038 broad.mit.edu 37 14 21167599 21167599 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:21167599C>G uc001vxy.3 + 2 632 c.69C>G c.(67-69)GTC>GTG p.V23V RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.V23V NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 23 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) TGGGGCTGGTCCAGCCCTCCT 0.557 35 201 --- --- --- --- PASS SALL2 6297 broad.mit.edu 37 14 21993371 21993371 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:21993371G>C uc001wbe.2 - 2 773 c.491C>G c.(490-492)CCA>CGA p.P164R SALL2_uc010tly.1_Missense_Mutation_p.P162R|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 164 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGGGGGTGGTGGAGGAGGAGG 0.647 6 89 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23894185 23894185 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:23894185G>C uc001wjx.2 - 22 2578 c.2472C>G c.(2470-2472)GTC>GTG p.V824V NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 824 V -> I (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCCAATTCTTGACCCCCATGA 0.547 7 204 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24522926 24522926 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:24522926C>A uc001wlj.2 + 2 206 c.49C>A c.(49-51)CGG>AGG p.R17R NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 17 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) AGACAGCATCCGGAGGTGCCT 0.612 4 79 --- --- --- --- PASS FITM1 161247 broad.mit.edu 37 14 24601642 24601642 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:24601642C>G uc001wmf.2 + 2 587 c.489C>G c.(487-489)CAC>CAG p.H163Q NM_203402 NP_981947 A5D6W6 FITM1_HUMAN fat-inducing transcript 1 163 Extracellular (Potential). lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane 0 TGCTGCTCCACGAGCTGCCTG 0.687 8 69 --- --- --- --- PASS MDP1 145553 broad.mit.edu 37 14 24684816 24684816 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:24684816C>A uc001wnl.1 - 3 231 c.151G>T c.(151-153)GTG>TTG p.V51L TM9SF1_uc010tob.1_5'Flank|CHMP4A_uc001wni.2_5'Flank|CHMP4A_uc010toc.1_5'Flank|CHMP4A_uc001wnj.2_5'UTR|MDP1_uc001wnk.1_Missense_Mutation_p.V51L|CHMP4A_uc001wnm.1_Missense_Mutation_p.V51L NM_138476 NP_612485 Q86V88 MGDP1_HUMAN magnesium-dependent phosphatase 1 51 metal ion binding|protein tyrosine phosphatase activity 0 ACCTCAGGCACCTCTGGGTAC 0.587 OREG0022620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 711 --- --- --- --- PASS G2E3 55632 broad.mit.edu 37 14 31071217 31071217 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:31071217A>T uc001wqk.2 + 10 1044 c.890A>T c.(889-891)AAA>ATA p.K297I G2E3_uc010tpe.1_Missense_Mutation_p.K212I|G2E3_uc010tpf.1_Missense_Mutation_p.K251I NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 297 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GAGTTCCAAAAAGCCAAAAAA 0.308 16 115 --- --- --- --- PASS EAPP 55837 broad.mit.edu 37 14 35002695 35002695 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:35002695C>T uc001wsd.1 - 3 416 c.307G>A c.(307-309)GAT>AAT p.D103N NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 103 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TATATATCATCGTAGTACCTT 0.343 80 139 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356460 42356460 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:42356460C>G uc001wvm.2 + 3 1830 c.632C>G c.(631-633)CCA>CGA p.P211R LRFN5_uc010ana.2_Missense_Mutation_p.P211R NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 211 Extracellular (Potential).|LRR 7. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAGAAGCTACCACCTGACCCT 0.433 HNSCC(30;0.082) 22 152 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975323 44975323 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:44975323G>A uc001wvn.2 - 1 1177 c.868C>T c.(868-870)CAT>TAT p.H290Y NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 290 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ACTTGGACATGGGTCTCTTCA 0.493 7 141 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50585451 50585451 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:50585451G>A uc001wxs.3 - 23 3708 c.3610C>T c.(3610-3612)CCT>TCT p.P1204S SOS2_uc010ans.2_Missense_Mutation_p.P39S|SOS2_uc010tql.1_Missense_Mutation_p.P1171S|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1204 Poly-Pro. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GGTGGCGGAGGTGGACTATGC 0.522 11 346 --- --- --- --- PASS FRMD6 122786 broad.mit.edu 37 14 52164869 52164869 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:52164869C>T uc001wzd.2 + 3 394 c.109C>T c.(109-111)CTG>TTG p.L37L FRMD6_uc001wzb.2_Silent_p.L37L|FRMD6_uc001wzc.2_Silent_p.L37L|FRMD6_uc001wze.2_5'UTR NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 37 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGTTAAGATTCTGTGTCACCA 0.443 29 109 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52741475 52741475 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:52741475G>T uc001wzq.2 + 2 975 c.873G>T c.(871-873)AAG>AAT p.K291N NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 291 Extracellular (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GAGCATTTAAGGATGTCAAGG 0.398 4 110 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55475407 55475407 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:55475407C>G uc001xbm.1 - 5 450 c.372G>C c.(370-372)ATG>ATC p.M124I WDHD1_uc001xbn.1_Missense_Mutation_p.M1I NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 124 WD 3. cytoplasm|nucleoplasm DNA binding skin(1) 1 GGCTGCTATCCATCACATCCA 0.363 60 124 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56079043 56079043 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:56079043G>C uc001xcb.2 + 3 579 c.277G>C c.(277-279)GAA>CAA p.E93Q KTN1_uc001xce.2_Missense_Mutation_p.E93Q|KTN1_uc001xcc.2_Missense_Mutation_p.E93Q|KTN1_uc001xcd.2_Missense_Mutation_p.E93Q|KTN1_uc010trb.1_Missense_Mutation_p.E93Q|KTN1_uc001xcf.1_Missense_Mutation_p.E93Q NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 93 Lumenal (Potential). microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TTTGGCAGTAGAAGATGATCA 0.353 T RET papillary thryoid 8 212 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58604887 58604887 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:58604887G>A uc001xdc.2 - 2 1301 c.1190C>T c.(1189-1191)TCC>TTC p.S397F C14orf37_uc010tro.1_Missense_Mutation_p.S435F|C14orf37_uc001xdd.2_Missense_Mutation_p.S397F|C14orf37_uc001xde.2_Missense_Mutation_p.S397F NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 397 Extracellular (Potential). integral to membrane binding 0 GGGGGTAAAGGAACTTTGATC 0.512 99 176 --- --- --- --- PASS KIAA0586 9786 broad.mit.edu 37 14 58895097 58895097 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:58895097G>A uc001xdv.3 + 1 388 c.115G>A c.(115-117)GAG>AAG p.E39K KIAA0586_uc010trr.1_Missense_Mutation_p.E39K|KIAA0586_uc001xdt.3_Intron|KIAA0586_uc001xdu.3_Missense_Mutation_p.E24K|KIAA0586_uc010trs.1_Intron|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 39 ovary(1) 1 GCTGAAAGATGAGTTGCCCTG 0.428 8 122 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60193809 60193809 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:60193809C>A uc001xen.1 - 3 1802 c.1593G>T c.(1591-1593)CAG>CAT p.Q531H RTN1_uc001xem.1_Missense_Mutation_p.Q111H NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 531 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CGGGGCCAGGCTGGGGCTCAG 0.687 8 16 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64519092 64519092 + Nonsense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:64519092A>T uc001xgm.2 + 48 8691 c.8461A>T c.(8461-8463)AAA>TAA p.K2821* SYNE2_uc001xgl.2_Nonsense_Mutation_p.K2821* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2821 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) GCTGGTTTTAAAATCAACTCA 0.338 11 109 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64595260 64595260 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:64595260G>A uc001xgm.2 + 74 14238 c.14008G>A c.(14008-14010)GAA>AAA p.E4670K SYNE2_uc001xgl.2_Missense_Mutation_p.E4670K|SYNE2_uc010apy.2_Missense_Mutation_p.E1055K|SYNE2_uc010apz.1_Missense_Mutation_p.E562K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4670 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) GAGTGTTGCTGAACAGCTTCA 0.358 44 205 --- --- --- --- PASS MTHFD1 4522 broad.mit.edu 37 14 64908778 64908778 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:64908778C>G uc001xhb.2 + 20 2278 c.1891C>G c.(1891-1893)CCA>GCA p.P631A MTHFD1_uc010aqf.2_Missense_Mutation_p.P687A NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 631 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACAGGGCACTCCAGTGTTTGT 0.522 14 59 --- --- --- --- PASS RDH12 145226 broad.mit.edu 37 14 68189388 68189388 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:68189388C>T uc001xjz.3 + 3 353 c.29C>T c.(28-30)TCC>TTC p.S10F NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 10 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CTGCTCACCTCCTTCTTCTCG 0.502 10 298 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68234552 68234552 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:68234552C>G uc001xka.2 - 31 5798 c.5659G>C c.(5659-5661)GAC>CAC p.D1887H ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.D1887H NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1887 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) TTGGAGCTGTCTAGAGCTGAG 0.478 10 165 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71500230 71500230 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:71500230C>T uc001xmo.2 + 17 4089 c.3643C>T c.(3643-3645)CAA>TAA p.Q1215* PCNX_uc010are.1_Nonsense_Mutation_p.Q1104*|PCNX_uc010arf.1_Nonsense_Mutation_p.Q75* NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1215 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCTCAGCCGACAAAGCAGTGA 0.348 46 124 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74823770 74823770 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:74823770G>T uc001xpw.3 + 2 475 c.284G>T c.(283-285)TGG>TTG p.W95L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 95 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) ATGCTGCTGTGGGGTGACGCA 0.637 8 65 --- --- --- --- PASS FOS 2353 broad.mit.edu 37 14 75747808 75747808 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:75747808C>A uc001xrn.2 + 4 1029 c.824C>A c.(823-825)CCA>CAA p.P275Q FOS_uc010tva.1_Missense_Mutation_p.P239Q|FOS_uc010asi.2_Missense_Mutation_p.P161Q|FOS_uc001xro.2_Missense_Mutation_p.P127Q NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 275 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) TTCCTGTTCCCAGCATCATCC 0.582 37 93 --- --- --- --- PASS C14orf174 161394 broad.mit.edu 37 14 77844289 77844289 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:77844289C>G uc001xtq.1 + 1 528 c.528C>G c.(526-528)GTC>GTG p.V176V TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 176 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GGGCCACAGTCAGAGAGAGAA 0.488 4 219 --- --- --- --- PASS NDUFB1 4707 broad.mit.edu 37 14 92588099 92588099 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:92588099G>A uc001yaf.2 - 1 55 c.23C>T c.(22-24)TCT>TTT p.S8F NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank NM_004545 NP_004536 O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) NADH(DB00157) GCACGGAGCAGAGGGGTGACG 0.532 19 120 --- --- --- --- PASS SERPINA13 388007 broad.mit.edu 37 14 95107883 95107883 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:95107883C>A uc001ydt.2 + 2 488 c.400C>A c.(400-402)CCA>ACA p.P134T NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 TCTCTTCTCCCCAGTGAGCAT 0.592 6 17 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95578573 95578573 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:95578573C>G uc001ydw.2 - 14 2234 c.2052G>C c.(2050-2052)ATG>ATC p.M684I DICER1_uc001ydv.2_Missense_Mutation_p.M674I|DICER1_uc001ydx.2_Missense_Mutation_p.M684I NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 684 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GTACACAGCTCATTGGTGGAC 0.388 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 152 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95582871 95582871 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:95582871G>C uc001ydw.2 - 11 1853 c.1671C>G c.(1669-1671)ATC>ATG p.I557M DICER1_uc001ydv.2_Missense_Mutation_p.I547M|DICER1_uc001ydx.2_Missense_Mutation_p.I557M NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 557 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TATAATTAGAGATGGGTGCCC 0.348 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 58 348 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95912339 95912339 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:95912339C>G uc001yei.3 - 8 1554 c.1539G>C c.(1537-1539)GAG>GAC p.E513D C14orf49_uc010avi.2_Missense_Mutation_p.E513D|C14orf49_uc001yej.1_Missense_Mutation_p.E513D NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 513 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CCGTGGCTCTCTCCTGGCCAA 0.577 135 172 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95932538 95932538 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:95932538C>G uc001yei.3 - 3 372 c.357G>C c.(355-357)CTG>CTC p.L119L C14orf49_uc010avi.2_Silent_p.L119L|C14orf49_uc001yej.1_Silent_p.L119L NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 119 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTCGGGCCAGCAGGTACTCGC 0.627 26 49 --- --- --- --- PASS DEGS2 123099 broad.mit.edu 37 14 100615443 100615443 + Silent SNP G A A rs145891510 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:100615443G>A uc001ygx.2 - 2 775 c.687C>T c.(685-687)TTC>TTT p.F229F NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN degenerative spermatocyte homolog 2, lipid 229 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity 0 Melanoma(154;0.212) GCTCGGCCACGAAGTGGCCCG 0.622 86 116 --- --- --- --- PASS DLK1 8788 broad.mit.edu 37 14 101201015 101201015 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:101201015G>A uc001yhs.3 + 5 1087 c.934G>A c.(934-936)GTG>ATG p.V312M DLK1_uc001yhu.3_Missense_Mutation_p.V239M NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 312 Helical; (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) CATCCTGGGCGTGCTCACCAG 0.597 32 173 --- --- --- --- PASS PPP2R5C 5527 broad.mit.edu 37 14 102391487 102391487 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:102391487G>C uc001yko.2 + 14 1593 c.1453G>C c.(1453-1455)GAT>CAT p.D485H PPP2R5C_uc010txr.1_Missense_Mutation_p.D516H|PPP2R5C_uc001ykk.2_Missense_Mutation_p.D501H|PPP2R5C_uc001ykp.2_Missense_Mutation_p.D446H NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 485 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 GGCACAGAAAGATCCGAAGAA 0.522 74 433 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102498736 102498736 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:102498736G>T uc001yks.2 + 52 10175 c.10011G>T c.(10009-10011)CAG>CAT p.Q3337H NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3337 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ACTGGAAGCAGATCCGCTCCA 0.572 8 224 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103470347 103470347 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:103470347C>T uc001ymi.1 - 4 597 c.365G>A c.(364-366)CGA>CAA p.R122Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 122 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCGCTCCTCTCGGAAGCACGC 0.627 6 43 --- --- --- --- PASS CRIP2 1397 broad.mit.edu 37 14 105945519 105945519 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr14:105945519G>T uc001yrd.1 + 6 533 c.464G>T c.(463-465)CGC>CTC p.R155L CRIP2_uc010tyr.1_Missense_Mutation_p.R229L|CRIP2_uc001yre.1_Missense_Mutation_p.R155L|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA NM_001312 NP_001303 P52943 CRIP2_HUMAN cysteine-rich protein 2 155 LIM zinc-binding 2. zinc ion binding 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) CGCTGCGAGCGCTGCGGGAAG 0.687 5 19 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382511 22382511 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:22382511C>A uc001yuc.1 + 7 1020 c.39C>A c.(37-39)ATC>ATA p.I13I LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.I13I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAGAATTTATCCTCCTTGGTC 0.343 82 384 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27182355 27182355 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:27182355G>A uc001zbd.1 + 9 943 c.604G>A c.(604-606)GTT>ATT p.V202I GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 202 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCTGAAGTCGTTTACGTCTG 0.512 39 112 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27572057 27572057 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:27572057G>T uc001zbg.1 + 4 538 c.372G>T c.(370-372)GGG>GGT p.G124G GABRG3_uc001zbf.2_Silent_p.G124G NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 124 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ACATGGTGGGGTTAATCTGGA 0.458 13 204 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:28202874C>T uc001zbh.3 - 16 1754 c.1644G>A c.(1642-1644)AAG>AAA p.K548K OCA2_uc010ayv.2_Silent_p.K524K NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 548 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612 Oculocutaneous_Albinism 7 62 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28491051 28491051 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:28491051C>T uc001zbj.2 - 23 3659 c.3553G>A c.(3553-3555)GAG>AAG p.E1185K NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1185 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGGCTAACTCTTCATGATCA 0.478 22 108 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29367139 29367139 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:29367139G>T uc001zck.2 + 4 1174 c.967G>T c.(967-969)GAG>TAG p.E323* APBA2_uc010azj.2_Nonsense_Mutation_p.E323*|APBA2_uc010uat.1_Nonsense_Mutation_p.E323*|APBA2_uc001zcl.2_Nonsense_Mutation_p.E323*|APBA2_uc001zcm.1_Nonsense_Mutation_p.E27* NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 323 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CAATGGTCTGGAGCAGCCAAG 0.413 8 56 --- --- --- --- PASS SCG5 6447 broad.mit.edu 37 15 32935813 32935813 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:32935813C>G uc001zha.2 + 2 137 c.20C>G c.(19-21)TCT>TGT p.S7C SCG5_uc001zgz.2_Missense_Mutation_p.S7C NM_001144757 NP_001138229 P05408 7B2_HUMAN secretogranin V isoform 1 7 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding 0 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) AGGATGGTCTCTACCATGCTA 0.463 70 201 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33895559 33895559 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:33895559T>G uc001zhi.2 + 18 2228 c.2158T>G c.(2158-2160)TGG>GGG p.W720G RYR3_uc010bar.2_Missense_Mutation_p.W720G NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 720 Cytoplasmic (By similarity).|B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACTTCACCTTTGGTCAGGTGA 0.468 101 327 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34647258 34647258 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:34647258C>G uc001zif.2 + 6 1470 c.1315C>G c.(1315-1317)CTG>GTG p.L439V C15orf55_uc010ucc.1_Missense_Mutation_p.L467V|C15orf55_uc010ucd.1_Missense_Mutation_p.L457V NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 439 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TCTGGCAGATCTGCTGTCCCC 0.473 T BRD3|BRD4 lethal midline carcinoma 32 175 --- --- --- --- PASS CHP 11261 broad.mit.edu 37 15 41555038 41555038 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:41555038G>A uc001znl.2 + 4 450 c.306G>A c.(304-306)GTG>GTA p.V102V NM_007236 NP_009167 Q99653 CHP1_HUMAN calcium binding protein P22 102 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143) GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169) GCAAAGATGTGAATGGACCCG 0.413 35 107 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41812753 41812753 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:41812753A>T uc001zod.2 - 22 3755 c.3631T>A c.(3631-3633)TAT>AAT p.Y1211N RPAP1_uc001zoc.2_Missense_Mutation_p.Y230N NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1211 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) AAGTTGGCATAGAGGTCAGGG 0.592 9 51 --- --- --- --- PASS JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42139651 42139651 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:42139651C>T uc010bco.2 + 19 2165 c.2064C>T c.(2062-2064)ACC>ACT p.T688T JMJD7-PLA2G4B_uc001zoo.3_Silent_p.T919T|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.T389T NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 688 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 CCGACCCCACCTGCCCCGGAG 0.677 11 180 --- --- --- --- PASS SPTBN5 51332 broad.mit.edu 37 15 42178428 42178428 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:42178428C>T uc001zos.2 - 7 1253 c.920G>A c.(919-921)CGG>CAG p.R307Q NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 342 Spectrin 1. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CAGTAGCTGCCGCATGGCGGG 0.632 6 17 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42727711 42727711 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:42727711C>T uc001zpw.2 - 11 5018 c.4683G>A c.(4681-4683)CGG>CGA p.R1561R ZFP106_uc001zpu.2_Silent_p.R659R|ZFP106_uc001zpv.2_Silent_p.R746R|ZFP106_uc001zpx.2_Silent_p.R789R NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1561 WD 1. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) CAATACATTTCCGACTCTAAA 0.398 12 196 --- --- --- --- PASS CDAN1 146059 broad.mit.edu 37 15 43026155 43026155 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:43026155G>A uc001zql.2 - 8 1465 c.1348C>T c.(1348-1350)CAT>TAT p.H450Y CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 450 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTAAAAGTATGAAAGGCTCGG 0.433 13 51 --- --- --- --- PASS ZSCAN29 146050 broad.mit.edu 37 15 43662016 43662016 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:43662016C>T uc001zrk.1 - 1 243 c.96G>A c.(94-96)CCG>CCA p.P32P ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.P31P|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.P31P|ZSCAN29_uc001zrm.2_Silent_p.P31P|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 32 SCAN box. 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) AAGCCTCCCGCGGCCCAGCCA 0.532 5 122 --- --- --- --- PASS WDR76 79968 broad.mit.edu 37 15 44149268 44149268 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:44149268C>T uc001zti.1 + 10 1339 c.1316C>T c.(1315-1317)TCT>TTT p.S439F NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 439 WD 3. 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CCTGGAACTTCTTATGAGAAA 0.428 10 132 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45444182 45444182 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:45444182G>T uc001zus.1 + 25 3471 c.3125G>T c.(3124-3126)CGG>CTG p.R1042L DUOX1_uc001zut.1_Missense_Mutation_p.R1042L|DUOX1_uc010bee.1_Missense_Mutation_p.R422L|DUOX1_uc001zuu.2_Missense_Mutation_p.R184L NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1042 Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GAGAACTACCGGCGCCACATC 0.587 3 64 --- --- --- --- PASS SLC30A4 7782 broad.mit.edu 37 15 45779760 45779760 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:45779760C>T uc001zvj.2 - 6 1277 c.965G>A c.(964-966)CGA>CAA p.R322Q NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 322 Helical; (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) CCATATGATTCGAAATGTTGT 0.348 55 123 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48541786 48541786 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:48541786A>G uc001zwn.3 + 14 1915 c.1699A>G c.(1699-1701)ATT>GTT p.I567V SLC12A1_uc010uew.1_Missense_Mutation_p.I373V|SLC12A1_uc010bem.2_Missense_Mutation_p.I567V|SLC12A1_uc001zwq.3_Missense_Mutation_p.I338V|SLC12A1_uc001zwr.3_Missense_Mutation_p.I294V NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 567 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ACTGAACACCATTGCTCCCAT 0.433 29 104 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48591428 48591428 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:48591428C>A uc001zwn.3 + 25 3268 c.3052C>A c.