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 NOL9 79707 broad.mit.edu 37 1 6592578 6592578 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:6592578G>A uc001ans.2 - 8 1499 c.1480C>T c.(1480-1482)CAT>TAT p.H494Y NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 494 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) ATCAGTTTATGTCCAGTGAAC 0.393 37 20 --- --- --- --- PASS C1orf187 374946 broad.mit.edu 37 1 11766340 11766340 + Missense_Mutation SNP G A A rs141904724 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:11766340G>A uc001asr.1 + 2 165 c.25G>A c.(25-27)GCT>ACT p.A9T NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 9 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) CATCCACACCGCTCCCATGCT 0.637 10 2 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16893800 16893800 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:16893800C>A uc009vos.1 - 26 3826 c.2938G>T c.(2938-2940)GAC>TAC p.D980Y NBPF1_uc009vot.1_Missense_Mutation_p.D363Y|NBPF1_uc001ayz.1_Missense_Mutation_p.D363Y|NBPF1_uc010oce.1_Missense_Mutation_p.D634Y NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 980 NBPF 6. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCCAGTGAGTCCTGCAAGACT 0.478 8 758 --- --- --- --- PASS PLA2G5 5322 broad.mit.edu 37 1 20412680 20412680 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:20412680G>A uc001bcy.2 + 3 413 c.145G>A c.(145-147)GGC>AGC p.G49S PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Missense_Mutation_p.G80S NM_000929 NP_000920 P39877 PA2G5_HUMAN phospholipase A2, group V precursor 49 Calcium; via carbonyl oxygen (By similarity). lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) CTGTTACTGCGGCTGGGGCGG 0.502 15 8 --- --- --- --- PASS OPRD1 4985 broad.mit.edu 37 1 29189553 29189553 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:29189553G>C uc001brf.1 + 3 1119 c.877G>C c.(877-879)GAC>CAC p.D293H NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 293 Extracellular (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CGACCGGCGCGACCCGCTGGT 0.637 5 2 --- --- --- --- PASS YBX1 4904 broad.mit.edu 37 1 43161906 43161906 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:43161906C>T uc001chs.2 + 4 472 c.301C>T c.(301-303)CGC>TGC p.R101C NM_004559 NP_004550 P67809 YBOX1_HUMAN nuclease sensitive element binding protein 1 101 CSD. CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(4)|upper_aerodigestive_tract(1) 5 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAAGTACCTTCGCAGTGTAGG 0.363 36 17 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45232773 45232773 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:45232773C>T uc001cmg.3 + 21 2215 c.2100C>T c.(2098-2100)GTC>GTT p.V700V KIF2C_uc010olb.1_Silent_p.V659V|KIF2C_uc010olc.1_Silent_p.V587V|KIF2C_uc001cmh.3_Silent_p.V646V NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 700 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TTCCAGATGTCATCAAGGCCT 0.537 34 6 --- --- --- --- PASS PRDX1 5052 broad.mit.edu 37 1 45981401 45981401 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:45981401C>G uc001cnz.2 - 2 217 c.185G>C c.(184-186)AGG>ACG p.R62T PRDX1_uc001coa.2_Missense_Mutation_p.R62T|PRDX1_uc001cob.2_Missense_Mutation_p.R62T|PRDX1_uc001coc.2_Missense_Mutation_p.R62T NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 62 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity 0 Acute lymphoblastic leukemia(166;0.155) TTCTTCTGCCCTATCACTGAA 0.428 17 32 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92200510 92200510 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:92200510C>G uc001doh.2 - 5 857 c.391G>C c.(391-393)GAG>CAG p.E131Q TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.E89Q|TGFBR3_uc001doi.2_Missense_Mutation_p.E131Q|TGFBR3_uc001doj.2_Missense_Mutation_p.E131Q NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 131 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ACAGAACCCTCAGACACCTAG 0.418 48 19 --- --- --- --- PASS EXTL2 2135 broad.mit.edu 37 1 101339555 101339555 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:101339555G>A uc001dtk.1 - 5 1273 c.936C>T c.(934-936)TCC>TCT p.S312S EXTL2_uc001dtl.1_Silent_p.S312S|EXTL2_uc010ouk.1_Silent_p.S299S|EXTL2_uc001dtm.1_Silent_p.S311S NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 312 Lumenal (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TCATAATGTTGGAGTATCTTA 0.353 32 14 --- --- --- --- PASS TRIM45 80263 broad.mit.edu 37 1 117663389 117663389 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:117663389C>G uc001egz.2 - 1 1023 c.435G>C c.(433-435)AAG>AAC p.K145N TRIM45_uc009whe.2_Missense_Mutation_p.K145N|TRIM45_uc001eha.2_Missense_Mutation_p.K41N NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 145 B box-type 1. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TCTGACACCTCTTCTCTACTT 0.542 21 9 --- --- --- --- PASS WARS2 10352 broad.mit.edu 37 1 119584928 119584928 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:119584928G>A uc001ehn.2 - 4 502 c.474C>T c.(472-474)CTC>CTT p.L158L WARS2_uc010oxf.1_Silent_p.L64L|WARS2_uc001