(3052-3054)CCG>ACG p.P1018T SLC12A1_uc001zwq.3_Missense_Mutation_p.P789T|SLC12A1_uc001zwr.3_Missense_Mutation_p.P745T NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 1018 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AAGAGAAACTCCGTGGAAAAT 0.353 12 29 --- --- --- --- PASS TRPM7 54822 broad.mit.edu 37 15 50904981 50904981 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:50904981C>T uc001zyt.3 - 16 2080 c.1816G>A c.(1816-1818)GAA>AAA p.E606K TRPM7_uc010bew.1_Missense_Mutation_p.E606K|TRPM7_uc001zyu.2_Missense_Mutation_p.E164K NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 606 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTACAATTTCATCTTTGGTT 0.358 25 183 --- --- --- --- PASS CCPG1 9236 broad.mit.edu 37 15 55651990 55651990 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:55651990G>A uc002acv.1 - 8 2146 c.1981C>T c.(1981-1983)CAA>TAA p.Q661* CCPG1_uc002acy.2_Nonsense_Mutation_p.Q661*|CCPG1_uc002acu.1_Nonsense_Mutation_p.Q517*|CCPG1_uc002acw.1_Nonsense_Mutation_p.Q386*|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Nonsense_Mutation_p.Q661*|CCPG1_uc002acz.1_Nonsense_Mutation_p.Q661* NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 661 Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) ATGTACCTTTGAATTATCTGT 0.358 14 80 --- --- --- --- PASS CCPG1 9236 broad.mit.edu 37 15 55669255 55669255 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:55669255C>T uc002acv.1 - 5 511 c.346G>A c.(346-348)GAA>AAA p.E116K CCPG1_uc002acy.2_Missense_Mutation_p.E116K|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Missense_Mutation_p.E116K|CCPG1_uc010bfk.1_Missense_Mutation_p.E116K|CCPG1_uc002acz.1_Missense_Mutation_p.E116K NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 116 Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) TTTCCAATTTCTTCTAACTTA 0.413 30 210 --- --- --- --- PASS ALDH1A2 8854 broad.mit.edu 37 15 58247467 58247467 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:58247467C>A uc002aex.2 - 13 1543 c.1485G>T c.(1483-1485)ATG>ATT p.M495I ALDH1A2_uc002aey.2_Missense_Mutation_p.M457I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.M474I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.M466I|ALDH1A2_uc002aew.2_Missense_Mutation_p.M399I NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 495 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAAATTCTCCCCTGAAACACA 0.537 43 152 --- --- --- --- PASS ADAM10 102 broad.mit.edu 37 15 58925402 58925402 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:58925402C>A uc002afd.1 - 9 1613 c.1169G>T c.(1168-1170)GGA>GTA p.G390V ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.G89V|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 390 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TACTGGGGATCCAAAGTTATG 0.318 11 62 --- --- --- --- PASS MYO1E 4643 broad.mit.edu 37 15 59519720 59519720 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:59519720G>C uc002aga.2 - 7 952 c.580C>G c.(580-582)CTG>GTG p.L194V NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 194 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) GATTTTTCCAGAAGGAAGTTG 0.443 52 120 --- --- --- --- PASS GCNT3 9245 broad.mit.edu 37 15 59911741 59911741 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:59911741G>A uc002age.2 + 3 1753 c.1304G>A c.(1303-1305)GGG>GAG p.G435E GCNT3_uc002agd.2_Missense_Mutation_p.G435E NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 435 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 GCCATCTATGGGACTGAACTT 0.468 32 261 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 62993335 62993335 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:62993335G>A uc002alb.3 + 14 1618 c.1618G>A c.(1618-1620)GAC>AAC p.D540N NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 540 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GAACAAAGTCGACGAATCCAA 0.512 10 108 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65489732 65489732 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:65489732C>T uc002aon.2 - 9 3073 c.2892G>A c.(2890-2892)CTG>CTA p.L964L NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 964 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CATTCACTTCCAGTGGCCCCA 0.552 22 103 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71188191 71188191 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:71188191G>C uc002asw.2 + 3 356 c.109G>C c.(109-111)GAA>CAA p.E37Q LRRC49_uc002asu.2_Missense_Mutation_p.E27Q|LRRC49_uc002asx.2_5'UTR|LRRC49_uc010ukf.1_Missense_Mutation_p.E42Q|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_5'UTR NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 37 cytoplasm|microtubule ovary(1) 1 TTTTCAGGTTGAATTCAAGCT 0.274 14 89 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73418810 73418810 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:73418810C>G uc002avm.3 + 4 919 c.777C>G c.(775-777)GTC>GTG p.V259V NEO1_uc010ukx.1_Silent_p.V259V|NEO1_uc010uky.1_Silent_p.V259V|NEO1_uc010ukz.1_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 259 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTCCCTTAGTCAGAGTCATTG 0.363 70 190 --- --- --- --- PASS STOML1 9399 broad.mit.edu 37 15 74281457 74281457 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:74281457G>T uc002awe.2 - 3 453 c.382C>A c.(382-384)CCC>ACC p.P128T STOML1_uc002awf.2_Missense_Mutation_p.P128T|STOML1_uc010bje.2_Missense_Mutation_p.P128T|STOML1_uc010uld.1_Missense_Mutation_p.P86T|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.P41T NM_004809 NP_004800 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 128 Cytoplasmic (Potential). integral to membrane sterol binding skin(1) 1 ACCTTGCAGGGAGGGACGTTG 0.597 6 87 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75655061 75655061 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:75655061C>G uc002baf.2 - 7 836 c.819G>C c.(817-819)GTG>GTC p.V273V MAN2C1_uc002bag.2_Silent_p.V273V|MAN2C1_uc002bah.2_Silent_p.V273V|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Silent_p.V55V|MAN2C1_uc010umj.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 273 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CACATTTCCTCACAGTCTCTT 0.622 10 60 --- --- --- --- PASS DNAJA4 55466 broad.mit.edu 37 15 78563008 78563008 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:78563008G>C uc002bdj.1 + 2 419 c.302G>C c.(301-303)AGA>ACA p.R101T DNAJA4_uc002bdi.2_Missense_Mutation_p.R130T|DNAJA4_uc002bdk.2_Missense_Mutation_p.R74T|DNAJA4_uc002bdl.2_Missense_Mutation_p.R16T NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 101 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 CGGATGGCTAGAGAGAGAAGA 0.428 38 112 --- --- --- --- PASS CHRNB4 1143 broad.mit.edu 37 15 78921717 78921717 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:78921717G>A uc002bed.1 - 5 1042 c.930C>T c.(928-930)ATC>ATT p.I310I CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.I128I NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 310 Helical; (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 CGCTGGTGACGATGGAGAAGG 0.597 14 76 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79749984 79749984 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:79749984A>C uc002bew.1 + 2 1570 c.1495A>C c.(1495-1497)AGT>CGT p.S499R KIAA1024_uc010unk.1_Missense_Mutation_p.S499R NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 499 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GGGCAAGTACAGTGACAGGCA 0.532 23 59 --- --- --- --- PASS FAH 2184 broad.mit.edu 37 15 80465390 80465390 + Silent SNP C T T rs145851627 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:80465390C>T uc002bfj.2 + 10 823 c.741C>T c.(739-741)CTC>CTT p.L247L FAH_uc002bfk.1_Silent_p.L247L|FAH_uc002bfm.1_Silent_p.L247L|FAH_uc002bfn.1_Silent_p.L177L NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 247 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 ATGTCCCTCTCGGGCCATTCC 0.572 Tyrosinemia_type_1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 192 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84651319 84651319 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:84651319A>T uc002bjz.3 + 21 3163 c.2939A>T c.(2938-2940)TAC>TTC p.Y980F ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Y980F|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Y980F NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 980 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ATCGGCGTGTACCGGTGCATT 0.572 18 105 --- --- --- --- PASS MRPL46 26589 broad.mit.edu 37 15 89010599 89010599 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr15:89010599G>C uc002bmj.2 - 1 35 c.10C>G c.(10-12)CCC>GCC p.P4A MRPL46_uc002bmi.1_5'Flank|MRPL46_uc002bmk.2_Missense_Mutation_p.P4A|MRPS11_uc002bmm.2_5'Flank|MRPS11_uc002bml.2_5'Flank|MRPS11_uc002bmn.2_5'Flank|MRPS11_uc010bnj.2_5'Flank NM_022163 NP_071446 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 precursor 4 mitochondrion|ribosome hydrolase activity central_nervous_system(1) 1 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CGCCTTACGGGCGCCGCCATC 0.672 3 4 --- --- --- --- PASS RHBDL1 9028 broad.mit.edu 37 16 726323 726323 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:726323C>T uc002cis.1 + 1 249 c.222C>T c.(220-222)GGC>GGT p.G74G RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 74 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) TGGCTGGCGGCTCCTCACTGC 0.672 6 6 --- --- --- --- PASS SSTR5 6755 broad.mit.edu 37 16 1129885 1129885 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:1129885G>C uc002ckq.2 + 1 1105 c.1017G>C c.(1015-1017)AGG>AGC p.R339S LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 339 Cytoplasmic (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) GTCCAGACAGGATCCGGCAGC 0.677 3 20 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1388632 1388632 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:1388632G>A uc002clk.1 + 2 187 c.187G>A c.(187-189)GAC>AAC p.D63N BAIAP3_uc002clj.2_Missense_Mutation_p.D28N|BAIAP3_uc010uuz.1_Missense_Mutation_p.D28N|BAIAP3_uc010uva.1_Missense_Mutation_p.D28N|BAIAP3_uc010uvb.1_Missense_Mutation_p.D63N|BAIAP3_uc010uvc.1_Missense_Mutation_p.D28N NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 63 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) GACTGAGCAGGACCCAGGGAG 0.697 3 12 --- --- --- --- PASS HS3ST6 64711 broad.mit.edu 37 16 1961753 1961753 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:1961753G>C uc002cnf.2 - 2 774 c.774C>G c.(772-774)CTC>CTG p.L258L NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 258 0 GGGCCTTCTTGAGGCAGGGGA 0.701 14 35 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3304210 3304210 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:3304210C>A uc002cun.1 - 2 898 c.858G>T c.(856-858)GGG>GGT p.G286G NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 286 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) CCGCAGATGCCCCTCCATCCG 0.418 42 222 --- --- --- --- PASS VASN 114990 broad.mit.edu 37 16 4431739 4431739 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:4431739C>A uc002cwj.1 + 2 1016 c.861C>A c.(859-861)TTC>TTA p.F287L CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 287 LRR 10.|Extracellular (Potential). extracellular region|integral to membrane 0 CGGGCCTCTTCCCCCGCCTGC 0.706 5 35 --- --- --- --- PASS ZNF500 26048 broad.mit.edu 37 16 4802659 4802659 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:4802659C>G uc002cxp.1 - 6 1408 c.1161G>C c.(1159-1161)GGG>GGC p.G387G ZNF500_uc002cxo.1_Silent_p.G179G|ZNF500_uc010uxt.1_Silent_p.G387G NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 387 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TGAAGCGCTTCCCACACTCGG 0.637 4 26 --- --- --- --- PASS TXNDC11 51061 broad.mit.edu 37 16 11785193 11785193 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:11785193G>C uc010buu.1 - 9 1996 c.1934C>G c.(1933-1935)TCT>TGT p.S645C TXNDC11_uc002dbg.1_Missense_Mutation_p.S618C NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 645 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 GATGTAATGAGATTCTTCTTT 0.423 4 234 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18840913 18840913 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:18840913G>A uc002dfm.2 - 54 9661 c.9298C>T c.(9298-9300)CAA>TAA p.Q3100* SMG1_uc010bwb.2_Nonsense_Mutation_p.Q2960*|SMG1_uc010bwa.2_Nonsense_Mutation_p.Q1831* NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3100 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 CCGAGGGCTTGGTTGGGTAGC 0.468 29 61 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20331610 20331610 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:20331610C>G uc002dgv.2 - 6 924 c.841G>C c.(841-843)GCT>CCT p.A281P GP2_uc002dgw.2_Missense_Mutation_p.A278P|GP2_uc002dgx.2_Missense_Mutation_p.A134P|GP2_uc002dgy.2_Missense_Mutation_p.A131P NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 281 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CAGGCACTAGCCTGGACGGGG 0.517 6 175 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20395985 20395985 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:20395985C>G uc002dhc.1 - 3 614 c.391G>C c.(391-393)GAG>CAG p.E131Q NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 131 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CTGATGGGCTCTGACCTGTTG 0.353 43 272 --- --- --- --- PASS VWA3A 146177 broad.mit.edu 37 16 22134981 22134981 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:22134981G>C uc010vbq.1 + 16 1581 c.1485G>C c.(1483-1485)TGG>TGC p.W495C VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.W503C NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 495 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GGATTGAGTGGCTCTCCCTGG 0.537 7 159 --- --- --- --- PASS CHP2 63928 broad.mit.edu 37 16 23766387 23766387 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:23766387C>A uc002dmb.1 + 1 440 c.17C>A c.(16-18)TCC>TAC p.S6Y NM_022097 NP_071380 O43745 CHP2_HUMAN hepatocellular carcinoma antigen gene 520 6 calcium ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(48;0.0144) TCGCGCAGCTCCCACGCCGCG 0.751 5 31 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24105581 24105581 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:24105581G>C uc002dmd.2 + 7 981 c.784G>C c.(784-786)GGG>CGG p.G262R PRKCB_uc002dme.2_Missense_Mutation_p.G262R NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 262 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.G262V(1) ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TTTGTCCTTTGGGATTTCTGA 0.448 25 266 --- --- --- --- PASS JMJD5 79831 broad.mit.edu 37 16 27221549 27221549 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:27221549G>T uc002doh.2 + 2 287 c.105G>T c.(103-105)TTG>TTT p.L35F JMJD5_uc010bxv.2_Missense_Mutation_p.L35F|JMJD5_uc010vcn.1_Missense_Mutation_p.L73F|JMJD5_uc010bxw.2_Missense_Mutation_p.L35F NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 35 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 ACCTGAAGTTGGACCTCGGGG 0.617 34 77 --- --- --- --- PASS MAZ 4150 broad.mit.edu 37 16 29819011 29819011 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:29819011C>T uc002dty.2 + 2 1073 c.905C>T c.(904-906)TCG>TTG p.S302L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S279L|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S302L|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.S20L|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 302 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 CTGTCGCACTCGGACGAGAAG 0.632 26 139 --- --- --- --- PASS ZNF768 79724 broad.mit.edu 37 16 30536455 30536455 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:30536455G>T uc002dyk.3 - 2 1182 c.1006C>A c.(1006-1008)CAG>AAG p.Q336K ZNF768_uc010vex.1_Missense_Mutation_p.Q305K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.Q305K NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 336 C2H2-type 3. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TGAGTGCGCTGGTGGCGAAGC 0.627 13 48 --- --- --- --- PASS ORAI3 93129 broad.mit.edu 37 16 30964632 30964632 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:30964632C>A uc002eac.2 + 2 561 c.355C>A c.(355-357)CTG>ATG p.L119M NM_152288 NP_689501 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 119 integral to membrane protein binding 0 CTCCACGTGTCTGCTGCCCCA 0.612 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 178 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31374072 31374072 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:31374072C>T uc002ebu.1 + 12 1424 c.1357C>T c.(1357-1359)CAG>TAG p.Q453* ITGAX_uc002ebt.2_Nonsense_Mutation_p.Q453*|ITGAX_uc010vfk.1_Nonsense_Mutation_p.Q103* NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 453 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CACGGGGACTCAGGTTGGGCG 0.662 6 54 --- --- --- --- PASS TGFB1I1 7041 broad.mit.edu 37 16 31487877 31487877 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:31487877G>C uc002ecd.1 + 9 990 c.964G>C c.(964-966)GAT>CAT p.D322H TGFB1I1_uc002ece.1_Missense_Mutation_p.D305H|TGFB1I1_uc010caq.1_Missense_Mutation_p.D161H NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 322 LIM zinc-binding 2. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 GCCCTTCGGAGATGAGGGTGA 0.632 5 18 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46697018 46697018 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:46697018G>A uc002eef.3 - 14 1803 c.1704C>T c.(1702-1704)ATC>ATT p.I568I VPS35_uc002eed.2_Silent_p.I389I|VPS35_uc002eee.2_Silent_p.I529I NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 568 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCAAAGCACTGATAGTCTGGT 0.363 57 57 --- --- --- --- PASS SIAH1 6477 broad.mit.edu 37 16 48395889 48395889 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:48395889G>C uc002efo.1 - 2 568 c.451C>G c.(451-453)CAG>GAG p.Q151E uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.Q182E NM_003031 NP_003022 Q8IUQ4 SIAH1_HUMAN seven in absentia homolog 1 isoform a 151 SIAH-type.|SBD. Q->A: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-142. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) GACTTATGCTGATGCATCAGA 0.478 6 109 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49557553 49557553 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:49557553G>T uc002efs.2 - 8 4105 c.3807C>A c.(3805-3807)TTC>TTA p.F1269L ZNF423_uc010vgn.1_Missense_Mutation_p.F1152L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1269 C2H2-type 30. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CGGTCTGGAAGAAGAACTTCT 0.602 5 63 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50342626 50342626 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:50342626G>A uc002egd.1 + 16 2252 c.1984G>A c.(1984-1986)GAG>AAG p.E662K ADCY7_uc002egc.1_Missense_Mutation_p.E662K NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 662 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGAGAGGGTGGAGACACAGCC 0.647 4 99 --- --- --- --- PASS GPR56 9289 broad.mit.edu 37 16 57685308 57685308 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:57685308C>G uc002emb.2 + 4 553 c.261C>G c.(259-261)CTC>CTG p.L87L GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.L87L|GPR56_uc002emf.2_Silent_p.L87L|GPR56_uc010vhs.1_Silent_p.L87L|GPR56_uc002emd.2_Silent_p.L87L|GPR56_uc002eme.2_Silent_p.L87L|GPR56_uc010vht.1_Silent_p.L92L|GPR56_uc002emg.3_Silent_p.L87L|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 87 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 CCAGGGGCCTCTACCACTTCT 0.572 5 181 --- --- --- --- PASS CNGB1 1258 broad.mit.edu 37 16 57998082 57998082 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:57998082G>T uc002emt.2 - 4 307 c.242C>A c.(241-243)TCC>TAC p.S81Y CNGB1_uc010cdh.2_Missense_Mutation_p.S81Y|CNGB1_uc002emu.2_Missense_Mutation_p.S81Y NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 81 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GGATATGGTGGAAGTAAGGGC 0.562 11 74 --- --- --- --- PASS CCDC113 29070 broad.mit.edu 37 16 58287906 58287906 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:58287906G>A uc002ene.2 + 3 312 c.233G>A c.(232-234)CGA>CAA p.R78Q CCDC113_uc010vid.1_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 78 protein complex 0 TTGCAGTTTCGAGGCAGGCGT 0.498 10 125 --- --- --- --- PASS LRRC29 26231 broad.mit.edu 37 16 67241837 67241837 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:67241837C>T uc002esd.2 - 3 1339 c.442G>A c.(442-444)GCC>ACC p.A148T LRRC29_uc002ese.2_Missense_Mutation_p.A148T|LRRC29_uc002esf.2_Missense_Mutation_p.A148T|LRRC29_uc002esg.2_Missense_Mutation_p.A148T NM_012163 NP_036295 Q8WV35 LRC29_HUMAN F-box and leucine-rich repeat protein 9 148 F-box.|LRR 5. 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CAGGAGCTGGCTGCCTGGGCC 0.617 16 75 --- --- --- --- PASS FAM65A 79567 broad.mit.edu 37 16 67578699 67578699 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:67578699G>T uc010vjp.1 + 16 2991 c.2895G>T c.(2893-2895)AGG>AGT p.R965S FAM65A_uc002eth.2_Missense_Mutation_p.R945S|FAM65A_uc010cej.2_Missense_Mutation_p.R948S|FAM65A_uc010vjq.1_Missense_Mutation_p.R959S|FAM65A_uc002etk.2_Missense_Mutation_p.R943S NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 949 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGTTCAGCAGGCGGTGGGAGA 0.652 12 150 --- --- --- --- PASS CTCF 10664 broad.mit.edu 37 16 67671757 67671757 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:67671757C>G uc002etl.2 + 12 2456 c.2166C>G c.(2164-2166)CTC>CTG p.L722L CTCF_uc010cek.2_Silent_p.L394L|CTCF_uc002etm.1_Silent_p.L209L NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 722 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGATGATCCTCAGCATGATGG 0.572 8 57 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68373336 68373336 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:68373336G>A uc002evy.1 + 8 892 c.616G>A c.(616-618)GGA>AGA p.G206R PRMT7_uc002evx.1_Missense_Mutation_p.G206R|PRMT7_uc010vlg.1_Missense_Mutation_p.G156R|PRMT7_uc002evz.1_Missense_Mutation_p.G52R NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 206 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) GACCAGCCTCGGAGAGCAGGT 0.612 73 82 --- --- --- --- PASS CHTF8 54921 broad.mit.edu 37 16 69154385 69154385 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:69154385C>G uc002ewn.1 - 4 410 c.309G>C c.(307-309)AAG>AAC p.K103N CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Missense_Mutation_p.K84N|CHTF8_uc002ewp.1_Missense_Mutation_p.K103N NM_001040146 NP_001035236 P0CG13 CTF8_HUMAN chromosome transmission fidelity factor 8 103 cell cycle|DNA replication nucleus DNA binding 0 TGAAAAGGATCTTGTCTTTGA 0.532 5 110 --- --- --- --- PASS NFAT5 10725 broad.mit.edu 37 16 69704161 69704161 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:69704161A>T uc002exm.1 + 8 2681 c.1473A>T c.(1471-1473)GAA>GAT p.E491D NFAT5_uc002exh.1_Missense_Mutation_p.E285D|NFAT5_uc002exi.2_Missense_Mutation_p.E415D|NFAT5_uc002exj.1_Missense_Mutation_p.E415D|NFAT5_uc002exk.1_Missense_Mutation_p.E415D|NFAT5_uc002exl.1_Missense_Mutation_p.E509D|NFAT5_uc002exn.1_Missense_Mutation_p.E509D NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 491 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAAGTCAGAAGCTGAAATTG 0.249 4 74 --- --- --- --- PASS VAC14 55697 broad.mit.edu 37 16 70818111 70818111 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:70818111C>G uc002ezm.2 - 5 757 c.499G>C c.(499-501)GAG>CAG p.E167Q VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_Intron NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 167 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) TTGTTGCTCTCAGTCACAATG 0.557 30 31 --- --- --- --- PASS FTSJD1 55783 broad.mit.edu 37 16 71317774 71317774 + Missense_Mutation SNP C T T rs148258352 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71317774C>T uc010cga.2 - 3 2456 c.2050G>A c.(2050-2052)GCA>ACA p.A684T FTSJD1_uc002ezy.3_Missense_Mutation_p.A684T|FTSJD1_uc002ezz.3_Missense_Mutation_p.A684T NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 684 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 AGCAGGACTGCGCAGGTCCTC 0.433 8 184 --- --- --- --- PASS ZNF19 7567 broad.mit.edu 37 16 71509875 71509875 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71509875C>G uc010cgc.1 - 6 1081 c.575G>C c.(574-576)AGT>ACT p.S192T ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.S180T|ZNF19_uc002fal.1_Missense_Mutation_p.S180T|ZNF19_uc002fam.1_Missense_Mutation_p.S192T NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 192 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TCCACACTCACTACACTCAAA 0.458 4 139 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71663343 71663343 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71663343G>C uc002fat.2 + 2 604 c.541G>C c.(541-543)GAG>CAG p.E181Q MARVELD3_uc002fas.1_Missense_Mutation_p.E181Q|MARVELD3_uc002fau.2_Missense_Mutation_p.E181Q|MARVELD3_uc010cge.2_Missense_Mutation_p.Q126H NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 181 Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) TTACCAGTCAGAGGCGGAAGG 0.507 6 141 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71668506 71668506 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71668506G>T uc002fat.2 + 3 1069 c.1006G>T c.(1006-1008)GTG>TTG p.V336L MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 336 MARVEL.|Extracellular (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) TGGCTCTCCTGTGTGTAAAGA 0.557 5 67 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71674663 71674663 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71674663C>G uc002fau.2 + 3 1029 c.966C>G c.(964-966)CTC>CTG p.L322L PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) GTGTTTACCTCCACGTGGCTC 0.577 41 55 --- --- --- --- PASS PHLPP2 23035 broad.mit.edu 37 16 71748541 71748541 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:71748541G>A uc002fax.2 - 1 164 c.158C>T c.(157-159)TCT>TTT p.S53F PHLPP2_uc010cgf.2_Missense_Mutation_p.S53F|PHLPP2_uc002fay.1_Missense_Mutation_p.S53F NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 53 Poly-Ser. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 ggaggaggaagaggaagagga 0.373 5 66 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72158677 72158677 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:72158677C>A uc002fcc.3 - 17 2765 c.2593G>T c.(2593-2595)GAC>TAC p.D865Y PMFBP1_uc002fcd.2_Missense_Mutation_p.D860Y|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D715Y|PMFBP1_uc010cgo.1_Missense_Mutation_p.D156Y NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 865 Potential. ovary(2) 2 Ovarian(137;0.179) TCCTTATCGTCCTCAAGGAGG 0.572 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 109 132 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563946 75563946 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:75563946C>T uc002fei.2 - 3 1732 c.337G>A c.(337-339)GCC>ACC p.A113T CHST5_uc002fej.1_Missense_Mutation_p.A119T NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 113 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TCGCGCACGGCCATGTGCAGC 0.607 57 51 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76528891 76528891 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:76528891G>A uc002feu.1 + 16 2550 c.2165G>A c.(2164-2166)TGT>TAT p.C722Y CNTNAP4_uc002fev.1_Missense_Mutation_p.C586Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.C649Y|CNTNAP4_uc002fex.1_Missense_Mutation_p.C725Y|CNTNAP4_uc002few.2_Missense_Mutation_p.C697Y NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 722 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTTCAAAAATGTACTTGTGGA 0.418 16 280 --- --- --- --- PASS CDYL2 124359 broad.mit.edu 37 16 80666953 80666953 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:80666953G>C uc002ffs.2 - 3 902 c.797C>G c.(796-798)TCC>TGC p.S266C NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 266 nucleus catalytic activity|protein binding central_nervous_system(1) 1 GGTCTGACTGGACAGCAGGAT 0.552 78 102 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81194499 81194499 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:81194499G>A uc002fgh.1 - 22 3489 c.3489C>T c.(3487-3489)CCC>CCT p.P1163P PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1163 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTGAATGCCGGGGCAGCAGGA 0.567 12 34 --- --- --- --- PASS NECAB2 54550 broad.mit.edu 37 16 84024221 84024221 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:84024221G>A uc002fhd.2 + 6 599 c.582G>A c.(580-582)CAG>CAA p.Q194Q NECAB2_uc002fhe.2_Silent_p.Q111Q NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 194 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 TCGAGGAACAGACCAGCCAGC 0.612 8 81 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270759 84270759 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:84270759G>A uc010voc.1 - 2 454 c.333C>T c.(331-333)TTC>TTT p.F111F KCNG4_uc002fhu.1_Silent_p.F111F NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 111 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 TGTCGAAGAAGAACTCCTGGC 0.627 42 41 --- --- --- --- PASS FOXF1 2294 broad.mit.edu 37 16 86544562 86544562 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:86544562G>T uc002fjl.2 + 1 430 c.387G>T c.(385-387)GAG>GAT p.E129D uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 129 Fork-head. branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 CGGCCAGCGAGTTCATGTTCG 0.642 10 271 --- --- --- --- PASS ZCCHC14 23174 broad.mit.edu 37 16 87446239 87446239 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:87446239C>G uc002fjz.1 - 12 1704 c.1677G>C c.(1675-1677)ATG>ATC p.M559I ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.M335I NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 559 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCACGTCCATCATGGCGCTGC 0.557 72 96 --- --- --- --- PASS CPNE7 27132 broad.mit.edu 37 16 89650455 89650455 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:89650455C>T uc002fnp.2 + 6 807 c.677C>T c.(676-678)TCG>TTG p.S226L CPNE7_uc002fnq.2_Missense_Mutation_p.S151L NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 226 lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GAGGACATCTCGGGGAACAAC 0.711 47 44 --- --- --- --- PASS DEF8 54849 broad.mit.edu 37 16 90020690 90020690 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:90020690C>T uc002fpn.1 + 3 302 c.213C>T c.(211-213)TTC>TTT p.F71F DEF8_uc002fpl.2_Silent_p.F10F|DEF8_uc002fpm.2_Silent_p.F10F|DEF8_uc002fpo.1_Silent_p.F10F|DEF8_uc002fpp.1_Silent_p.F10F|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Silent_p.F10F NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 71 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) TGGCCCGTTTCCGGCAGGCCC 0.642 15 107 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 1028535 1028535 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:1028535C>T uc002fsd.2 - 2 339 c.229G>A c.(229-231)GAG>AAG p.E77K ABR_uc002fse.2_Missense_Mutation_p.E31K|ABR_uc010cjq.1_Missense_Mutation_p.E89K NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 77 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GCCAGTCCCTCAGGTGGAGTC 0.667 4 97 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195370 3195370 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3195370G>C uc002fvh.1 - 1 507 c.507C>G c.(505-507)CTC>CTG p.L169L NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 CACAGAAGTTGAGCGTGGACA 0.562 5 220 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195694 3195694 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3195694G>T uc002fvh.1 - 1 183 c.183C>A c.(181-183)CCC>CCA p.P61P NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 AGAAGTACATGGGGGTGTGGA 0.557 31 49 --- --- --- --- PASS ASPA 443 broad.mit.edu 37 17 3392563 3392563 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3392563G>C uc010ckg.2 + 5 652 c.561G>C c.(559-561)CTG>CTC p.L187L SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Silent_p.L187L NM_001128085 NP_001121557 P45381 ACY2_HUMAN aspartoacylase 187 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) AAGGGGTTCTGAGAGCTGATA 0.318 13 220 --- --- --- --- PASS TRPV1 7442 broad.mit.edu 37 17 3495371 3495371 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3495371T>G uc010vrr.1 - 1 801 c.274A>C c.(274-276)ACC>CCC p.T92P TRPV1_uc010vro.1_Missense_Mutation_p.T92P|TRPV1_uc010vrp.1_Missense_Mutation_p.T92P|TRPV1_uc010vrq.1_Silent_p.P66P|TRPV1_uc010vrs.1_Missense_Mutation_p.T92P|TRPV1_uc010vrt.1_Missense_Mutation_p.T92P|TRPV1_uc010vru.1_Missense_Mutation_p.T92P NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 92 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CTGGCACCGGTGGGGCCGTCT 0.637 15 25 --- --- --- --- PASS C17orf85 55421 broad.mit.edu 37 17 3724582 3724582 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3724582C>A uc010ckl.1 - 9 984 c.961G>T c.(961-963)GAT>TAT p.D321Y C17orf85_uc002fwr.2_Missense_Mutation_p.D31Y|C17orf85_uc002fwq.2_Missense_Mutation_p.D41Y NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 321 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) CCAACGTCATCCCCAATCAGG 0.443 50 76 --- --- --- --- PASS ATP2A3 489 broad.mit.edu 37 17 3846764 3846764 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3846764C>A uc002fxb.1 - 11 1491 c.1340G>T c.(1339-1341)TGC>TTC p.C447F ATP2A3_uc002fwx.1_Missense_Mutation_p.C447F|ATP2A3_uc002fwy.1_Missense_Mutation_p.C447F|ATP2A3_uc002fwz.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxa.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxc.1_Missense_Mutation_p.C447F|ATP2A3_uc002fxd.1_Missense_Mutation_p.C447F NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 447 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CTCCACCAGGCAAGTCAGAGC 0.642 99 148 --- --- --- --- PASS ZZEF1 23140 broad.mit.edu 37 17 3981258 3981258 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:3981258T>A uc002fxe.2 - 19 2972 c.2908A>T c.(2908-2910)AGC>TGC p.S970C ZZEF1_uc002fxk.1_Missense_Mutation_p.S971C NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 970 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GATAGCAGGCTGCCTTGGACG 0.527 49 70 --- --- --- --- PASS MYBBP1A 10514 broad.mit.edu 37 17 4445961 4445961 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:4445961T>A uc002fyb.3 - 21 3030 c.2968A>T c.(2968-2970)AAC>TAC p.N990Y MYBBP1A_uc002fxz.3_Missense_Mutation_p.N990Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_Missense_Mutation_p.N32Y NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 990 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 AGGGGGCTGTTGCGCTTGGTC 0.642 53 71 --- --- --- --- PASS ZNF594 84622 broad.mit.edu 37 17 5087060 5087060 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:5087060A>G uc010cla.1 - 2 648 c.492T>C c.(490-492)TCT>TCC p.S164S NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 164 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 AACTTTGATTAGAGTCTTTCC 0.333 22 152 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 30 42 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8045131 8045131 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:8045131C>G uc002gkd.2 - 22 3830 c.3592G>C c.(3592-3594)GAT>CAT p.D1198H PER1_uc010cns.2_Missense_Mutation_p.D72H|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1198 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 ACCATCACATCAAGAGCCCGA 0.547 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 16 218 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10295205 10295205 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10295205C>A uc002gmm.2 - 39 5753 c.5658G>T c.(5656-5658)GAG>GAT p.E1886D uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1886 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTACAGCCTCCTCAGCTTGTC 0.398 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 17 270 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10312884 10312884 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10312884G>A uc002gmm.2 - 16 1704 c.1609C>T c.(1609-1611)CTG>TTG p.L537L uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 537 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCCTCTTCCAGGATGGAGAAG 0.473 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 18 98 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10315812 10315812 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10315812C>A uc002gmm.2 - 14 1386 c.1291G>T c.(1291-1293)GCC>TCC p.A431S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 431 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ACGGCTTTGGCCAGAGCACCC 0.502 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 157 293 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10411765 10411765 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10411765C>T uc002gmo.2 - 16 1906 c.1812G>A c.(1810-1812)CTG>CTA p.L604L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 604 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CAGTCTCATTCAGGGGGTCCT 0.522 42 64 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10440603 10440603 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10440603G>C uc010coi.2 - 16 1972 c.1844C>G c.(1843-1845)TCT>TGT p.S615C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S615C|MYH2_uc010coj.2_Missense_Mutation_p.S615C NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 615 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 TTTCATTGCAGACTTCTGGTA 0.448 41 289 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10537469 10537469 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:10537469C>T uc002gmq.1 - 31 4464 c.4387G>A c.(4387-4389)GAG>AAG p.E1463K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1463 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCTTGGCTCTCCTCACACTTT 0.483 7 173 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11572751 11572751 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:11572751G>C uc002gne.2 + 17 3061 c.2993G>C c.(2992-2994)AGA>ACA p.R998T DNAH9_uc010coo.2_Missense_Mutation_p.R292T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 998 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGTCCAGAGAATGATGGGC 0.552 29 40 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11631152 11631152 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:11631152C>A uc002gne.2 + 28 5795 c.5727C>A c.(5725-5727)TAC>TAA p.Y1909* DNAH9_uc010coo.2_Nonsense_Mutation_p.Y1203* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1909 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAACATCTACAAAGGCCTTG 0.473 38 42 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16068381 16068381 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:16068381G>C uc002gpo.2 - 5 770 c.530C>G c.(529-531)TCA>TGA p.S177* NCOR1_uc002gpn.2_Nonsense_Mutation_p.S177*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.S68*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.S68*|NCOR1_uc002gps.1_Nonsense_Mutation_p.S177*|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Nonsense_Mutation_p.S177*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.S177*|NCOR1_uc002gpu.2_Nonsense_Mutation_p.S177* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 177 Potential.|Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTCTTCCTTTGAGAGTTTTGA 0.398 6 187 --- --- --- --- PASS SMCR7 125170 broad.mit.edu 37 17 18167409 18167409 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:18167409C>A uc002gst.2 + 4 907 c.696C>A c.(694-696)TTC>TTA p.F232L SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.F243L NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 232 integral to membrane protein binding 0 all_neural(463;0.228) AGCTTGAGTTCTGCCCCCGTG 0.711 5 6 --- --- --- --- PASS SMCR7 125170 broad.mit.edu 37 17 18167821 18167821 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:18167821C>T uc002gst.2 + 4 1319 c.1108C>T c.(1108-1110)CTG>TTG p.L370L SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.L381L NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 370 integral to membrane protein binding 0 all_neural(463;0.228) TTGCTCGGCTCTGGGGCAGCT 0.677 40 57 --- --- --- --- PASS CCDC144B 284047 broad.mit.edu 37 17 18525829 18525829 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:18525829G>C uc002gub.1 - 2 483 c.398C>G c.(397-399)CCT>CGT p.P133R CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.P133R NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 GTTATTTTGAGGAAGACTTTC 0.299 23 101 --- --- --- --- PASS EPN2 22905 broad.mit.edu 37 17 19232925 19232925 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:19232925C>T uc002gvd.3 + 9 1824 c.1376C>T c.(1375-1377)TCT>TTT p.S459F EPN2_uc010cql.1_Missense_Mutation_p.S168F|EPN2_uc002gve.3_Missense_Mutation_p.S402F|EPN2_uc002gvf.3_Missense_Mutation_p.S174F|EPN2_uc010vyo.1_Missense_Mutation_p.S167F|EPN2_uc010vyp.1_Missense_Mutation_p.S395F|EPN2_uc010vyq.1_Missense_Mutation_p.S396F|EPN2_uc002gvh.1_Missense_Mutation_p.S459F|EPN2_uc002gvj.3_Missense_Mutation_p.S122F NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 459 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GATGACTTTTCTGAATTTGAC 0.428 13 335 --- --- --- --- PASS AKAP10 11216 broad.mit.edu 37 17 19861529 19861529 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:19861529C>G uc002gwo.2 - 4 812 c.675G>C c.(673-675)CTG>CTC p.L225L AKAP10_uc002gwp.1_Silent_p.L225L|AKAP10_uc010cqw.1_Silent_p.L225L|AKAP10_uc010vze.1_Silent_p.L146L NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 225 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TTCTATTATTCAGGTCAATTC 0.428 5 196 --- --- --- --- PASS PIGS 94005 broad.mit.edu 37 17 26881331 26881331 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:26881331G>A uc002hbo.2 - 12 1948 c.1575C>T c.(1573-1575)CTC>CTT p.L525L UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.L517L|PIGS_uc010wap.1_Silent_p.L464L NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 525 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) TAGGCAGGAAGAGTGGGATGT 0.542 11 213 --- --- --- --- PASS GIT1 28964 broad.mit.edu 37 17 27901841 27901841 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:27901841G>T uc002hef.2 - 20 2379 c.2165C>A c.(2164-2166)CCA>CAA p.P722Q GIT1_uc002heg.2_Missense_Mutation_p.P731Q|GIT1_uc010wbg.1_Missense_Mutation_p.P708Q|GIT1_uc010csb.1_3'UTR NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 722 Interaction with PXN and TGFB1I1 (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GCCGGGCTCTGGGGGCACTGT 0.667 7 23 --- --- --- --- PASS ANKRD13B 124930 broad.mit.edu 37 17 27936431 27936431 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:27936431G>A uc002hei.2 + 7 927 c.814G>A c.(814-816)GAA>AAA p.E272K ANKRD13B_uc002heh.2_Missense_Mutation_p.E140K|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 272 0 GAATGGGTATGAAGCTAAGGT 0.607 6 52 --- --- --- --- PASS CRLF3 51379 broad.mit.edu 37 17 29120551 29120551 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:29120551C>G uc002hfr.3 - 5 852 c.743G>C c.(742-744)AGA>ACA p.R248T CRLF3_uc010wbr.1_Missense_Mutation_p.R132T NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 248 Fibronectin type-III. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) GGCGCAGACTCTGAACTGGTA 0.453 53 156 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29185178 29185178 + Splice_Site SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:29185178G>T uc002hfs.1 + 9 3140 c.2794_splice c.e9-1 p.F932_splice ATAD5_uc002hft.1_Splice_Site_p.F829_splice NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTTTATTGCAGTTCATGAGGA 0.308 27 104 --- --- --- --- PASS C17orf42 79736 broad.mit.edu 37 17 29227467 29227467 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:29227467C>T uc002hfu.2 - 3 679 c.609G>A c.(607-609)ATG>ATA p.M203I C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.M203I NM_024683 NP_078959 Q96QE5 TEFM_HUMAN hypothetical protein LOC79736 203 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding ovary(1) 1 all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) ATATTCCTCTCATTAAACTCC 0.438 20 196 --- --- --- --- PASS ADAP2 55803 broad.mit.edu 37 17 29261292 29261292 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:29261292C>T uc002hfx.2 + 5 766 c.487C>T c.(487-489)CTG>TTG p.L163L ADAP2_uc010csk.2_Silent_p.L169L|ADAP2_uc002hfy.2_Silent_p.L163L|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 163 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 AGAAGGCCTCCTGAAGTACTT 0.488 25 58 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29587397 29587397 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:29587397G>C uc002hgg.2 + 34 4774 c.4441G>C c.(4441-4443)GAT>CAT p.D1481H NF1_uc002hgh.2_Missense_Mutation_p.D1460H|NF1_uc002hgi.1_Missense_Mutation_p.D493H NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1481 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(3) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTTTCCTTGATATAGCATC 0.343 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 12 284 --- --- --- --- PASS RHBDL3 162494 broad.mit.edu 37 17 30611719 30611719 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:30611719C>T uc002hhe.1 + 3 191 c.177C>T c.(175-177)TTC>TTT p.F59F RHBDL3_uc010csw.1_Silent_p.F51F|RHBDL3_uc010csx.1_Silent_p.F59F|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 59 EF-hand 1. proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) CAGGCAAGTTCCGGAGTCTTC 0.592 36 51 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 31355356 31355356 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:31355356C>G uc002hhu.2 - 4 1163 c.889G>C c.(889-891)GAC>CAC p.D297H ACCN1_uc002hht.2_Missense_Mutation_p.D348H NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 297 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GGAAAAAAGTCGAGGCCCATC 0.562 7 85 --- --- --- --- PASS CCL3 6348 broad.mit.edu 37 17 34416616 34416616 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:34416616C>G uc002hkv.2 - 2 203 c.101G>C c.(100-102)TGC>TCC p.C34S NM_002983 NP_002974 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 34 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTAGCTGAAGCAGCAGGCGGT 0.552 55 113 --- --- --- --- PASS DDX52 11056 broad.mit.edu 37 17 35980966 35980966 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:35980966C>T uc002hoi.1 - 12 1567 c.1529G>A c.(1528-1530)GGA>GAA p.G510E DDX52_uc002hoh.1_Missense_Mutation_p.G402E NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 510 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) AATTGCTTTTCCCTTATTCCC 0.323 40 87 --- --- --- --- PASS STAC2 342667 broad.mit.edu 37 17 37373068 37373068 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:37373068G>T uc002hrs.2 - 4 800 c.581C>A c.(580-582)CCC>CAC p.P194H STAC2_uc010cvt.2_Missense_Mutation_p.P52H NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 194 intracellular signal transduction metal ion binding pancreas(1) 1 CTCACCAGTGGGTGGGGACTC 0.512 9 10 --- --- --- --- PASS IKZF3 22806 broad.mit.edu 37 17 37949016 37949016 + Silent SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:37949016T>G uc002hsu.2 - 4 396 c.334A>C c.(334-336)AGG>CGG p.R112R IKZF3_uc002htd.2_Silent_p.R78R|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.R78R|IKZF3_uc010cwe.2_Silent_p.R112R|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.R112R|IKZF3_uc002hsx.2_Silent_p.R112R|IKZF3_uc002hsy.2_Silent_p.R112R|IKZF3_uc002hsz.2_Silent_p.R112R|IKZF3_uc002hta.2_Silent_p.R112R|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 112 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGGTTGGCCTGCTACTATCG 0.393 28 197 --- --- --- --- PASS PSMD3 5709 broad.mit.edu 37 17 38152561 38152561 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:38152561C>A uc002htn.1 + 10 1610 c.1446C>A c.(1444-1446)TTC>TTA p.F482L PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.F383L NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 482 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) GCATCTCCTTCTGCCTAGATA 0.557 54 300 --- --- --- --- PASS THRA 7067 broad.mit.edu 37 17 38230776 38230776 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:38230776C>G uc002htw.2 + 2 518 c.35C>G c.(34-36)TCA>TGA p.S12* THRA_uc010cwp.1_Nonsense_Mutation_p.S12*|THRA_uc002htv.2_Nonsense_Mutation_p.S12*|THRA_uc002htx.2_Nonsense_Mutation_p.S12* NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 12 Modulating. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GAGTGTGGGTCAGACCCAGAG 0.582 8 62 --- --- --- --- PASS WIPF2 147179 broad.mit.edu 37 17 38421164 38421164 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:38421164C>T uc002hug.1 + 5 976 c.736C>T c.(736-738)CAG>TAG p.Q246* WIPF2_uc002huh.1_Nonsense_Mutation_p.Q96*|WIPF2_uc010cww.1_Nonsense_Mutation_p.Q96*|WIPF2_uc002hui.1_Nonsense_Mutation_p.Q246*|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Nonsense_Mutation_p.Q246* NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 246 cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 ACCAAGTGGCCAGTCTCTGGC 0.617 HNSCC(43;0.11) 12 255 --- --- --- --- PASS KRT28 162605 broad.mit.edu 37 17 38956043 38956043 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:38956043C>A uc002hvh.1 - 1 169 c.103G>T c.(103-105)GCA>TCA p.A35S NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 35 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CCACCACATGCACTGCTGCCT 0.547 15 180 --- --- --- --- PASS KRT12 3859 broad.mit.edu 37 17 39023065 39023065 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:39023065T>A uc002hvk.2 - 1 398 c.374A>T c.(373-375)GAA>GTA p.E125V NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 125 Rod.|Coil 1A. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) AGTTTCTTTTTCTGATCCAGA 0.463 23 403 --- --- --- --- PASS HAP1 9001 broad.mit.edu 37 17 39883619 39883619 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:39883619C>T uc002hxm.1 - 9 1374 c.1362G>A c.(1360-1362)GTG>GTA p.V454V JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 454 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GGAGGGTCTTCACCTCCTCCT 0.627 24 119 --- --- --- --- PASS ACLY 47 broad.mit.edu 37 17 40030069 40030069 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:40030069C>T uc002hyg.2 - 23 2800 c.2637G>A c.(2635-2637)CAG>CAA p.Q879Q ACLY_uc002hyh.2_Silent_p.Q869Q|ACLY_uc002hyi.2_Silent_p.Q933Q|ACLY_uc010wfx.1_Silent_p.Q923Q|ACLY_uc010wfy.1_Silent_p.Q608Q NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 879 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) CTCACCTTTTCTGGAACCAGA 0.577 44 215 --- --- --- --- PASS UBTF 7343 broad.mit.edu 37 17 42289010 42289010 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:42289010C>T uc002igb.2 - 9 1078 c.1011G>A c.(1009-1011)CAG>CAA p.Q337Q UBTF_uc002igc.2_Silent_p.Q300Q|UBTF_uc010czs.2_Silent_p.Q337Q|UBTF_uc002igd.2_Silent_p.Q300Q|UBTF_uc010czt.2_Silent_p.Q337Q|UBTF_uc002ige.2_Silent_p.Q300Q NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 337 HMG box 3. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CCTTCTCCTTCTGGGACAGCA 0.582 25 147 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43531063 43531063 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:43531063C>T uc002ija.2 - 7 2325 c.2155G>A c.(2155-2157)GAG>AAG p.E719K PLEKHM1_uc010wjm.1_Missense_Mutation_p.E691K|PLEKHM1_uc002ijb.2_Missense_Mutation_p.E194K|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E668K|PLEKHM1_uc002ijc.2_Missense_Mutation_p.E173K NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 719 PH 2. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) AGCATCTTCTCATTGTTCCTG 0.527 12 54 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43552830 43552830 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:43552830C>T uc002ija.2 - 4 729 c.559G>A c.(559-561)GAG>AAG p.E187K PLEKHM1_uc010wjm.1_Missense_Mutation_p.E159K|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E136K|hsa-mir-4315-1|MI0015844_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 187 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) AGCGTCCACTCATTTAAGATG 0.572 18 123 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43552914 43552914 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:43552914C>A uc002ija.2 - 4 645 c.475G>T c.(475-477)GAG>TAG p.E159* PLEKHM1_uc010wjm.1_Nonsense_Mutation_p.E131*|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Nonsense_Mutation_p.E108*|hsa-mir-4315-1|MI0015844_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 159 RUN. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TCGCCCTCCTCAGCATCCCGG 0.597 11 82 --- --- --- --- PASS C17orf57 124989 broad.mit.edu 37 17 45412602 45412602 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:45412602C>G uc002iln.2 + 5 482 c.71C>G c.(70-72)TCT>TGT p.S24C ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Missense_Mutation_p.S24C|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S24C NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 24 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GGCTCTAATTCTTTTGCAACT 0.343 45 303 --- --- --- --- PASS SP6 80320 broad.mit.edu 37 17 45925390 45925390 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:45925390G>C uc002img.1 - 2 738 c.406C>G c.(406-408)CAG>GAG p.Q136E SP6_uc002imh.1_Missense_Mutation_p.Q136E NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGCGCGCCCTGAGTGTGGGGG 0.687 6 20 --- --- --- --- PASS SKAP1 8631 broad.mit.edu 37 17 46247982 46247982 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:46247982C>G uc002ini.1 - 10 978 c.866G>C c.(865-867)CGA>CCA p.R289P SKAP1_uc002inj.1_Missense_Mutation_p.R289P|SKAP1_uc010dbd.1_Missense_Mutation_p.R195P|SKAP1_uc010dbe.1_Missense_Mutation_p.R289P NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 289 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 TCCTTTTCGTCGAGTGCCACT 0.403 135 266 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48696040 48696040 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:48696040G>C uc002irk.1 + 33 5824 c.5452G>C c.(5452-5454)GAG>CAG p.E1818Q CACNA1G_uc002irj.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irl.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002irm.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irn.1_Missense_Mutation_p.E1777Q|CACNA1G_uc002iro.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irp.1_Missense_Mutation_p.E1818Q|CACNA1G_uc002irq.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002irr.1_Missense_Mutation_p.E1818Q|CACNA1G_uc002irs.1_Missense_Mutation_p.E1807Q|CACNA1G_uc002irt.1_Missense_Mutation_p.E1800Q|CACNA1G_uc002irv.1_Missense_Mutation_p.E1807Q|CACNA1G_uc002irw.1_Missense_Mutation_p.E1795Q|CACNA1G_uc002iru.1_Missense_Mutation_p.E1784Q|CACNA1G_uc002irx.1_Missense_Mutation_p.E1731Q|CACNA1G_uc002iry.1_Missense_Mutation_p.E1720Q|CACNA1G_uc002irz.1_Missense_Mutation_p.E1724Q|CACNA1G_uc002isa.1_Missense_Mutation_p.E1697Q|CACNA1G_uc002isb.1_Missense_Mutation_p.E1738Q|CACNA1G_uc002isc.1_Missense_Mutation_p.E1720Q|CACNA1G_uc002isd.1_Missense_Mutation_p.E1706Q|CACNA1G_uc002ise.1_Missense_Mutation_p.E1686Q|CACNA1G_uc002isf.1_Missense_Mutation_p.E1713Q|CACNA1G_uc002isg.1_Missense_Mutation_p.E1679Q|CACNA1G_uc002ish.1_Missense_Mutation_p.E1686Q|CACNA1G_uc002isi.1_Missense_Mutation_p.E1674Q NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1818 IV.|Extracellular (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) CTGTGACCAGGAGTCCACCTG 0.572 11 62 --- --- --- --- PASS SPAG9 9043 broad.mit.edu 37 17 49197929 49197929 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:49197929G>C uc002itc.2 - 1 298 c.89C>G c.(88-90)TCC>TGC p.S30C SPAG9_uc002itb.2_Missense_Mutation_p.S30C|SPAG9_uc002itd.2_Missense_Mutation_p.S30C NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 30 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) GCGGTAGATGGAGCCGGCCAG 0.667 7 14 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 49710972 49710972 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:49710972G>C uc002itw.3 - 8 1815 c.829C>G c.(829-831)CAG>GAG p.Q277E CA10_uc002itu.3_Missense_Mutation_p.Q206E|CA10_uc002itv.3_Missense_Mutation_p.Q283E|CA10_uc002itx.3_Missense_Mutation_p.Q277E|CA10_uc002ity.3_Missense_Mutation_p.Q277E|CA10_uc002itz.2_Missense_Mutation_p.Q277E NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 277 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AGAAAGATCTGAGATGGCTGG 0.507 35 77 --- --- --- --- PASS C17orf47 284083 broad.mit.edu 37 17 56620706 56620706 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:56620706G>C uc002iwq.1 - 1 978 c.842C>G c.(841-843)TCT>TGT p.S281C SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 281 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACACCATCAGAATCTTTAAG 0.448 9 247 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57181689 57181689 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:57181689G>T uc002iwy.3 - 2 532 c.88C>A c.(88-90)CAT>AAT p.H30N TRIM37_uc002iwz.3_Missense_Mutation_p.H30N|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 30 RING-type; degenerate. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTGGAGCAATGAGGACACAGG 0.368 Mulibrey_Nanism 4 103 --- --- --- --- PASS BRIP1 83990 broad.mit.edu 37 17 59761290 59761290 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:59761290C>T uc002izk.1 - 20 3258 c.3117G>A c.(3115-3117)GAG>GAA p.E1039E NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1039 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TTTCCATCTTCTCTGTTTTGA 0.418 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 40 298 --- --- --- --- PASS CCDC47 57003 broad.mit.edu 37 17 61842099 61842099 + Splice_Site SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:61842099C>G uc002jbs.3 - 3 708 c.372_splice c.e3+1 p.D124_splice CCDC47_uc010ddx.2_Splice_Site_p.D124_splice|CCDC47_uc002jbt.2_Splice_Site_p.D124_splice NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor integral to membrane protein binding 0 TGGATACCTACATCAACAATC 0.333 25 156 --- --- --- --- PASS CSH2 1443 broad.mit.edu 37 17 61950643 61950643 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:61950643C>A uc002jch.2 - 2 182 c.67G>T c.(67-69)GAG>TAG p.E23* CSH2_uc002jcg.2_Nonsense_Mutation_p.E23*|CSH2_uc002jci.2_Nonsense_Mutation_p.E23*|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Nonsense_Mutation_p.E23* NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 23 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 GCACCAGCCTCTTGAAGCCAG 0.622 10 70 --- --- --- --- PASS ABCA5 23461 broad.mit.edu 37 17 67270115 67270115 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:67270115G>T uc002jif.2 - 19 3967 c.2749C>A c.(2749-2751)CTT>ATT p.L917I ABCA5_uc002jic.2_Missense_Mutation_p.L140I|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L917I|ABCA5_uc002jih.2_Missense_Mutation_p.L917I|ABCA5_uc010dfe.2_Missense_Mutation_p.L917I NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 917 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GAATTTTGAAGAAGCAGACTT 0.398 6 178 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71346925 71346925 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:71346925C>G uc010dfm.2 - 42 5763 c.5763G>C c.(5761-5763)CAG>CAC p.Q1921H SDK2_uc002jjt.3_Missense_Mutation_p.Q1061H NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1921 Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 GGTTGGCTTTCTGGGCTGGAG 0.542 19 164 --- --- --- --- PASS ARMC7 79637 broad.mit.edu 37 17 73106666 73106666 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:73106666C>G uc002jmw.1 + 2 502 c.200C>G c.(199-201)TCG>TGG p.S67W ARMC7_uc002jmv.1_Missense_Mutation_p.S67W|ARMC7_uc010wru.1_Intron NM_024585 NP_078861 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 67 ARM 1. binding pancreas(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) GATTCGCTGTCGGAGGAGAAT 0.537 15 125 --- --- --- --- PASS SOCS3 9021 broad.mit.edu 37 17 76354523 76354523 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:76354523C>T uc002jvl.2 - 2 1070 c.654G>A c.(652-654)CTG>CTA p.L218L NM_003955 NP_003946 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 218 SOCS box. anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) CGTACTGGTCCAGGAACTCCC 0.622 4 84 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78073442 78073442 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:78073442C>G uc010dht.2 + 20 3324 c.3297C>G c.(3295-3297)CGC>CGG p.R1099R CCDC40_uc002jxm.3_Silent_p.R882R|CCDC40_uc002jxn.3_Silent_p.R495R|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1099 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCGCCAGCGCCTGGACAAGC 0.642 7 65 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78360162 78360162 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:78360162C>T uc002jyh.1 + 37 9094 c.8871C>T c.(8869-8871)GTC>GTT p.V2957V uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCGCTCTCGTCAGCTACTTGA 0.532 10 180 --- --- --- --- PASS C17orf70 80233 broad.mit.edu 37 17 79516348 79516348 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:79516348C>G uc002kaq.2 - 4 1342 c.1287G>C c.(1285-1287)CTG>CTC p.L429L C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.L278L NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 429 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGCAGGTCATCAGGCGGCCTT 0.607 6 77 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80054246 80054246 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr17:80054246G>A uc002kdu.2 - 2 193 c.76C>T c.(76-78)CTC>TTC p.L26F NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 26 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCGCCGATGAGGTTGTCCCAG 0.647 19 100 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 333090 333090 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:333090C>G uc002kkm.2 - 7 2085 c.1870G>C c.(1870-1872)GAG>CAG p.E624Q NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 624 Extracellular (Potential).|C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) ATTTCTTTCTCAACTGAAAAA 0.393 26 351 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 335072 335072 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:335072G>T uc002kkm.2 - 6 1701 c.1486C>A c.(1486-1488)CGT>AGT p.R496S NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 496 Collagen-like 2.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TTGCCGCCACGCTCTCCGGGG 0.677 14 250 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 335092 335092 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:335092G>A uc002kkm.2 - 6 1681 c.1466C>T c.(1465-1467)CCA>CTA p.P489L NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 489 Collagen-like 2.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGGACCAGCTGGTCCAATTGG 0.677 19 282 --- --- --- --- PASS CLUL1 27098 broad.mit.edu 37 18 627255 627255 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:627255C>G uc002kkp.2 + 5 727 c.582C>G c.(580-582)CTC>CTG p.L194L CLUL1_uc010wys.1_Silent_p.L246L|CLUL1_uc002kkq.2_Silent_p.L194L NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 194 cell death extracellular region ovary(2) 2 TGAATTCTCTCTTTAACAGGA 0.408 63 826 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2705786 2705786 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:2705786G>A uc002klm.3 + 14 2126 c.1937G>A c.(1936-1938)GGA>GAA p.G646E SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 646 chromosome organization ATP binding 0 GCTACAGGAGGAGAGGTTCAA 0.343 17 201 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2750347 2750347 + Splice_Site SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:2750347G>T uc002klm.3 + 32 4197 c.4008_splice c.e32-1 p.R1336_splice SMCHD1_uc002klk.3_Splice_Site|SMCHD1_uc002kll.3_Splice_Site NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible chromosome organization ATP binding 0 TGTTTTGTTAGGGGAGAGCAT 0.338 13 164 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2750348 2750348 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:2750348G>T uc002klm.3 + 32 4197 c.4008G>T c.(4006-4008)AGG>AGT p.R1336S SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1336 chromosome organization ATP binding 0 GTTTTGTTAGGGGAGAGCATA 0.343 13 163 --- --- --- --- PASS EMILIN2 84034 broad.mit.edu 37 18 2891883 2891883 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:2891883C>G uc002kln.2 + 4 1917 c.1758C>G c.(1756-1758)CTC>CTG p.L586L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 586 Potential. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TGAAATCTCTCAACGACACGA 0.463 15 190 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2960699 2960699 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:2960699G>T uc002klo.2 - 2 379 c.140C>A c.(139-141)CCT>CAT p.P47H NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 47 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AACGTGAAAAGGTGAACACTG 0.488 24 386 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3086147 3086147 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3086147C>A uc002klp.2 - 30 4474 c.4140G>T c.(4138-4140)GTG>GTT p.V1380V MYOM1_uc002klq.2_Silent_p.V1284V NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1380 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TAATATTTGCCACCTAGGAGA 0.343 14 265 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3134771 3134771 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3134771G>A uc002klp.2 - 16 2595 c.2261C>T c.(2260-2262)TCA>TTA p.S754L MYOM1_uc002klq.2_Missense_Mutation_p.S754L NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 754 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 AACTACCACTGAGGTGTCTGT 0.488 16 260 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3502631 3502631 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3502631G>A uc002kmf.2 - 9 2651 c.2584C>T c.(2584-2586)CAT>TAT p.H862Y DLGAP1_uc010wyz.1_Missense_Mutation_p.H862Y|DLGAP1_uc002kme.1_Missense_Mutation_p.H560Y|DLGAP1_uc010dkn.2_Missense_Mutation_p.H570Y|DLGAP1_uc010wyw.1_Missense_Mutation_p.H568Y|DLGAP1_uc010wyx.1_Missense_Mutation_p.H584Y|DLGAP1_uc010wyy.1_Missense_Mutation_p.H546Y|DLGAP1_uc002kmg.2_Missense_Mutation_p.H560Y NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 862 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GGTCTTGGATGAGCATTAGGA 0.383 36 367 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879723 3879723 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3879723C>T uc002kmf.2 - 1 413 c.346G>A c.(346-348)GAT>AAT p.D116N DLGAP1_uc010wyz.1_Missense_Mutation_p.D116N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D116N|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 116 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TGATAGCCATCGCGGCTGAGT 0.687 12 132 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879819 3879819 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3879819C>T uc002kmf.2 - 1 317 c.250G>A c.(250-252)GAG>AAG p.E84K DLGAP1_uc010wyz.1_Missense_Mutation_p.E84K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E84K|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 84 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) AGGGCACACTCGTCCTTCAGC 0.682 13 282 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879831 3879831 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3879831C>G uc002kmf.2 - 1 305 c.238G>C c.(238-240)GAG>CAG p.E80Q DLGAP1_uc010wyz.1_Missense_Mutation_p.E80Q|DLGAP1_uc002kmk.2_Missense_Mutation_p.E80Q|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 80 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TCCTTCAGCTCTTGCTGCGAG 0.677 12 279 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879957 3879957 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:3879957C>T uc002kmf.2 - 1 179 c.112G>A c.(112-114)GAG>AAG p.E38K DLGAP1_uc010wyz.1_Missense_Mutation_p.E38K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E38K|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 38 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GGGTGGTGCTCCACTGGGCTC 0.672 19 263 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5395691 5395691 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:5395691C>T uc002kmt.1 - 20 3075 c.2989G>A c.(2989-2991)GAT>AAT p.D997N EPB41L3_uc010wzh.1_Missense_Mutation_p.D828N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D775N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D666N|EPB41L3_uc002kms.1_Missense_Mutation_p.D232N|EPB41L3_uc010wze.1_Missense_Mutation_p.D302N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D294N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D269N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D389N NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 997 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GGCTCCAGATCTGTGCCTGGA 0.512 59 415 --- --- --- --- PASS ARHGAP28 79822 broad.mit.edu 37 18 6859846 6859846 + Missense_Mutation SNP G T T rs147162571 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:6859846G>T uc010wzi.1 + 4 383 c.145G>T c.(145-147)GCA>TCA p.A49S ARHGAP28_uc002knc.2_Missense_Mutation_p.A174S|ARHGAP28_uc002knd.2_Missense_Mutation_p.A67S|ARHGAP28_uc002kne.2_Missense_Mutation_p.A67S|ARHGAP28_uc002knf.2_Missense_Mutation_p.A58S B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 49 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CCTGTCTGACGCATCCCAGGA 0.428 62 395 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6977865 6977865 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:6977865C>G uc002knm.2 - 44 6300 c.6206G>C c.(6205-6207)AGA>ACA p.R2069T LAMA1_uc010wzj.1_Missense_Mutation_p.R1545T NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2069 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTGACTTTTCTTCCAGCCAA 0.398 9 56 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7037697 7037697 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:7037697G>C uc002knm.2 - 12 1711 c.1617C>G c.(1615-1617)ATC>ATG p.I539M LAMA1_uc010wzj.1_Missense_Mutation_p.I15M NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 539 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGAGACGGGATCTTCCTGG 0.507 22 135 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9258259 9258259 + Missense_Mutation SNP A C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:9258259A>C uc002knv.2 + 9 5251 c.4994A>C c.(4993-4995)AAT>ACT p.N1665T ANKRD12_uc002knw.2_Missense_Mutation_p.N1642T|ANKRD12_uc002knx.2_Missense_Mutation_p.N1642T|ANKRD12_uc010dkx.1_Missense_Mutation_p.N1372T NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1665 nucleus ovary(2)|central_nervous_system(1) 3 GGAAACCTAAATGAACAAGAT 0.348 13 97 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9263833 9263833 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:9263833C>T uc002knv.2 + 10 5967 c.5710C>T c.(5710-5712)CGA>TGA p.R1904* ANKRD12_uc002knw.2_Nonsense_Mutation_p.R1881*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.R1881* NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1904 nucleus ovary(2)|central_nervous_system(1) 3 AGAGCTTTTTCGACAACAGGA 0.299 26 174 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13438368 13438368 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:13438368C>T uc002ksa.2 + 4 834 c.166C>T c.(166-168)CCG>TCG p.P56S C18orf1_uc002ksb.2_Missense_Mutation_p.P56S NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 56 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) GCACCCGCCTCCGGGCATCTT 0.542 32 257 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13438379 13438379 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:13438379C>T uc002ksa.2 + 4 845 c.177C>T c.(175-177)TTC>TTT p.F59F C18orf1_uc002ksb.2_Silent_p.F59F NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 59 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CGGGCATCTTCAACTGTAAGT 0.547 41 247 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13645550 13645550 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:13645550G>A uc002ksa.2 + 7 1483 c.815G>A c.(814-816)CGC>CAC p.R272H C18orf1_uc002ksb.2_Missense_Mutation_p.R254H|C18orf1_uc002kse.2_Missense_Mutation_p.R235H|C18orf1_uc002ksf.2_Missense_Mutation_p.R217H|C18orf1_uc002ksg.1_Missense_Mutation_p.R195H|C18orf1_uc002ksh.1_Missense_Mutation_p.R214H|C18orf1_uc002ksi.1_Missense_Mutation_p.R196H NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 272 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CATCACCAGCGCAGCAACGCA 0.587 4 161 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31323250 31323250 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:31323250T>C uc010dmg.1 + 12 3493 c.3438T>C c.(3436-3438)TCT>TCC p.S1146S ASXL3_uc002kxq.2_Silent_p.S853S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAGTCTCTTCTACCCCTGAAA 0.507 9 38 --- --- --- --- PASS ME2 4200 broad.mit.edu 37 18 48473422 48473422 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:48473422C>G uc002ley.2 + 16 1879 c.1623C>G c.(1621-1623)TTC>TTG p.F541L ME2_uc010dpd.2_3'UTR NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 541 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) AAATGGCTTTCCGATACCCAG 0.383 23 319 --- --- --- --- PASS TCF4 6925 broad.mit.edu 37 18 52899786 52899786 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:52899786C>G uc002lfz.2 - 17 2215 c.1603G>C c.(1603-1605)GAT>CAT p.D535H TCF4_uc002lfw.3_Missense_Mutation_p.D375H|TCF4_uc010xdu.1_Missense_Mutation_p.D405H|TCF4_uc010xdv.1_Missense_Mutation_p.D405H|TCF4_uc002lfx.2_Missense_Mutation_p.D464H|TCF4_uc010xdw.1_Missense_Mutation_p.D405H|TCF4_uc002lfy.2_Missense_Mutation_p.D493H|TCF4_uc010xdx.1_Missense_Mutation_p.D511H|TCF4_uc010dph.1_Missense_Mutation_p.D535H|TCF4_uc010xdy.1_Missense_Mutation_p.D511H|TCF4_uc002lga.2_Missense_Mutation_p.D637H|TCF4_uc002lgb.1_Missense_Mutation_p.D375H|TCF4_uc010dpi.2_Missense_Mutation_p.D541H|TCF4_uc002lfv.2_Missense_Mutation_p.D318H NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 535 D -> G (in PTHS; loss of function). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTGTCGTCATCTAATTTCTTG 0.413 6 116 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64197089 64197089 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:64197089G>T uc002lkc.1 - 9 1589 c.1451C>A c.(1450-1452)TCT>TAT p.S484Y CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S484Y NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TACCTGACCAGAGCCTGCATT 0.279 42 143 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417456 70417456 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:70417456T>A uc002lkw.2 - 9 1666 c.1382A>T c.(1381-1383)CAG>CTG p.Q461L NETO1_uc002lkx.1_Missense_Mutation_p.Q460L|NETO1_uc002lky.1_Missense_Mutation_p.Q461L NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 461 Cytoplasmic (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) TTTTCCTGGCTGTGTGGGCAT 0.483 4 90 --- --- --- --- PASS FBXO15 201456 broad.mit.edu 37 18 71796839 71796839 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:71796839A>G uc002lle.2 - 5 694 c.358T>C c.(358-360)TTA>CTA p.L120L FBXO15_uc002llf.2_Silent_p.L196L NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 120 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GCCCAACCTAAACCAAATATT 0.303 21 55 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74635112 74635112 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:74635112C>G uc002lmi.2 + 21 3835 c.3637C>G c.(3637-3639)CAT>GAT p.H1213D ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1213 C2H2-type 23. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCTCGATTGTCATGTGAAGAC 0.383 13 59 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74639006 74639006 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:74639006G>C uc002lmi.2 + 23 4233 c.4035G>C c.(4033-4035)CTG>CTC p.L1345L ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1345 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGGGTGACCTGACCGTGTCTC 0.418 22 117 --- --- --- --- PASS ADNP2 22850 broad.mit.edu 37 18 77895042 77895042 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr18:77895042G>A uc002lnw.2 + 4 2201 c.1746G>A c.(1744-1746)GTG>GTA p.V582V NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 582 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) ATCAGCCAGTGAGACCTGGTG 0.537 18 83 --- --- --- --- PASS MED16 10025 broad.mit.edu 37 19 875362 875362 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:875362G>C uc002lqd.1 - 10 1804 c.1653C>G c.(1651-1653)CTC>CTG p.L551L MED16_uc010drw.1_Silent_p.L376L|MED16_uc002lqe.2_Silent_p.L540L|MED16_uc002lqf.2_Silent_p.L540L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Silent_p.L471L|MED16_uc010xfx.1_Silent_p.L396L|MED16_uc010xfy.1_Intron|MED16_uc010xfz.1_5'Flank NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 551 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;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) CGATGAGGAAGAGCTTGGTGT 0.647 30 50 --- --- --- --- PASS MUM1 84939 broad.mit.edu 37 19 1360266 1360266 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:1360266G>C uc010xgm.1 + 4 415 c.346G>C c.(346-348)GAC>CAC p.D116H MUM1_uc010dsi.2_Missense_Mutation_p.D48H|MUM1_uc002lrz.2_Missense_Mutation_p.D117H|MUM1_uc002lsb.2_Missense_Mutation_p.D48H|MUM1_uc002lsc.1_Missense_Mutation_p.D48H Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 116 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|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) AGGTAGAGCTGACCGGTCTCT 0.597 OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 107 --- --- --- --- PASS MUM1 84939 broad.mit.edu 37 19 1360504 1360504 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:1360504G>C uc010xgm.1 + 4 653 c.584G>C c.(583-585)GGA>GCA p.G195A MUM1_uc010dsi.2_Missense_Mutation_p.G127A|MUM1_uc002lrz.2_Missense_Mutation_p.G196A|MUM1_uc002lsb.2_Missense_Mutation_p.G127A|MUM1_uc002lsc.1_Missense_Mutation_p.G127A Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 195 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|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) CTCCCAGCTGGAGGTGGTGCC 0.532 OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 42 --- --- --- --- PASS MOBKL2A 126308 broad.mit.edu 37 19 2078284 2078284 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:2078284C>T uc002luu.2 - 1 435 c.276G>A c.(274-276)TCG>TCA p.S92S MOBKL2A_uc002luv.2_Silent_p.S92S NM_130807 NP_570719 Q96BX8 MOL2A_HUMAN MOB-LAK 92 intracellular metal ion binding lung(1) 1 Ovarian(11;1.78e-06)|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) TGGGGCCCCCCGACATGACGG 0.612 5 30 --- --- --- --- PASS NFIC 4782 broad.mit.edu 37 19 3381931 3381931 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:3381931C>G uc010xhi.1 + 2 314 c.252C>G c.(250-252)ATC>ATG p.I84M NFIC_uc002lxo.2_Missense_Mutation_p.I75M|NFIC_uc010xhh.1_Missense_Mutation_p.I75M|NFIC_uc002lxp.2_Missense_Mutation_p.I84M|NFIC_uc010xhj.1_Missense_Mutation_p.I84M|NFIC_uc002lxq.1_Missense_Mutation_p.I36M NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 84 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCAAGGACATCCGGCCCGAGT 0.677 6 149 --- --- --- --- PASS PTPRS 5802 broad.mit.edu 37 19 5244280 5244280 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:5244280C>G uc002mbv.2 - 11 1436 c.1202G>C c.(1201-1203)TGG>TCG p.W401S PTPRS_uc002mbu.1_Missense_Mutation_p.W388S|PTPRS_uc010xin.1_Missense_Mutation_p.W388S|PTPRS_uc002mbw.2_Missense_Mutation_p.W388S|PTPRS_uc002mbx.2_Missense_Mutation_p.W392S|PTPRS_uc002mby.2_Missense_Mutation_p.W388S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 401 Fibronectin type-III 1.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGCCGACACCCAGATCTCGTA 0.647 9 81 --- --- --- --- PASS LONP1 9361 broad.mit.edu 37 19 5692044 5692044 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:5692044C>T uc002mcx.2 - 18 2912 c.2879G>A c.(2878-2880)TGA>TAA p.*960* LONP1_uc002mcy.2_Silent_p.*896*|LONP1_uc010duh.2_Silent_p.*701*|LONP1_uc010dui.2_Silent_p.*944*|LONP1_uc002mcz.2_Silent_p.*764* NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 960 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GGGTGGCCGTCACCGTTCCAC 0.687 4 92 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6825109 6825109 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:6825109G>C uc002mfu.1 + 7 797 c.700G>C c.(700-702)GAG>CAG p.E234Q VAV1_uc010xjh.1_Missense_Mutation_p.E202Q|VAV1_uc010dva.1_Missense_Mutation_p.E234Q|VAV1_uc002mfv.1_Missense_Mutation_p.E179Q NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 234 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TCAAGACATTGAGATCATCTT 0.537 58 165 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6896534 6896534 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:6896534C>T uc002mfw.2 + 3 258 c.220C>T c.(220-222)CCA>TCA p.P74S EMR1_uc010dvc.2_Missense_Mutation_p.P74S|EMR1_uc010dvb.2_Missense_Mutation_p.P74S|EMR1_uc010xji.1_Missense_Mutation_p.P74S|EMR1_uc010xjj.1_Missense_Mutation_p.P74S NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 74 Extracellular (Potential).|EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CTTCAAGGATCCAGGAGTGCG 0.483 71 75 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8150300 8150300 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:8150300G>A uc002mjf.2 - 55 7055 c.7034C>T c.(7033-7035)TCT>TTT p.S2345F FBN3_uc002mje.2_Missense_Mutation_p.S184F NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2345 TB 9. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCTGTAGGCAGAGGTGCCGGG 0.706 5 10 --- --- --- --- PASS NDUFA7 4701 broad.mit.edu 37 19 8381519 8381519 + Missense_Mutation SNP G T T rs142961225 by1000genomes TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:8381519G>T uc002mjm.1 - 3 150 c.112C>A c.(112-114)CCT>ACT p.P38T NM_005001 NP_004992 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 38 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) AGCTTGGGAGGAGGCTGAGTT 0.552 8 114 --- --- --- --- PASS ADAMTS10 81794 broad.mit.edu 37 19 8670048 8670048 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:8670048G>T uc002mkj.1 - 4 558 c.284C>A c.(283-285)TCC>TAC p.S95Y ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 95 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 CAGTAGACGGGAGCTGCGGGT 0.706 18 22 --- --- --- --- PASS OR1M1 125963 broad.mit.edu 37 19 9204718 9204718 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:9204718C>T uc010xkj.1 + 1 798 c.798C>T c.(796-798)CTC>CTT p.L266L NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 CCTCGGTCCTCACCACTGTGA 0.547 26 299 --- --- --- --- PASS OR7D4 125958 broad.mit.edu 37 19 9325149 9325149 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:9325149C>T uc002mla.1 - 1 365 c.365G>A c.(364-366)CGG>CAG p.R122Q NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGCCACAAACCGGTCATAGGC 0.502 5 131 --- --- --- --- PASS RAVER1 125950 broad.mit.edu 37 19 10432272 10432272 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:10432272G>C uc002moa.2 - 7 1327 c.1247C>G c.(1246-1248)TCA>TGA p.S416* NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 399 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCCCAGGGGTGAGTCTCCCAG 0.687 5 33 --- --- --- --- PASS RAVER1 125950 broad.mit.edu 37 19 10439679 10439679 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:10439679G>T uc002moa.2 - 3 526 c.446C>A c.(445-447)GCC>GAC p.A149D NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 132 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) ACACAGCAGGGCATCCGTGGG 0.662 4 14 --- --- --- --- PASS DNM2 1785 broad.mit.edu 37 19 10912999 10912999 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:10912999C>G uc002mps.1 + 12 1622 c.1458C>G c.(1456-1458)ATC>ATG p.I486M DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I486M|DNM2_uc002mpv.1_Missense_Mutation_p.I486M|DNM2_uc002mpu.1_Missense_Mutation_p.I486M|DNM2_uc010dxl.1_Missense_Mutation_p.I486M|DNM2_uc002mpw.2_Missense_Mutation_p.I219M NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 486 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGTCCTACATCAACACGAACC 0.562 8 114 --- --- --- --- PASS DNM2 1785 broad.mit.edu 37 19 10913020 10913020 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:10913020C>T uc002mps.1 + 12 1643 c.1479C>T c.(1477-1479)TTC>TTT p.F493F DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.F493F|DNM2_uc002mpv.1_Silent_p.F493F|DNM2_uc002mpu.1_Silent_p.F493F|DNM2_uc010dxl.1_Silent_p.F493F|DNM2_uc002mpw.2_Silent_p.F226F NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 493 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ATGAGGACTTCATCGGGTTTG 0.537 8 112 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11338084 11338084 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:11338084C>A uc002mqs.3 - 24 2925 c.2884G>T c.(2884-2886)GGA>TGA p.G962* DOCK6_uc010xlq.1_Nonsense_Mutation_p.G301* NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 962 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AGGAAGCGTCCGGGGAAGCGC 0.517 26 33 --- --- --- --- PASS ZNF440 126070 broad.mit.edu 37 19 11943147 11943147 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:11943147C>G uc002msp.1 + 4 1312 c.1156C>G c.(1156-1158)CAT>GAT p.H386D NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 386 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTTCGATATCATGAAAGGAC 0.438 8 131 --- --- --- --- PASS ZNF799 90576 broad.mit.edu 37 19 12502916 12502916 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:12502916C>G uc010dyt.2 - 4 446 c.296G>C c.(295-297)GGA>GCA p.G99A ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TGGACCTACTCCAGGAAGAGT 0.413 73 112 --- --- --- --- PASS TRMT1 55621 broad.mit.edu 37 19 13216201 13216201 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:13216201C>A uc002mwj.2 - 15 1963 c.1713G>T c.(1711-1713)GCG>GCT p.A571A LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Silent_p.A175A|TRMT1_uc002mwk.2_Silent_p.A542A|TRMT1_uc002mwl.3_Silent_p.A571A|TRMT1_uc010xmz.1_3'UTR NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 571 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CTTCGTCGGCCGCCTTGCCCC 0.642 10 186 --- --- --- --- PASS OR7C2 26658 broad.mit.edu 37 19 15053102 15053102 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:15053102A>G uc010xoc.1 + 1 802 c.802A>G c.(802-804)AGG>GGG p.R268G NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) ACCACCTTCTAGGACAAGTCT 0.542 86 139 --- --- --- --- PASS SYDE1 85360 broad.mit.edu 37 19 15224645 15224645 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:15224645G>A uc002nah.1 + 8 2110 c.2079G>A c.(2077-2079)CCG>CCA p.P693P SYDE1_uc002nai.1_Silent_p.P626P|SYDE1_uc002naj.1_Silent_p.P350P NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 693 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 TCGGCGAGCCGAGGGTCACCG 0.627 16 169 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15298024 15298024 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:15298024G>C uc002nan.2 - 11 1808 c.1732C>G c.(1732-1734)CGC>GGC p.R578G NOTCH3_uc002nao.1_Missense_Mutation_p.R578G NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 578 Extracellular (Potential).|EGF-like 14; calcium-binding (Potential). R -> C (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CTCTCGCAGCGTGTGCCCGTG 0.647 18 45 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15537819 15537819 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:15537819C>A uc002nbc.2 - 4 1600 c.1577G>T c.(1576-1578)CGG>CTG p.R526L WIZ_uc002nba.3_Missense_Mutation_p.R393L|WIZ_uc002nbb.3_Missense_Mutation_p.R352L NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1209 nucleus zinc ion binding 0 CATGTCTTCCCGTGGTGCCCC 0.617 7 167 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16918790 16918790 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:16918790C>A uc002neu.3 + 18 4552 c.4130C>A c.(4129-4131)GCA>GAA p.A1377E NWD1_uc002net.3_Missense_Mutation_p.A1242E|NWD1_uc002nev.3_Missense_Mutation_p.A1171E Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1377 ATP binding skin(3)|ovary(2)|pancreas(2) 7 TACGAGTGTGCAACTTCCAAA 0.587 38 299 --- --- --- --- PASS USHBP1 83878 broad.mit.edu 37 19 17370132 17370132 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:17370132C>T uc002nfs.1 - 7 1125 c.1012G>A c.(1012-1014)GAG>AAG p.E338K USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E274K|USHBP1_uc010eam.1_Missense_Mutation_p.E266K NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 338 PDZ domain binding ovary(1) 1 GCTGTGGCCTCAGCCTCCCGC 0.577 4 71 --- --- --- --- PASS BST2 684 broad.mit.edu 37 19 17516377 17516377 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:17516377G>C uc002ngl.2 - 1 17 c.8C>G c.(7-9)TCT>TGT p.S3C uc010eat.1_5'Flank|uc002ngm.1_5'Flank NM_004335 NP_004326 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 precursor 3 Cytoplasmic (Potential). B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome protein homodimerization activity|signal transducer activity ovary(3) 3 ATACGAAGTAGATGCCATCCA 0.512 11 164 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17735674 17735674 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:17735674C>G uc002nhd.2 - 35 4425 c.4425G>C c.(4423-4425)GAG>GAC p.E1475D NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1387 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CGATGGTTTTCTCCATGGTGT 0.587 11 66 --- --- --- --- PASS SLC5A5 6528 broad.mit.edu 37 19 17986877 17986877 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:17986877C>G uc002nhr.3 + 5 1007 c.660C>G c.(658-660)CTC>CTG p.L220L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 220 Extracellular (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GCCAGGTGCTCACGCTGGCCC 0.557 72 97 --- --- --- --- PASS SLC5A5 6528 broad.mit.edu 37 19 17992823 17992823 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:17992823C>G uc002nhr.3 + 9 1460 c.1113C>G c.(1111-1113)ATC>ATG p.I371M NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 371 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 AAGACCTCATCAAACCTCGGC 0.592 6 90 --- --- --- --- PASS ELL 8178 broad.mit.edu 37 19 18561345 18561345 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:18561345C>G uc002njh.2 - 8 1479 c.1407G>C c.(1405-1407)CAG>CAC p.Q469H ELL_uc010ebq.2_Missense_Mutation_p.Q412H|ELL_uc002njg.2_Missense_Mutation_p.Q336H NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 469 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) AGTCTGGAAGCTGGGCCCGGG 0.667 T MLL AL 4 71 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19141784 19141784 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:19141784C>T uc002nkx.2 - 2 243 c.97G>A c.(97-99)GAA>AAA p.E33K SFRS14_uc002nkz.1_Missense_Mutation_p.E47K|SFRS14_uc002nla.1_Missense_Mutation_p.E33K|SFRS14_uc002nlb.2_Missense_Mutation_p.E33K|SFRS14_uc010xqk.1_5'UTR|ARMC6_uc002nlc.2_5'Flank|ARMC6_uc002nld.2_5'Flank|ARMC6_uc010xql.1_5'Flank|ARMC6_uc002nle.2_5'Flank NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 33 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) TGAAGAGTTTCGCTTACAGCC 0.408 30 503 --- --- --- --- PASS NDUFA13 51079 broad.mit.edu 37 19 19636994 19636994 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:19636994A>G uc010xqy.1 + 2 606 c.347A>G c.(346-348)TAC>TGC p.Y116C NDUFA13_uc002nms.2_Missense_Mutation_p.Y116C|NDUFA13_uc010xqx.1_Missense_Mutation_p.Y116C|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 33 Helical; (Potential). apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) TTCACAGGCTACAGCATGCTG 0.637 18 21 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19654817 19654817 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:19654817T>A uc002nmv.3 + 8 1548 c.1463T>A c.(1462-1464)CTA>CAA p.L488Q CILP2_uc002nmw.3_Missense_Mutation_p.L494Q NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 488 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GGGGAGCCGCTACGCTTCGCC 0.677 10 13 --- --- --- --- PASS ZNF253 56242 broad.mit.edu 37 19 20002737 20002737 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:20002737C>G uc002noj.2 + 4 773 c.681C>G c.(679-681)CCC>CCG p.P227P ZNF253_uc002nok.2_Silent_p.P151P|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 227 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCCTACAGATGTG 0.383 10 105 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544021 23544021 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:23544021G>C uc002nre.2 - 4 1873 c.1760C>G c.(1759-1761)TCA>TGA p.S587* ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Nonsense_Mutation_p.S555* NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 587 C2H2-type 16. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGAAAGACTTGAGGAATGATT 0.353 10 169 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544679 23544679 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:23544679G>C uc002nre.2 - 4 1215 c.1102C>G c.(1102-1104)CAT>GAT p.H368D ZNF91_uc010xrj.1_Missense_Mutation_p.H336D NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 368 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GTTATCTTATGATTAGCAAGG 0.348 79 133 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24289358 24289358 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:24289358G>C uc002nru.2 + 3 300 c.166G>C c.(166-168)GTC>CTC p.V56L ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 56 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGGTATTGCTGTCTCTAAGCC 0.398 61 126 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33695573 33695573 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:33695573A>T uc010edh.2 + 4 383 c.290A>T c.(289-291)CAC>CTC p.H97L LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 97 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) GAGGAGTCCCACCAGTGCTCC 0.672 98 102 --- --- --- --- PASS FFAR3 2865 broad.mit.edu 37 19 35849879 35849879 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:35849879C>G uc002nzd.2 + 2 162 c.87C>G c.(85-87)CTC>CTG p.L29L FFAR3_uc010xsu.1_RNA NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 29 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGGGCTCCCCCTCAACC 0.647 7 198 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36342189 36342189 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:36342189A>G uc002oby.2 - 3 372 c.372T>C c.(370-372)TCT>TCC p.S124S NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 124 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACTCTGGGAGACACGAGCT 0.622 5 78 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36348353 36348353 + Nonsense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:36348353G>A uc002ocb.3 + 2 380 c.168G>A c.(166-168)TGG>TGA p.W56* KIRREL2_uc002obz.3_Nonsense_Mutation_p.W56*|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Intron|KIRREL2_uc002ocd.3_Nonsense_Mutation_p.W53* NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 56 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TAGTTCAGTGGACTAAGAGTG 0.652 8 207 --- --- --- --- PASS ZNF345 25850 broad.mit.edu 37 19 37369115 37369115 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:37369115G>A uc002oex.2 + 3 1761 c.1383G>A c.(1381-1383)AAG>AAA p.K461K ZNF345_uc002oey.3_Silent_p.K461K|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 461 C2H2-type 15. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGTGGGAAGGCTTATGGGA 0.388 79 334 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37879981 37879981 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:37879981C>G uc010efk.1 + 5 1141 c.1030C>G c.(1030-1032)CAC>GAC p.H344D ZNF527_uc002ogf.3_Missense_Mutation_p.H312D|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 344 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACAGAGTGCTCACCTTGCTCA 0.438 9 267 --- --- --- --- PASS ZNF781 163115 broad.mit.edu 37 19 38160578 38160578 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:38160578G>C uc002ogy.2 - 4 1214 c.472C>G c.(472-474)CAA>GAA p.Q158E ZNF781_uc002ogz.2_Missense_Mutation_p.Q153E NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATAAGAGTTGAGCGATTGTT 0.388 78 407 --- --- --- --- PASS FAM98C 147965 broad.mit.edu 37 19 38896018 38896018 + Missense_Mutation SNP C G G rs139841886 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:38896018C>G uc002oin.1 + 5 609 c.590C>G c.(589-591)TCC>TGC p.S197C FAM98C_uc002oio.1_Intron|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 197 p.S197F(1) skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCCCAGGGTCCCTGCAGCCC 0.582 34 141 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38980838 38980838 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:38980838C>T uc002oit.2 + 36 6067 c.5937C>T c.(5935-5937)CTC>CTT p.L1979L RYR1_uc002oiu.2_Silent_p.L1979L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1979 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTATGGCCTCCTCATAAAAG 0.617 19 58 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39055641 39055641 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:39055641G>A uc002oit.2 + 91 12797 c.12667G>A c.(12667-12669)GAG>AAG p.E4223K RYR1_uc002oiu.2_Missense_Mutation_p.E4218K|RYR1_uc002oiv.1_Missense_Mutation_p.E1132K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4223 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGTGGTGAACGAGGGCGGCGA 0.637 4 6 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39086131 39086131 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:39086131C>T uc002oix.1 - 29 2442 c.2334G>A c.(2332-2334)TCG>TCA p.S778S MAP4K1_uc002oiw.1_Silent_p.S365S|MAP4K1_uc002oiy.1_Silent_p.S778S NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 778 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTACCTGATCCGAGCCTAGAG 0.567 6 97 --- --- --- --- PASS FBXO27 126433 broad.mit.edu 37 19 39521733 39521733 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:39521733C>T uc002okh.2 - 4 590 c.508G>A c.(508-510)GAG>AAG p.E170K NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 170 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCCTCCTCCTCTAGGTCCAAG 0.522 191 204 --- --- --- --- PASS PLEKHG2 64857 broad.mit.edu 37 19 39914967 39914967 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:39914967A>T uc010xuz.1 + 19 3519 c.3194A>T c.(3193-3195)CAG>CTG p.Q1065L PLEKHG2_uc010xuy.1_Missense_Mutation_p.Q1006L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.Q843L NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1065 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGGATGTTCAGGGCCCAGAC 0.587 51 296 --- --- --- --- PASS DYRK1B 9149 broad.mit.edu 37 19 40316475 40316475 + Silent SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:40316475T>A uc002omj.2 - 11 2050 c.1770A>T c.(1768-1770)TCA>TCT p.S590S DYRK1B_uc002omi.2_Silent_p.S562S|DYRK1B_uc002omk.2_Silent_p.S550S NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 590 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TCCGGAGGGCTGAGGCAGCCG 0.706 8 24 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41120352 41120352 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:41120352G>A uc002ooh.1 + 22 3013 c.3013G>A c.(3013-3015)GAT>AAT p.D1005N LTBP4_uc002oog.1_Missense_Mutation_p.D968N|LTBP4_uc002ooi.1_Missense_Mutation_p.D938N|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.D225N|LTBP4_uc002ool.1_Missense_Mutation_p.D103N|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1005 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCTGTGACGGTGAGCCTGC 0.697 3 16 --- --- --- --- PASS CNFN 84518 broad.mit.edu 37 19 42891373 42891373 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:42891373C>A uc002otp.3 - 4 326 c.271G>T c.(271-273)GCG>TCG p.A91S CNFN_uc002otq.3_Missense_Mutation_p.A104S NM_032488 NP_115877 Q9BYD5 CNFN_HUMAN cornifelin 91 keratinization cornified envelope|cytoplasm 0 Prostate(69;0.00899) GTGAGGGCCGCCCAGTCGTGC 0.667 10 39 --- --- --- --- PASS CEACAM8 1088 broad.mit.edu 37 19 43098952 43098952 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:43098952C>A uc002oud.2 - 1 131 c.29G>T c.(28-30)AGA>ATA p.R10I uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 10 immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GATGCGCCATCTGCAGGAAGG 0.607 26 210 --- --- --- --- PASS PSG1 5669 broad.mit.edu 37 19 43372279 43372279 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:43372279G>T uc002ovb.2 - 5 1355 c.1217C>A c.(1216-1218)TCC>TAC p.S406Y PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.S406Y|PSG1_uc010eio.1_Missense_Mutation_p.S406Y|PSG1_uc002oux.1_Missense_Mutation_p.S335Y|PSG1_uc002ouy.1_Missense_Mutation_p.S313Y|PSG1_uc002ouz.1_Missense_Mutation_p.S406Y|PSG1_uc002ova.1_Missense_Mutation_p.S313Y|PSG1_uc002ovc.2_Missense_Mutation_p.S313Y|PSG1_uc002ovd.1_Missense_Mutation_p.S406Y NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 406 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) CATGGATTTGGAGCTTTCCTT 0.473 74 367 --- --- --- --- PASS PSG5 5673 broad.mit.edu 37 19 43674284 43674284 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:43674284G>A uc002ovu.2 - 5 1102 c.971C>T c.(970-972)TCA>TTA p.S324L PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S199L|PSG5_uc002ovx.2_Missense_Mutation_p.S324L|PSG5_uc002ovv.2_Missense_Mutation_p.S417L|PSG5_uc002ovw.2_Missense_Mutation_p.S146L NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 324 female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TCCTATTCCTGAAGGAGCTGT 0.428 29 144 --- --- --- --- PASS ZNF221 7638 broad.mit.edu 37 19 44471455 44471455 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44471455G>A uc002oxx.2 + 6 2129 c.1801G>A c.(1801-1803)GAA>AAA p.E601K ZNF221_uc010ejb.1_Missense_Mutation_p.E601K|ZNF221_uc010xws.1_Missense_Mutation_p.E601K NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) GATCTACTCAGAATTCACAGC 0.443 42 139 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44514653 44514653 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44514653C>G uc002oyb.1 + 5 713 c.462C>G c.(460-462)ATC>ATG p.I154M NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 154 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) ATGTTGCCATCTTTGATCCTC 0.448 36 251 --- --- --- --- PASS ZNF234 10780 broad.mit.edu 37 19 44661248 44661248 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44661248A>G uc002oym.2 + 6 1386 c.1079A>G c.(1078-1080)CAG>CGG p.Q360R ZNF234_uc002oyl.3_Missense_Mutation_p.Q360R NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 360 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) TCACAATTTCAGGCCCATCGG 0.443 3 82 --- --- --- --- PASS ZNF226 7769 broad.mit.edu 37 19 44680253 44680253 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44680253C>T uc002oyp.2 + 6 982 c.838C>T c.(838-840)CTT>TTT p.L280F ZNF226_uc002oyq.2_Missense_Mutation_p.L163F|ZNF226_uc002oyr.2_Missense_Mutation_p.L163F|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.L280F|ZNF226_uc002oyt.2_Missense_Mutation_p.L280F NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 280 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGAGAAGTCTCTTACATGTGT 0.428 12 92 --- --- --- --- PASS ZNF227 7770 broad.mit.edu 37 19 44738912 44738912 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44738912C>G uc002oyu.2 + 6 534 c.329C>G c.(328-330)TCA>TGA p.S110* ZNF227_uc010xwu.1_Nonsense_Mutation_p.S59*|ZNF227_uc002oyv.2_Nonsense_Mutation_p.S110*|ZNF227_uc010xwv.1_Nonsense_Mutation_p.S59*|ZNF227_uc010xww.1_Nonsense_Mutation_p.S31*|ZNF227_uc002oyw.2_Nonsense_Mutation_p.S82*|ZNF227_uc010ejh.2_Nonsense_Mutation_p.S103*|ZNF235_uc002oyx.1_RNA NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) AAATACCTTTCAAATCAAGAG 0.383 38 124 --- --- --- --- PASS ZNF285 26974 broad.mit.edu 37 19 44891432 44891432 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:44891432G>C uc002ozd.3 - 4 1062 c.975C>G c.(973-975)TTC>TTG p.F325L ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.F332L NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 325 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 AGCTGCGCCTGAAGCCCTTGC 0.493 34 249 --- --- --- --- PASS CEACAM20 125931 broad.mit.edu 37 19 45024764 45024764 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:45024764G>A uc010ejn.1 - 5 790 c.774C>T c.(772-774)GTC>GTT p.V258V CEACAM20_uc010ejo.1_Silent_p.V258V|CEACAM20_uc010ejp.1_Silent_p.V258V|CEACAM20_uc010ejq.1_Silent_p.V258V NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 258 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane large_intestine(2) 2 Prostate(69;0.0352) TTGAAGGCACGACTTGAGGCA 0.522 62 96 --- --- --- --- PASS ERCC2 2068 broad.mit.edu 37 19 45856557 45856557 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:45856557G>C uc002pbj.2 - 18 1748 c.1701C>G c.(1699-1701)CTC>CTG p.L567L ERCC2_uc002pbh.2_Silent_p.L130L|ERCC2_uc002pbi.2_Silent_p.L260L|ERCC2_uc010ejz.2_Silent_p.L489L|ERCC2_uc002pbk.2_Silent_p.L543L NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 567 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TCTCAATAAAGAGCAGCTTGT 0.607 Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 5 52 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46355782 46355782 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:46355782C>G uc002pdn.2 - 4 428 c.183G>C c.(181-183)CTG>CTC p.L61L SYMPK_uc002pdo.1_Silent_p.L61L|SYMPK_uc002pdp.1_Silent_p.L61L|SYMPK_uc002pdq.1_Silent_p.L61L NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 61 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TGTTGATGATCAGCTCCTGGA 0.453 3 110 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47423195 47423195 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:47423195G>A uc010ekv.2 + 1 1263 c.1263G>A c.(1261-1263)GAG>GAA p.E421E NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 421 FF 2. 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) CCCACTTAGAGAAGCTGAGGA 0.483 48 112 --- --- --- --- PASS KPTN 11133 broad.mit.edu 37 19 47986776 47986776 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:47986776C>T uc002pgy.2 - 2 396 c.292G>A c.(292-294)GGG>AGG p.G98R KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 98 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) AACGTGATCCCCACAACCAGA 0.582 OREG0025593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- PASS CCDC114 93233 broad.mit.edu 37 19 48801295 48801295 + Silent SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:48801295A>G uc002pir.2 - 12 2036 c.1353T>C c.(1351-1353)CTT>CTC p.L451L CCDC114_uc002piq.2_Silent_p.L260L|CCDC114_uc002pio.2_Silent_p.L488L|CCDC114_uc002pis.1_Silent_p.L131L NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 451 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TCTTCTTCGGAAGGTCCTCCA 0.682 12 56 --- --- --- --- PASS SPHK2 56848 broad.mit.edu 37 19 49131269 49131269 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:49131269G>C uc002pjr.2 + 5 1065 c.699G>C c.(697-699)CTG>CTC p.L233L SPHK2_uc010xzt.1_Silent_p.L174L|SPHK2_uc002pjs.2_Silent_p.L233L|SPHK2_uc002pjt.2_Silent_p.L27L|SPHK2_uc002pju.2_Silent_p.L197L|SPHK2_uc002pjv.2_Silent_p.L197L|SPHK2_uc002pjw.2_Silent_p.L295L|SPHK2_uc010xzu.1_Silent_p.L197L NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 233 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCCAGGGGCTGAGCCTGAGTG 0.662 6 100 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50796543 50796543 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:50796543G>C uc002prr.1 + 36 5234 c.5187G>C c.(5185-5187)GAG>GAC p.E1729D MYH14_uc010enu.1_Missense_Mutation_p.E1770D|MYH14_uc002prq.1_Missense_Mutation_p.E1737D|MYH14_uc010ycb.1_Missense_Mutation_p.E80D|MYH14_uc002prs.1_Missense_Mutation_p.E80D NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1729 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) ACCGGGATGAGATGGCAGATG 0.617 3 13 --- --- --- --- PASS C19orf48 84798 broad.mit.edu 37 19 51301373 51301373 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:51301373C>T uc002ptf.2 - 5 1255 c.333G>A c.(331-333)CTG>CTA p.L111L C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Silent_p.L111L NM_199249 NP_954857 Q6RUI8 CS048_HUMAN multidrug resistance-related protein 111 ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145) GCAGCTCCCCCAGGATTCTGG 0.627 57 224 --- --- --- --- PASS ZNF577 84765 broad.mit.edu 37 19 52376400 52376400 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:52376400C>T uc010yde.1 - 7 1234 c.843G>A c.(841-843)CAG>CAA p.Q281Q ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.Q222Q|ZNF577_uc002pxv.2_Silent_p.Q274Q|ZNF577_uc002pxw.2_Silent_p.Q215Q NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 281 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGTATGCCTTCTGAGAAAAGG 0.468 20 95 --- --- --- --- PASS ZNF137 7696 broad.mit.edu 37 19 53100135 53100135 + RNA SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:53100135T>A uc002pzt.2 + 1 c.199T>A NR_023311 Homo sapiens zinc finger protein 137, mRNA (cDNA clone IMAGE:40016639). 0 GBM - Glioblastoma multiforme(134;0.0212)|OV - Ovarian serous cystadenocarcinoma(262;0.0221) AATCAAACCTTGCACAACATC 0.383 7 37 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53911436 53911436 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:53911436A>G uc010ydx.1 + 6 955 c.628A>G c.(628-630)ATG>GTG p.M210V ZNF765_uc002qbm.2_Missense_Mutation_p.M210V|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) GGAAGTACATATGAGGGAAAA 0.348 5 97 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53911925 53911925 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:53911925C>A uc010ydx.1 + 6 1444 c.1117C>A c.(1117-1119)CAT>AAT p.H373N ZNF765_uc002qbm.2_Missense_Mutation_p.H373N|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 373 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TTTTACATGCCATCATAGAGT 0.413 48 191 --- --- --- --- PASS MIR519A1 574496 broad.mit.edu 37 19 54255684 54255684 + RNA SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:54255684C>T hsa-mir-519a-1|MI0003178 + c.34C>T MIR527_hsa-mir-527|MI0003179_5'Flank 0 GAAGCGCTTTCTGTTGTCTGA 0.418 34 157 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54744149 54744149 + Splice_Site SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:54744149C>A uc002qeu.1 - 6 1382 c.1258_splice c.e6+1 p.G420_splice LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Splice_Site_p.G420_splice|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Splice_Site_p.G420_splice|LILRA6_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Splice_Site_p.G420_splice|LILRA6_uc010yeq.1_Splice_Site_p.G420_splice|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qev.1_Splice_Site_p.A281_splice NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCGCCCTCACCTGAGACCAT 0.652 3 81 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55399578 55399578 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:55399578G>A uc002qhr.1 + 4 763 c.566G>A c.(565-567)GGG>GAG p.G189E FCAR_uc002qhq.2_Missense_Mutation_p.G189E|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.G162E|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.G189E|FCAR_uc002qhw.1_Missense_Mutation_p.G177E|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.G177E|FCAR_uc002qhz.1_Missense_Mutation_p.G177E|FCAR_uc002qia.1_Missense_Mutation_p.G80E NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 189 Ig-like C2-type 2.|Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) AATGTCTCAGGGATCTACAGG 0.557 10 45 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55424101 55424101 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:55424101G>A uc002qib.2 + 7 815 c.777G>A c.(775-777)ATG>ATA p.M259I NCR1_uc002qic.2_Missense_Mutation_p.M258I|NCR1_uc002qie.2_Missense_Mutation_p.M242I|NCR1_uc002qid.2_Missense_Mutation_p.M164I|NCR1_uc002qif.2_Missense_Mutation_p.M147I|NCR1_uc010esj.2_Missense_Mutation_p.M152I NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 259 Helical; (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TCCTTCGGATGGGCCTGGCCT 0.552 12 106 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55447743 55447743 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:55447743C>A uc002qih.3 - 6 2262 c.2186G>T c.(2185-2187)GGG>GTG p.G729V NLRP7_uc002qig.3_Missense_Mutation_p.G701V|NLRP7_uc002qii.3_Missense_Mutation_p.G729V|NLRP7_uc010esk.2_Missense_Mutation_p.G729V|NLRP7_uc010esl.2_Missense_Mutation_p.G757V NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 729 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GGTCTTCTTCCCAATGAAAGC 0.502 14 49 --- --- --- --- PASS C19orf51 352909 broad.mit.edu 37 19 55670794 55670794 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:55670794T>A uc002qji.1 - 12 1296 c.1262A>T c.(1261-1263)GAG>GTG p.E421V TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.E236V|C19orf51_uc002qjj.1_Missense_Mutation_p.E468V|C19orf51_uc002qjk.1_Missense_Mutation_p.E367V|C19orf51_uc002qjl.1_Missense_Mutation_p.E488V Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 421 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTGCAGCTGCTCCTGCCGCAC 0.627 27 96 --- --- --- --- PASS SBK2 646643 broad.mit.edu 37 19 56047654 56047654 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:56047654C>G uc010ygc.1 - 1 8 c.8G>C c.(7-9)GGC>GCC p.G3A NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 3 ATP binding|protein serine/threonine kinase activity 0 AGACTGTTTGCCGGGCATCTC 0.478 7 29 --- --- --- --- PASS EPN1 29924 broad.mit.edu 37 19 56206529 56206529 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:56206529G>T uc002qlw.2 + 11 1880 c.1538G>T c.(1537-1539)GGC>GTC p.G513V EPN1_uc002qlv.2_Missense_Mutation_p.G487V|EPN1_uc010etd.2_Missense_Mutation_p.G512V|EPN1_uc002qlx.2_Missense_Mutation_p.G599V NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 513 Ala/Gly/Pro-rich.|3 X 3 AA repeats of N-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCAGCCACTGGCCCTTCCGTC 0.667 4 23 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423149 56423149 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:56423149T>C uc010ygg.1 - 5 2059 c.2034A>G c.(2032-2034)CTA>CTG p.L678L NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 678 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TACAGTGCTTTAGGCAAAATG 0.393 55 193 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57089033 57089033 + Silent SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:57089033T>A uc002qnl.3 + 6 1912 c.1236T>A c.(1234-1236)CTT>CTA p.L412L ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 412 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ACATAGGACTTATTCAGCATA 0.413 23 105 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57089034 57089034 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:57089034A>T uc002qnl.3 + 6 1913 c.1237A>T c.(1237-1239)ATT>TTT p.I413F ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 413 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CATAGGACTTATTCAGCATAA 0.413 23 102 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57909923 57909923 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:57909923G>C uc002qom.2 + 3 518 c.268G>C c.(268-270)GGC>CGC p.G90R ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.G93R NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAGACATGTGGCCCACCCTT 0.488 12 124 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58187739 58187739 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:58187739G>A uc002qpu.2 + 3 923 c.226G>A c.(226-228)GAA>AAA p.E76K NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 76 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCTGCAACCAGAAAAGCACAG 0.398 7 137 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58579503 58579503 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:58579503G>T uc010yhq.1 + 5 1783 c.1687G>T c.(1687-1689)GAA>TAA p.E563* ZNF135_uc002qre.2_Nonsense_Mutation_p.E551*|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Nonsense_Mutation_p.E509*|ZNF135_uc002qrg.2_Nonsense_Mutation_p.E521*|ZNF135_uc010yhr.1_Nonsense_Mutation_p.E372* NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 563 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAAACCCTATGAATGTAACCA 0.537 19 84 --- --- --- --- PASS ZNF274 10782 broad.mit.edu 37 19 58718552 58718552 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:58718552G>C uc002qrq.1 + 7 1182 c.723G>C c.(721-723)TGG>TGC p.W241C ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.W209C|ZNF274_uc002qrs.1_Missense_Mutation_p.W136C|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 241 SCAN box. 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) GTGTGACCTGGATGTCTGAGG 0.562 5 22 --- --- --- --- PASS CSNK2A1 1457 broad.mit.edu 37 20 470443 470443 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:470443C>G uc002wdw.1 - 10 1097 c.704G>C c.(703-705)GGA>GCA p.G235A CSNK2A1_uc002wdx.1_Missense_Mutation_p.G235A|CSNK2A1_uc002wdy.1_Missense_Mutation_p.G99A NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 235 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATTGTCATGTCCATGGAAAAA 0.383 4 129 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1281296 1281296 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:1281296G>C uc002wes.2 + 5 485 c.249G>C c.(247-249)GAG>GAC p.E83D SNPH_uc002wet.2_Missense_Mutation_p.E127D NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 83 Potential. synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 AGCAGAAGGAGGTGTGCATCC 0.657 4 68 --- --- --- --- PASS TGM3 7053 broad.mit.edu 37 20 2290881 2290881 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:2290881G>A uc002wfx.3 + 3 336 c.239G>A c.(238-240)AGT>AAT p.S80N NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 80 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) TCCAATGGCAGTAGTGGTGGC 0.542 69 139 --- --- --- --- PASS ProSAPiP1 9762 broad.mit.edu 37 20 3146652 3146652 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:3146652C>A uc002wia.1 - 2 2212 c.814G>T c.(814-816)GAC>TAC p.D272Y ProSAPiP1_uc002wib.1_Missense_Mutation_p.D272Y NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 272 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 GTCCCCAGGTCCTGGTAGCCC 0.672 7 60 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5294721 5294721 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:5294721C>T uc010zqw.1 - 1 295 c.295G>A c.(295-297)GAC>AAC p.D99N PROKR2_uc010zqx.1_Missense_Mutation_p.D99N|PROKR2_uc010zqy.1_Missense_Mutation_p.D99N|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 99 Helical; Name=2; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 ACCAGGAAGTCGGAGATGGCC 0.572 HNSCC(71;0.22) 31 84 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8678350 8678350 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:8678350G>C uc002wnb.2 + 11 1090 c.1087G>C c.(1087-1089)GAC>CAC p.D363H PLCB1_uc010zrb.1_Missense_Mutation_p.D262H|PLCB1_uc002wna.2_Missense_Mutation_p.D363H|PLCB1_uc002wnc.1_Missense_Mutation_p.D262H NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 363 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGTGGAGCTGGACTGCTGGAA 0.473 25 257 --- --- --- --- PASS SNAP25 6616 broad.mit.edu 37 20 10286827 10286827 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:10286827G>C uc002wnq.1 + 8 815 c.603G>C c.(601-603)AAG>AAC p.K201N SNAP25_uc002wnr.1_Missense_Mutation_p.K201N|SNAP25_uc002wns.1_Missense_Mutation_p.K138N|SNAP25_uc010gca.1_Missense_Mutation_p.K201N|SNAP25_uc010gcb.1_Missense_Mutation_p.K138N|SNAP25_uc010gcc.1_Missense_Mutation_p.K95N NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 201 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) GTGCAACAAAGATGCTGGGAA 0.453 17 57 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 14066369 14066369 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:14066369A>G uc002wou.2 + 3 530 c.266A>G c.(265-267)AAT>AGT p.N89S MACROD2_uc002wot.2_Missense_Mutation_p.N89S NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 89 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GCTATAGTCAATGCCGGTGAG 0.308 14 53 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21687476 21687476 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:21687476G>C uc002wsj.2 + 2 741 c.687G>C c.(685-687)GCG>GCC p.A229A PAX1_uc010zsl.1_Silent_p.A229A|PAX1_uc010zsm.1_Silent_p.A205A NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 229 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GCAGCCTGGCGCAGCCCGGAC 0.647 10 35 --- --- --- --- PASS NAPB 63908 broad.mit.edu 37 20 23361892 23361892 + Silent SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:23361892T>C uc002wta.2 - 8 741 c.624A>G c.(622-624)AAA>AAG p.K208K NAPB_uc002wtc.2_Silent_p.K114K|NAPB_uc002wtb.2_Silent_p.K212K|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Silent_p.K95K|NAPB_uc010zst.1_Silent_p.K169K NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 208 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) AGAGGGCAGCTTTGAAGAAGT 0.398 44 236 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24523908 24523908 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:24523908C>A uc002wtw.1 + 2 808 c.175C>A c.(175-177)CCG>ACG p.P59T NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 59 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CAGCACAGTGCCGGCCAGCCT 0.617 32 80 --- --- --- --- PASS PLAGL2 5326 broad.mit.edu 37 20 30784767 30784767 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:30784767G>C uc002wxn.2 - 3 1196 c.979C>G c.(979-981)CTG>GTG p.L327V NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 327 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGGATTCCAGAGGGTAGCTC 0.572 9 289 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31685537 31685537 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:31685537G>A uc010zue.1 + 11 1528 c.1513G>A c.(1513-1515)GAG>AAG p.E505K NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 505 cytoplasm|extracellular region lipid binding 0 GGCCACTGCCGAGGTCATGGT 0.582 11 120 --- --- --- --- PASS EIF2S2 8894 broad.mit.edu 37 20 32677584 32677584 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:32677584G>T uc002xaf.2 - 9 1123 c.954C>A c.(952-954)TTC>TTA p.F318L EIF2S2_uc002xag.2_Missense_Mutation_p.F315L|EIF2S2_uc010ges.2_Missense_Mutation_p.F258L NM_003908 NP_003899 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2 beta 318 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity large_intestine(1) 1 TGACAGCCTGGAAGCCGGTTT 0.488 18 122 --- --- --- --- PASS GGT7 2686 broad.mit.edu 37 20 33442668 33442668 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:33442668G>A uc002xay.2 - 9 1204 c.1161C>T c.(1159-1161)CTC>CTT p.L387L GGT7_uc002xaz.1_Silent_p.L404L NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 387 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CCAGGATGTTGAGAGCACTGA 0.592 4 86 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33591291 33591291 + Silent SNP G C C rs151041246 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:33591291G>C uc002xbk.2 - 18 2212 c.2178C>G c.(2176-2178)CTC>CTG p.L726L TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.L317L|TRPC4AP_uc002xbl.2_Silent_p.L718L|TRPC4AP_uc010zur.1_Silent_p.L687L NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 726 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GGAAGTTGTTGAGCAGGAAGC 0.612 14 68 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33595396 33595396 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:33595396G>A uc002xbk.2 - 14 1677 c.1643C>T c.(1642-1644)TCC>TTC p.S548F TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Missense_Mutation_p.S139F|TRPC4AP_uc002xbl.2_Missense_Mutation_p.S540F|TRPC4AP_uc010zur.1_Missense_Mutation_p.S509F|TRPC4AP_uc002xbm.1_3'UTR NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 548 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTCTGCATAGGAGGTGGTCCC 0.607 19 92 --- --- --- --- PASS SPAG4 6676 broad.mit.edu 37 20 34205126 34205126 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:34205126G>C uc002xdb.1 + 2 490 c.373G>C c.(373-375)GAG>CAG p.E125Q SPAG4_uc010zvi.1_Missense_Mutation_p.E48Q NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 125 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCTGAGGCAGGAGATGCCTCC 0.637 2 7 --- --- --- --- PASS EPB41L1 2036 broad.mit.edu 37 20 34773052 34773052 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:34773052C>T uc002xfb.2 + 7 751 c.580C>T c.(580-582)CTG>TTG p.L194L EPB41L1_uc002xeu.2_Silent_p.L132L|EPB41L1_uc010zvo.1_Silent_p.L194L|EPB41L1_uc002xev.2_Silent_p.L194L|EPB41L1_uc002xew.2_Silent_p.L97L|EPB41L1_uc002xex.2_Silent_p.L163L|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.L132L NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 194 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) CTACCTGTGCCTGCAGCTGCG 0.592 4 94 --- --- --- --- PASS ACTR5 79913 broad.mit.edu 37 20 37383748 37383748 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:37383748C>A uc002xjd.2 + 4 949 c.924C>A c.(922-924)CTC>CTA p.L308L NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 308 Potential. DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) TGCAGGAGCTCAATGCCCGGC 0.602 3 34 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40980734 40980734 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:40980734G>T uc002xkg.2 - 10 1936 c.1752C>A c.(1750-1752)ACC>ACA p.T584T PTPRT_uc010ggj.2_Silent_p.T584T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 584 Extracellular (Potential).|Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTGAAATTTTGGTGGCAATCC 0.468 48 76 --- --- --- --- PASS MATN4 8785 broad.mit.edu 37 20 43926926 43926926 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:43926926G>A uc002xnn.2 - 7 1497 c.1310C>T c.(1309-1311)TCC>TTC p.S437F MATN4_uc002xno.2_Missense_Mutation_p.S396F|MATN4_uc002xnp.2_Missense_Mutation_p.S355F|MATN4_uc010zwr.1_Missense_Mutation_p.S385F|MATN4_uc002xnr.1_Missense_Mutation_p.S437F NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 478 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CTGCGCCTCGGAGAAGCTGTG 0.667 11 60 --- --- --- --- PASS SLC13A3 64849 broad.mit.edu 37 20 45204214 45204214 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:45204214C>G uc002xsf.1 - 10 1368 c.1330G>C c.(1330-1332)GAG>CAG p.E444Q SLC13A3_uc010ghn.1_Missense_Mutation_p.E413Q|SLC13A3_uc010zxw.1_Missense_Mutation_p.E394Q|SLC13A3_uc002xsg.1_Missense_Mutation_p.E397Q|SLC13A3_uc010gho.1_Missense_Mutation_p.E362Q|SLC13A3_uc010zxx.1_Missense_Mutation_p.E346Q|SLC13A3_uc010zxv.1_Intron NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 444 Cytoplasmic (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGTCTTACCTCACAGCCTTTG 0.632 3 12 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47266640 47266640 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:47266640G>C uc002xtw.1 - 24 2945 c.2922C>G c.(2920-2922)ATC>ATG p.I974M PREX1_uc002xtv.1_Missense_Mutation_p.I271M NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 974 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCATGAGGTTGATGTGGCAAT 0.622 42 197 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51871800 51871800 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:51871800G>C uc002xwo.2 + 2 2759 c.1803G>C c.(1801-1803)AAG>AAC p.K601N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 601 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CTCAAGTCAAGAAAGAGTCAG 0.512 10 189 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51871975 51871975 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:51871975G>C uc002xwo.2 + 2 2934 c.1978G>C c.(1978-1980)GAG>CAG p.E660Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 660 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCTGATGAAAGAGGGCAGCGA 0.597 40 48 --- --- --- --- PASS CDH26 60437 broad.mit.edu 37 20 58571034 58571034 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:58571034G>A uc002ybe.2 + 12 2113 c.1813G>A c.(1813-1815)GAG>AAG p.E605K CDH26_uc002ybf.1_Missense_Mutation_p.E185K|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.E119K|CDH26_uc002ybh.2_5'Flank|CDH26_uc002ybi.2_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 605 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CACATGTGTGGAGCTTGCAGA 0.552 4 85 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61525358 61525358 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:61525358G>A uc002ydr.1 - 12 3025 c.2761C>T c.(2761-2763)CAT>TAT p.H921Y DIDO1_uc002yds.1_Missense_Mutation_p.H921Y|DIDO1_uc002ydt.1_Missense_Mutation_p.H921Y|DIDO1_uc002ydu.1_Missense_Mutation_p.H921Y NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 921 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) ACATTTGGATGAGAAGCACTT 0.607 5 130 --- --- --- --- PASS BIRC7 79444 broad.mit.edu 37 20 61870880 61870880 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:61870880G>A uc002yej.2 + 6 993 c.820G>A c.(820-822)GAG>AAG p.E274K BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.E256K NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 274 RING-type. activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GGTCTGTGCTGAGTGTGCCCC 0.706 8 49 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62871199 62871199 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr20:62871199G>A uc002yii.2 + 22 3544 c.3180G>A c.(3178-3180)CTG>CTA p.L1060L MYT1_uc002yij.2_Silent_p.L719L|MYT1_uc002yik.2_Silent_p.L26L NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1060 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TTCTGGAGCTGTCCGGCCTGA 0.587 11 191 --- --- --- --- PASS RBM11 54033 broad.mit.edu 37 21 15599481 15599481 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:15599481A>G uc002yjo.3 + 5 755 c.713A>G c.(712-714)GAC>GGC p.D238G RBM11_uc002yjn.3_Missense_Mutation_p.D124G|RBM11_uc002yjp.3_Missense_Mutation_p.D124G NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 238 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CAACCAAGTGACTCTGACCTT 0.428 80 335 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19651328 19651328 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:19651328G>T uc002ykw.2 - 23 2748 c.2717C>A c.(2716-2718)CCA>CAA p.P906Q NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 906 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 ATTTCTTCCTGGAGGAAAAAC 0.323 8 88 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22849633 22849633 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:22849633C>G uc002yld.1 + 15 2167 c.1918C>G c.(1918-1920)CTA>GTA p.L640V NCAM2_uc011acb.1_Missense_Mutation_p.L498V NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 640 Fibronectin type-III 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGACCAATGGCTAGAGAAAAA 0.353 14 55 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22849675 22849675 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:22849675G>T uc002yld.1 + 15 2209 c.1960G>T c.(1960-1962)GAG>TAG p.E654* NCAM2_uc011acb.1_Nonsense_Mutation_p.E512* NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 654 Fibronectin type-III 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CATCATTTTGGAGCATCTCCA 0.388 14 84 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 31023509 31023509 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:31023509C>G uc002yno.1 - 6 1347 c.883G>C c.(883-885)GAG>CAG p.E295Q GRIK1_uc002ynn.2_Missense_Mutation_p.E295Q|GRIK1_uc011acs.1_Missense_Mutation_p.E295Q|GRIK1_uc011act.1_Missense_Mutation_p.E239Q|GRIK1_uc010glq.1_Missense_Mutation_p.E153Q|GRIK1_uc002ynr.2_Missense_Mutation_p.E295Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 295 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GACCACTTCTCAATGATGGAT 0.473 18 88 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32526612 32526612 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:32526612G>A uc002yow.1 - 18 3596 c.3124C>T c.(3124-3126)CGC>TGC p.R1042C TIAM1_uc011adk.1_Missense_Mutation_p.R1042C|TIAM1_uc011adl.1_Missense_Mutation_p.R982C NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1042 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATCACCTTGCGCAGCTTATCT 0.567 11 132 --- --- --- --- PASS C21orf45 54069 broad.mit.edu 37 21 33642731 33642731 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:33642731C>T uc002ypi.2 - 3 562 c.511G>A c.(511-513)GAA>AAA p.E171K C21orf45_uc011adn.1_Missense_Mutation_p.E171K NM_018944 NP_061817 Q9NYP9 MS18A_HUMAN chromosome 21 open reading frame 45 171 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm 0 TCAATGGCTTCAACACTGAGG 0.413 18 95 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37610966 37610966 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:37610966G>T uc002yvg.2 + 17 2922 c.2843G>T c.(2842-2844)AGT>ATT p.S948I DOPEY2_uc011aeb.1_Missense_Mutation_p.S897I NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 948 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 ATCCAAGGCAGTCGAGTAACA 0.493 21 53 --- --- --- --- PASS KCNJ15 3772 broad.mit.edu 37 21 39671705 39671705 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:39671705G>C uc002ywv.2 + 4 824 c.522G>C c.(520-522)CGG>CGC p.R174R KCNJ15_uc002yww.2_Silent_p.R174R|KCNJ15_uc002ywx.2_Silent_p.R174R NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 174 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CCAAAAAGCGGGCTGAGACCA 0.502 30 75 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40559097 40559097 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:40559097G>C uc002yxk.1 - 42 6957 c.6818C>G c.(6817-6819)TCT>TGT p.S2273C BRWD1_uc010goc.1_Missense_Mutation_p.S916C NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2273 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) AGCCGCAGCAGAAGCATTTCG 0.323 37 147 --- --- --- --- PASS IGSF5 150084 broad.mit.edu 37 21 41142978 41142978 + Nonsense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:41142978C>G uc002yyo.2 + 4 657 c.554C>G c.(553-555)TCA>TGA p.S185* NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 185 Ig-like V-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) GTCAGCCATTCAAGCTATTAT 0.537 16 95 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41385099 41385099 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:41385099G>T uc002yyq.1 - 33 6353 c.5901C>A c.(5899-5901)GCC>GCA p.A1967A DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1967 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGTGGCCACGGCCCCCGGCT 0.652 3 23 --- --- --- --- PASS PDE9A 5152 broad.mit.edu 37 21 44179162 44179162 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:44179162C>T uc002zbm.2 + 11 927 c.864C>T c.(862-864)TTC>TTT p.F288F PDE9A_uc002zbn.2_Silent_p.F161F|PDE9A_uc002zbo.2_Silent_p.F235F|PDE9A_uc002zbp.2_Silent_p.F81F|PDE9A_uc002zbq.2_Silent_p.F186F|PDE9A_uc002zbs.2_Silent_p.F81F|PDE9A_uc002zbr.2_Silent_p.F81F|PDE9A_uc002zbt.2_Silent_p.F160F|PDE9A_uc002zbu.2_Silent_p.F154F|PDE9A_uc002zbv.2_Silent_p.F128F|PDE9A_uc002zbw.2_Silent_p.F71F|PDE9A_uc002zbx.2_Silent_p.F228F|PDE9A_uc002zby.2_Silent_p.F71F|PDE9A_uc002zbz.2_Silent_p.F180F|PDE9A_uc002zca.2_Silent_p.F247F|PDE9A_uc002zcb.2_Silent_p.F262F|PDE9A_uc002zcc.2_Silent_p.F187F|PDE9A_uc002zcd.2_Silent_p.F202F|PDE9A_uc002zce.2_Silent_p.F221F|PDE9A_uc002zcf.2_Silent_p.F81F|PDE9A_uc002zcg.2_Silent_p.F81F|PDE9A_uc002zch.2_Silent_p.F71F|PDE9A_uc010gpf.1_Silent_p.F81F NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 288 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 TCAGGGACTTCAGCATCAACC 0.602 4 56 --- --- --- --- PASS PKNOX1 5316 broad.mit.edu 37 21 44448912 44448912 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:44448912C>G uc002zcq.1 + 10 1215 c.1027C>G c.(1027-1029)CAG>GAG p.Q343E PKNOX1_uc002zcp.1_Missense_Mutation_p.Q343E|PKNOX1_uc011aex.1_Missense_Mutation_p.Q226E NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 343 sequence-specific DNA binding large_intestine(2) 2 CCGGCCAGTTCAGAGGTTTTG 0.512 67 221 --- --- --- --- PASS PKNOX1 5316 broad.mit.edu 37 21 44450169 44450169 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:44450169C>G uc002zcq.1 + 11 1457 c.1269C>G c.(1267-1269)CAC>CAG p.H423Q PKNOX1_uc011aex.1_Missense_Mutation_p.H306Q NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 423 sequence-specific DNA binding large_intestine(2) 2 CCCCTGCCCACATCAGCGGGC 0.607 18 53 --- --- --- --- PASS CBS 875 broad.mit.edu 37 21 44483143 44483143 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:44483143C>T uc002zcu.2 - 10 1119 c.874G>A c.(874-876)GAG>AAG p.E292K CBS_uc002zcs.1_Missense_Mutation_p.E187K|CBS_uc002zct.2_Missense_Mutation_p.E292K|CBS_uc002zcw.3_Missense_Mutation_p.E292K|CBS_uc002zcv.2_Missense_Mutation_p.E292K|CBS_uc002zcx.2_5'Flank NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 292 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) TGGTTCAGCTCCTCCGGCTCT 0.632 34 123 --- --- --- --- PASS CBS 875 broad.mit.edu 37 21 44483170 44483170 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:44483170C>T uc002zcu.2 - 10 1092 c.847G>A c.(847-849)GAA>AAA p.E283K CBS_uc002zcs.1_Missense_Mutation_p.E178K|CBS_uc002zct.2_Missense_Mutation_p.E283K|CBS_uc002zcw.3_Missense_Mutation_p.E283K|CBS_uc002zcv.2_Missense_Mutation_p.E283K|CBS_uc002zcx.2_5'Flank NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 283 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) ATGGACCCTTCGGGATCCACC 0.607 33 106 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45811239 45811239 + Nonsense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:45811239C>T uc002zet.1 + 12 1738 c.1525C>T c.(1525-1527)CAG>TAG p.Q509* TRPM2_uc002zeu.1_Nonsense_Mutation_p.Q509*|TRPM2_uc002zew.1_Nonsense_Mutation_p.Q509*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.Q509*|TRPM2_uc002zex.1_Nonsense_Mutation_p.Q295*|TRPM2_uc002zey.1_Nonsense_Mutation_p.Q22* NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 509 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 GAACGGGGTGCAGCTGAAGGA 0.557 39 153 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999863 45999863 + Nonsense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:45999863G>T uc002zfl.1 - 1 619 c.593C>A c.(592-594)TCA>TAA p.S198* C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 198 22 X 5 AA repeats of C-C-X(3). keratin filament 0 CTGGCAGCATGAAGTGGAAGC 0.632 64 236 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47546006 47546006 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:47546006C>T uc002zia.1 + 26 2359 c.2277C>T c.(2275-2277)ATC>ATT p.I759I COL6A2_uc002zhy.1_Silent_p.I759I|COL6A2_uc002zhz.1_Silent_p.I759I|COL6A2_uc002zib.1_Silent_p.I165I|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 759 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCATCGGCATCGGGGACATGT 0.627 16 260 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47864606 47864606 + Splice_Site SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr21:47864606G>C uc002zji.3 + 46 9947 c.9840_splice c.e46-1 p.R3280_splice PCNT_uc002zjj.2_Splice_Site_p.R3083_splice NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TTTGTTTGAAGAGCCACTCCA 0.403 13 110 --- --- --- --- PASS OR11H1 81061 broad.mit.edu 37 22 16449122 16449122 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:16449122A>T uc011agd.1 - 1 683 c.683T>A c.(682-684)TTT>TAT p.F228Y NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 228 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) TCCAATAATAAAGAGGAAGTT 0.438 31 220 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619130 17619130 + Silent SNP T A A rs138657583 byFrequency TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:17619130T>A uc002zmf.2 - 8 1081 c.1053A>T c.(1051-1053)TCA>TCT p.S351S CECR5_uc002zmd.2_Silent_p.S162S|CECR5_uc002zme.2_Silent_p.S143S|CECR5_uc002zmg.2_Silent_p.S151S|CECR5_uc002zmh.2_Silent_p.S321S NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 351 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) TCTGGCTTGCTGAGGGCTGTT 0.617 24 41 --- --- --- --- PASS HIRA 7290 broad.mit.edu 37 22 19371184 19371184 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:19371184C>T uc002zpf.1 - 13 1594 c.1374G>A c.(1372-1374)CGG>CGA p.R458R HIRA_uc011agx.1_Silent_p.R324R|HIRA_uc010grn.1_Silent_p.R458R|HIRA_uc010gro.1_Silent_p.R414R|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 458 Interaction with CCNA1.|Interaction with ASF1A.|Required for repression of histone gene transcription. RRR->KKK: Impairs binding to ASF1A.|RR->AK: Impairs binding to ASF1A.|Missing: Impairs binding to ASF1A.|R->A: Impairs binding to ASF1A.|RRR->AKK: Abrogates binding to ASF1A.|R->K: Impairs binding to ASF1A; when associated with K-460. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) TGATTCTTCTCCGGCCATCTG 0.448 6 224 --- --- --- --- PASS HIRA 7290 broad.mit.edu 37 22 19384325 19384325 + Silent SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:19384325G>C uc002zpf.1 - 7 859 c.639C>G c.(637-639)ACC>ACG p.T213T HIRA_uc011agx.1_Silent_p.T79T|HIRA_uc010grn.1_Silent_p.T213T|HIRA_uc010gro.1_Silent_p.T169T|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 213 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CAAAAGGCTTGGTGATGCTGG 0.567 36 81 --- --- --- --- PASS TRMT2A 27037 broad.mit.edu 37 22 20103652 20103652 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:20103652C>A uc002zrk.1 - 3 723 c.508G>T c.(508-510)GAC>TAC p.D170Y TRMT2A_uc002zrl.1_Missense_Mutation_p.D170Y|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.D170Y|TRMT2A_uc011ahk.1_Missense_Mutation_p.D170Y|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 170 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GTCACCACGTCGGCCACTCGT 0.642 15 65 --- --- --- --- PASS HIC2 23119 broad.mit.edu 37 22 21799210 21799210 + Splice_Site SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:21799210G>A uc002zur.3 + 3 257 c.27_splice c.e3-1 p.R9_splice HIC2_uc002zus.3_Splice_Site_p.R9_splice NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CTTGCCCACAGGTGGTGCGCG 0.667 12 59 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22724275 22724275 + RNA SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:22724275C>T uc011aim.1 + 43 c.4548C>T Parts of antibodies, mostly variable regions. 0 CCTACTGGTTCCAGCAGAAGC 0.582 13 32 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25243621 25243621 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:25243621C>G uc003abg.2 + 4 317 c.160C>G c.(160-162)CTG>GTG p.L54V SGSM1_uc003abh.2_Missense_Mutation_p.L54V|SGSM1_uc010guu.1_Missense_Mutation_p.L54V|SGSM1_uc003abj.2_Missense_Mutation_p.L54V|SGSM1_uc003abi.1_Missense_Mutation_p.L29V|SGSM1_uc003abf.2_Missense_Mutation_p.L54V NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 54 RUN. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 GGCCTGCGTTCTGCACGGGCT 0.622 4 24 --- --- --- --- PASS TFIP11 24144 broad.mit.edu 37 22 26888319 26888319 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:26888319G>T uc003acr.2 - 14 2548 c.2174C>A c.(2173-2175)CCA>CAA p.P725Q TFIP11_uc003acq.2_Missense_Mutation_p.P84Q|TFIP11_uc003acs.2_Missense_Mutation_p.P725Q|TFIP11_uc003act.2_Missense_Mutation_p.P725Q|uc003acu.1_RNA NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 725 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 CCGTGCTCCTGGCTGCATGTA 0.582 10 176 --- --- --- --- PASS SYN3 8224 broad.mit.edu 37 22 33402434 33402434 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:33402434G>C uc003amx.2 - 1 373 c.214C>G c.(214-216)CAG>GAG p.Q72E SYN3_uc003amy.2_Missense_Mutation_p.Q72E|SYN3_uc003amz.2_Missense_Mutation_p.Q72E NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 72 B; linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GAGGTGGCCTGAGGGGCCTGC 0.602 27 162 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33712171 33712171 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:33712171A>G uc003and.3 - 12 1930 c.1351T>C c.(1351-1353)TTC>CTC p.F451L LARGE_uc011amd.1_Missense_Mutation_p.F250L|LARGE_uc003ane.3_Missense_Mutation_p.F451L|LARGE_uc010gwp.2_Missense_Mutation_p.F399L|LARGE_uc011ame.1_Missense_Mutation_p.F383L|LARGE_uc011amf.1_Missense_Mutation_p.F451L|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 451 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TGGACAGTGAAGCGCTCTCGC 0.602 8 69 --- --- --- --- PASS APOL6 80830 broad.mit.edu 37 22 36055367 36055367 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:36055367C>G uc003aoe.2 + 3 1050 c.756C>G c.(754-756)CTC>CTG p.L252L APOL6_uc003aod.2_RNA NM_030641 NP_085144 Q9BWW8 APOL6_HUMAN apolipoprotein L6 252 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity 0 TGGCCACTCTCTCAAAGGAAT 0.527 5 101 --- --- --- --- PASS TMPRSS6 164656 broad.mit.edu 37 22 37462230 37462230 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:37462230A>G uc003aqs.1 - 18 2440 c.2326T>C c.(2326-2328)TTC>CTC p.F776L TMPRSS6_uc003aqt.1_Missense_Mutation_p.F789L NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 776 Peptidase S1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CCCGCCAGGAACCAGCGGCCA 0.617 7 22 --- --- --- --- PASS CYTH4 27128 broad.mit.edu 37 22 37693655 37693655 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:37693655C>T uc003arf.2 + 5 401 c.285C>T c.(283-285)GAC>GAT p.D95D CYTH4_uc003ard.3_Silent_p.D95D|CYTH4_uc003are.2_Silent_p.D95D|CYTH4_uc011amw.1_Silent_p.D38D|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 95 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 ACGTCCAGGACATTGCACGGT 0.567 20 140 --- --- --- --- PASS SUN2 25777 broad.mit.edu 37 22 39138319 39138319 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:39138319G>T uc003awh.1 - 10 1339 c.1055C>A c.(1054-1056)GCT>GAT p.A352D SUN2_uc011anz.1_Missense_Mutation_p.A387D|SUN2_uc011aoa.1_Missense_Mutation_p.A341D|SUN2_uc003awi.1_Missense_Mutation_p.A352D|SUN2_uc010gxq.1_Missense_Mutation_p.A373D|SUN2_uc010gxr.1_Missense_Mutation_p.A352D|SUN2_uc010gxs.1_Missense_Mutation_p.A352D NM_015374 NP_056189 Q9UH99 SUN2_HUMAN unc-84 homolog B 352 Potential.|Perinuclear space. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding large_intestine(1)|skin(1) 2 GATGCGAGCAGCAGTTTCCCT 0.617 16 102 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40718922 40718922 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:40718922C>G uc011aor.1 + 23 5390 c.5179C>G c.(5179-5181)CTG>GTG p.L1727V TNRC6B_uc003aym.2_Missense_Mutation_p.L923V|TNRC6B_uc003ayn.3_Missense_Mutation_p.L1617V NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1727 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CAGCCGCTTTCTGGCACAAGC 0.582 20 38 --- --- --- --- PASS SGSM3 27352 broad.mit.edu 37 22 40803811 40803811 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:40803811G>A uc003ayu.1 + 14 1752 c.1543G>A c.(1543-1545)GAG>AAG p.E515K SGSM3_uc011aos.1_Missense_Mutation_p.E448K|SGSM3_uc011aot.1_Missense_Mutation_p.E452K|SGSM3_uc010gyd.1_Missense_Mutation_p.E586K NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 515 SH3. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 TCAGAAGGACGAGCACTGCTG 0.632 27 70 --- --- --- --- PASS XPNPEP3 63929 broad.mit.edu 37 22 41278163 41278163 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:41278163C>G uc003azh.2 + 3 663 c.571C>G c.(571-573)CTT>GTT p.L191V XPNPEP3_uc011aox.1_Missense_Mutation_p.L191V|XPNPEP3_uc003azi.2_Missense_Mutation_p.L112V|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, 191 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity 0 ATTTCAACATCTTCTACCAAA 0.418 51 107 --- --- --- --- PASS ZC3H7B 23264 broad.mit.edu 37 22 41751776 41751776 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:41751776G>A uc003azw.2 + 19 2400 c.2184G>A c.(2182-2184)CGG>CGA p.R728R ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 744 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CCAAGGAGCGGCGGGTCCTTC 0.597 17 21 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42042909 42042909 + Silent SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:42042909G>A uc003bao.1 + 7 853 c.783G>A c.(781-783)CTG>CTA p.L261L XRCC6_uc003bap.1_Silent_p.L220L|XRCC6_uc011apc.1_Silent_p.L211L|XRCC6_uc003baq.1_Silent_p.L261L|XRCC6_uc003bar.1_Silent_p.L261L|XRCC6_uc003bas.1_Silent_p.L211L NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 261 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding p.L261L(1) skin(2)|ovary(1)|lung(1)|kidney(1) 5 GGTTAAAGCTGAAGCTCAACA 0.383 Direct_reversal_of_damage|NHEJ 17 349 --- --- --- --- PASS C22orf9 23313 broad.mit.edu 37 22 45595791 45595791 + Silent SNP G A A rs150877720 TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:45595791G>A uc003bfx.1 - 8 1044 c.978C>T c.(976-978)AAC>AAT p.N326N C22orf9_uc010gzw.1_Silent_p.N178N|C22orf9_uc003bfv.1_Silent_p.N335N|C22orf9_uc003bfw.1_Silent_p.N331N|C22orf9_uc010gzx.2_Silent_p.N308N NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 326 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) CCTCGCTGTCGTTGGCCGAGT 0.627 29 146 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46654413 46654413 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:46654413C>T uc003bhh.2 - 1 4807 c.4807G>A c.(4807-4809)GGC>AGC p.G1603S NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1603 Extracellular (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) TTGTCATAGCCGTAAGTCAGT 0.393 29 93 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5821118 5821118 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:5821118C>T uc010ndh.2 - 5 2102 c.1601G>A c.(1600-1602)GGT>GAT p.G534D NLGN4X_uc004crp.2_Missense_Mutation_p.G554D|NLGN4X_uc004crq.2_Missense_Mutation_p.G534D|NLGN4X_uc010ndi.2_Missense_Mutation_p.G571D|NLGN4X_uc004crr.2_Missense_Mutation_p.G534D|NLGN4X_uc010ndj.2_Missense_Mutation_p.G534D NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 534 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 ATGAACGTACCCAGTTTTGGC 0.478 8 82 --- --- --- --- PASS ASB11 140456 broad.mit.edu 37 X 15311360 15311360 + Missense_Mutation SNP A T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:15311360A>T uc004cwp.1 - 4 452 c.452T>A c.(451-453)CTG>CAG p.L151Q ASB11_uc004cwo.1_Missense_Mutation_p.L130Q|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.L134Q NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 151 ANK 3. intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) TCCGAACTCCAGCAGCACATT 0.547 51 190 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21534642 21534642 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:21534642G>C uc004czx.1 + 9 886 c.850G>C c.(850-852)GAG>CAG p.E284Q CNKSR2_uc004czw.2_Missense_Mutation_p.E284Q|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.E284Q NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 284 PDZ. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TGCACTACGAGAGGACCCGAG 0.413 34 129 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23018538 23018538 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:23018538G>C uc004daj.2 + 1 452 c.364G>C c.(364-366)GAA>CAA p.E122Q NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 122 nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 CTACAACTCAGAATCCAGTGT 0.403 10 122 --- --- --- --- PASS LANCL3 347404 broad.mit.edu 37 X 37526617 37526617 + Silent SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:37526617C>G uc011mkd.1 + 4 1280 c.978C>G c.(976-978)CTC>CTG p.L326L LANCL3_uc004ddp.1_Silent_p.L326L NM_198511 NP_940913 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 326 catalytic activity 0 GTGGGGAACTCACATGGCAGA 0.507 14 63 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38144829 38144829 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:38144829C>A uc004ded.1 - 15 3591 c.3423G>T c.(3421-3423)TGG>TGT p.W1141C RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:Variant_position_missing_in_Q92834_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 ATACATTATTCCAGAACTTTT 0.398 87 76 --- --- --- --- PASS ARAF 369 broad.mit.edu 37 X 47426294 47426294 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:47426294G>C uc011mlq.1 + 8 844 c.711G>C c.(709-711)CAG>CAC p.Q237H ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.Q103H|ARAF_uc011mlp.1_Missense_Mutation_p.Q237H|ARAF_uc004dic.1_Missense_Mutation_p.Q18H NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 237 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) TCACTGGCCAGAGTTTCAGCA 0.602 19 71 --- --- --- --- PASS MAGED1 9500 broad.mit.edu 37 X 51644851 51644851 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:51644851G>C uc004dpm.2 + 12 2257 c.2162G>C c.(2161-2163)GGA>GCA p.G721A MAGED1_uc004dpn.2_Missense_Mutation_p.G777A|MAGED1_uc004dpo.2_Missense_Mutation_p.G721A NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 721 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) GATGAGGAAGGAGATTTTGGA 0.542 Multiple Myeloma(10;0.10) 12 43 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53584372 53584372 + Nonsense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:53584372G>C uc004dsp.2 - 60 8579 c.8177C>G c.(8176-8178)TCA>TGA p.S2726* HUWE1_uc004dsn.2_Nonsense_Mutation_p.S1550*|MIR98_hsa-mir-98|MI0000100_5'Flank|uc004dsr.1_5'Flank|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2726 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GGAGTCATTTGACTTAGATGC 0.433 9 82 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54952896 54952896 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:54952896T>A uc004dtq.2 + 8 1738 c.1631T>A c.(1630-1632)TTT>TAT p.F544Y TRO_uc004dts.2_Missense_Mutation_p.F544Y|TRO_uc004dtr.2_Missense_Mutation_p.F544Y|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.F147Y|TRO_uc011mok.1_Missense_Mutation_p.F75Y|TRO_uc004dtw.2_Missense_Mutation_p.F147Y|TRO_uc004dtx.2_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 544 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 AGTGTCATTTTTATGAATGGC 0.493 13 68 --- --- --- --- PASS USP51 158880 broad.mit.edu 37 X 55514731 55514731 + Silent SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:55514731G>T uc004dun.1 - 2 721 c.642C>A c.(640-642)ATC>ATA p.I214I USP51_uc011moo.1_Intron NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 214 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AACGCTGGTAGATCAACCTCA 0.493 40 18 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64137706 64137706 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:64137706C>A uc004dvu.2 - 5 720 c.632G>T c.(631-633)CGG>CTG p.R211L ZC4H2_uc004dvv.2_Missense_Mutation_p.R188L|ZC4H2_uc011mov.1_Missense_Mutation_p.R188L|ZC4H2_uc011mow.1_Missense_Mutation_p.G157C|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 211 metal ion binding|protein binding ovary(1) 1 GTTCCGGGACCGACTCTTGGC 0.488 20 15 --- --- --- --- PASS P2RY4 5030 broad.mit.edu 37 X 69478906 69478906 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:69478906C>G uc004dxz.1 - 1 749 c.569G>C c.(568-570)CGG>CCG p.R190P NM_002565 NP_002556 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y4 190 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 CTCTTCAGGCCGAGTGGTGTC 0.572 40 14 --- --- --- --- PASS P2RY4 5030 broad.mit.edu 37 X 69478907 69478907 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:69478907G>A uc004dxz.1 - 1 748 c.568C>T c.(568-570)CGG>TGG p.R190W NM_002565 NP_002556 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y4 190 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 TCTTCAGGCCGAGTGGTGTCA 0.572 40 12 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70472742 70472742 + Missense_Mutation SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:70472742C>T uc004dzh.1 - 2 451 c.364G>A c.(364-366)GAG>AAG p.E122K BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E122K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E122K|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.E122K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E122K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E122K NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 122 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GGTACCACCTCAGGGGTCTGG 0.622 9 27 --- --- --- --- PASS RGAG4 340526 broad.mit.edu 37 X 71351267 71351267 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:71351267C>A uc010nlh.1 - 1 485 c.124G>T c.(124-126)GAG>TAG p.E42* NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 42 ovary(2)|skin(1) 3 Renal(35;0.156) GAATTAACCTCGGCCAGGGCT 0.597 41 49 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79282234 79282234 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:79282234C>A uc010nmg.1 + 6 799 c.665C>A c.(664-666)CCC>CAC p.P222H TBX22_uc004edi.1_Missense_Mutation_p.P102H|TBX22_uc004edj.1_Missense_Mutation_p.P222H NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 222 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AAGTACAAACCCCGAGTGCAC 0.458 42 50 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79937529 79937529 + Missense_Mutation SNP G A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:79937529G>A uc004edt.2 - 39 4725 c.4462C>T c.(4462-4464)CAT>TAT p.H1488Y BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edp.2_Missense_Mutation_p.H1317Y|BRWD3_uc004edq.2_Missense_Mutation_p.H1084Y|BRWD3_uc010nmj.1_Missense_Mutation_p.H1084Y|BRWD3_uc004edr.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eds.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edu.2_Missense_Mutation_p.H1158Y|BRWD3_uc004edv.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edw.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edx.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edy.2_Missense_Mutation_p.H1084Y|BRWD3_uc004edz.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eea.2_Missense_Mutation_p.H1158Y|BRWD3_uc004eeb.2_Missense_Mutation_p.H1084Y NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1488 ovary(4) 4 GTCCTGGCATGAGATACTGAG 0.353 24 114 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128683 83128683 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:83128683A>G uc004eei.1 + 4 988 c.967A>G c.(967-969)AAA>GAA p.K323E CYLC1_uc004eeh.1_Missense_Mutation_p.K322E NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 323 2. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AGATGACAAGAAAAAGGATGT 0.274 12 33 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86887307 86887307 + Missense_Mutation SNP T G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:86887307T>G uc004efb.2 + 7 1604 c.1422T>G c.(1420-1422)ATT>ATG p.I474M KLHL4_uc004efa.2_Missense_Mutation_p.I474M NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 474 Kelch 1. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TCGCAGTTATTGATAATAAGC 0.413 46 26 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88009209 88009209 + Missense_Mutation SNP T C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:88009209T>C uc004efd.3 + 3 1053 c.794T>C c.(793-795)GTT>GCT p.V265A CPXCR1_uc004efc.3_Missense_Mutation_p.V265A NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 265 intracellular zinc ion binding ovary(3) 3 ACCATGAATGTTATGATCACA 0.328 24 25 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927281 92927281 + Silent SNP C T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:92927281C>T uc004efq.2 - 1 1328 c.1023G>A c.(1021-1023)TCG>TCA p.S341S FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 341 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GGCTAACATCCGACAAGAACT 0.423 68 44 --- --- --- --- PASS CENPI 2491 broad.mit.edu 37 X 100417910 100417910 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:100417910C>G uc004egx.2 + 21 2495 c.2225C>G c.(2224-2226)TCT>TGT p.S742C CENPI_uc011mrg.1_Missense_Mutation_p.S728C NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 742 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 GTTCATCATTCTTCCATTCCC 0.388 111 63 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100617573 100617573 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:100617573G>T uc004ehg.2 - 6 689 c.496C>A c.(496-498)CAA>AAA p.Q166K BTK_uc010nnn.2_Missense_Mutation_p.Q166K|BTK_uc010nno.2_Missense_Mutation_p.Q200K|BTK_uc004ehi.2_Missense_Mutation_p.Q166K NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 166 Btk-type. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TCCAAAATTTGGCAGCCCATA 0.448 Agammaglobulinemia_X-linked 116 79 --- --- --- --- PASS TCEAL5 340543 broad.mit.edu 37 X 102528982 102528982 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:102528982C>G uc004ejz.1 - 3 805 c.510G>C c.(508-510)TGG>TGC p.W170C NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 CTCTTTGCATCCAATGAAAAC 0.517 53 162 --- --- --- --- PASS MUM1L1 139221 broad.mit.edu 37 X 105450803 105450803 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:105450803G>C uc004emf.1 + 4 2027 c.1378G>C c.(1378-1380)GAG>CAG p.E460Q MUM1L1_uc004emg.1_Missense_Mutation_p.E460Q NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 460 ovary(2)|pancreas(1)|skin(1) 4 CAAAGCCAGGGAGGATTATAG 0.363 54 50 --- --- --- --- PASS TEX13B 56156 broad.mit.edu 37 X 107224904 107224904 + Missense_Mutation SNP G T T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:107224904G>T uc004enn.1 - 2 547 c.454C>A c.(454-456)CAT>AAT p.H152N NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 152 ovary(1) 1 CTTACGGCATGGAAGAGCTTC 0.597 15 80 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110644549 110644549 + Missense_Mutation SNP T A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:110644549T>A uc004epd.2 - 3 789 c.617A>T c.(616-618)TAT>TTT p.Y206F DCX_uc011msv.1_Missense_Mutation_p.Y206F|DCX_uc004epe.2_Missense_Mutation_p.Y125F|DCX_uc004epf.2_Missense_Mutation_p.Y125F|DCX_uc004epg.2_Missense_Mutation_p.Y125F NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 206 Doublecortin 1. Y -> H (in LISX1 and SBHX).|Y -> D (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GGAACAGACATAGCTTTCCCC 0.378 78 55 --- --- --- --- PASS IL13RA1 3597 broad.mit.edu 37 X 117900499 117900499 + Missense_Mutation SNP G C C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:117900499G>C uc004eqs.2 + 7 878 c.835G>C c.(835-837)GAG>CAG p.E279Q IL13RA1_uc004eqt.1_Missense_Mutation_p.E279Q NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 279 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 CAAGGTCCAAGAGGCTAAATG 0.338 45 36 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685517 125685517 + Missense_Mutation SNP A G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:125685517A>G uc004eul.2 - 1 1326 c.1075T>C c.(1075-1077)TAC>CAC p.Y359H NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 359 WD 4. skin(3)|ovary(1) 4 ATGTGGCGGTAGAAGCTCAGC 0.622 4 38 --- --- --- --- PASS ELF4 2000 broad.mit.edu 37 X 129205333 129205333 + Missense_Mutation SNP C G G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:129205333C>G uc004evd.3 - 6 979 c.594G>C c.(592-594)AGG>AGC p.R198S ELF4_uc004eve.3_Missense_Mutation_p.R198S NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 198 RUNX1-binding. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTGATTTCTTCCTAATGGGGA 0.592 T ERG AML 14 59 --- --- --- --- PASS RAB33A 9363 broad.mit.edu 37 X 129318484 129318484 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:129318484C>A uc004evl.2 + 2 748 c.484C>A c.(484-486)CCC>ACC p.P162T RAB33A_uc010nre.2_RNA NM_004794 NP_004785 Q14088 RB33A_HUMAN Ras-related protein Rab-33A 162 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding 0 GATCCAGGTGCCCTCCAACTT 0.512 12 106 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142803733 142803733 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:142803733C>A uc004fbz.2 - 1 784 c.30G>T c.(28-30)GGG>GGT p.G10G NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 10 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTTCTCCCCATTGGTGC 0.333 155 178 --- --- --- --- PASS MIR510 574515 broad.mit.edu 37 X 146353923 146353923 + RNA SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:146353923C>A hsa-mir-510|MI0003197 - c.4C>A 0 GAGTAGGACACCACACACATA 0.398 5 76 --- --- --- --- PASS CD99L2 83692 broad.mit.edu 37 X 149937524 149937524 + Nonsense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:149937524C>A uc004fel.2 - 11 890 c.772G>T c.(772-774)GAA>TAA p.E258* CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Nonsense_Mutation_p.E209*|CD99L2_uc004fen.2_Nonsense_Mutation_p.E186*|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Nonsense_Mutation_p.E185* NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 258 Cytoplasmic (Potential).|Poly-Pro. cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGGGCTGGTTCGGGCGGCGGC 0.622 43 39 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870215 151870215 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:151870215C>A uc004ffq.1 + 3 1099 c.905C>A c.(904-906)CCA>CAA p.P302Q MAGEA6_uc004ffr.1_Missense_Mutation_p.P302Q|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 302 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) ATTTCCTACCCACTCCTGCAT 0.562 90 67 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870217 151870217 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:151870217C>A uc004ffq.1 + 3 1101 c.907C>A c.(907-909)CTC>ATC p.L303I MAGEA6_uc004ffr.1_Missense_Mutation_p.L303I|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 303 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTACCCACTCCTGCATGA 0.572 92 69 --- --- --- --- PASS PNCK 139728 broad.mit.edu 37 X 152936585 152936585 + Silent SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:152936585C>A uc011myu.1 - 8 1110 c.924G>T c.(922-924)CTG>CTT p.L308L PNCK_uc011myt.1_Silent_p.L242L|PNCK_uc004fia.2_Silent_p.L260L|PNCK_uc004fhz.3_Silent_p.L123L|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 225 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCTGGCCCTCAGGATCTGGC 0.587 10 100 --- --- --- --- PASS UBL4A 8266 broad.mit.edu 37 X 153713988 153713988 + Missense_Mutation SNP C A A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:153713988C>A uc004flo.2 - 4 373 c.364G>T c.(364-366)GAT>TAT p.D122Y NM_014235 NP_055050 P11441 UBL4A_HUMAN ubiquitin-like 4 122 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity 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) CTCTCGTAATCCTGGGGAGAG 0.607 5 85 --- --- --- --- PASS EDIL3 10085 broad.mit.edu 37 5 83433136 83433136 + Frame_Shift_Del DEL C - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr5:83433136delC uc003kio.1 - 5 811 c.392delG c.(391-393)GGTfs p.G131fs EDIL3_uc003kip.1_Frame_Shift_Del_p.G121fs NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 131 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ACATATTCCACCATTTTTGCA 0.333 195 87 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113651071 113651071 + Frame_Shift_Del DEL C - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr8:113651071delC uc003ynu.2 - 21 3539 c.3380delG c.(3379-3381)GGCfs p.G1127fs CSMD3_uc003yns.2_Frame_Shift_Del_p.G399fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.G1087fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.G1023fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1127 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 GGTAAAACTGCCATTCTCTGT 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 92 59 --- --- --- --- CCND2 894 broad.mit.edu 37 12 4385331 4385331 + Frame_Shift_Del DEL C - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr12:4385331delC uc001qmo.2 + 2 661 c.356delC c.(355-357)ACCfs p.T119fs NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 119 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AGCCCGCTGACCGCGGAGAAG 0.582 T IGL@ NHL,CLL 70 77 --- --- --- --- SEC14L5 9717 broad.mit.edu 37 16 5061152 5061152 + Frame_Shift_Del DEL C - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr16:5061152delC uc002cye.2 + 15 2037 c.1857delC c.(1855-1857)AGCfs p.S619fs NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 619 GOLD. integral to membrane|intracellular transporter activity 0 AAATGCACAGCCCCCCCAGCA 0.662 18 9 --- --- --- --- SBNO2 22904 broad.mit.edu 37 19 1109754 1109756 + In_Frame_Del DEL CTC - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr19:1109754_1109756delCTC uc002lrk.3 - 27 3287_3289 c.3049_3051delGAG c.(3049-3051)GAGdel p.E1017del SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_In_Frame_Del_p.E960del|SBNO2_uc010dse.2_In_Frame_Del_p.E1000del|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 1017 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTAGATCTCCTCGATACCG 0.675 31 30 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41642673 41642673 + Frame_Shift_Del DEL G - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chr22:41642673delG uc003azs.2 - 15 3168 c.1698delC c.(1696-1698)CCCfs p.P566fs RANGAP1_uc003azt.2_Frame_Shift_Del_p.P566fs|RANGAP1_uc003azu.2_Frame_Shift_Del_p.P566fs|RANGAP1_uc003azr.2_Frame_Shift_Del_p.P79fs|RANGAP1_uc010gyk.2_Frame_Shift_Del_p.P69fs|RANGAP1_uc011aoz.1_Frame_Shift_Del_p.P511fs NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 566 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 GGGCGCTGTTGGGCCTGCGGG 0.562 5 7 --- --- --- --- FAM47A 158724 broad.mit.edu 37 X 34148575 34148575 + Frame_Shift_Del DEL T - - TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 2045c788-9ea8-4ea5-a5e3-65fc16a62adb 059e5a0f-ca79-4cac-b2a9-f39bb8d44206 g.chrX:34148575delT uc004ddg.2 - 1 1854 c.1821delA c.(1819-1821)AAAfs p.K607fs NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 607 ovary(4)|central_nervous_system(1) 5 ATTCACGGAGTTTTTCCGATG 0.443 50 47 --- --- --- ---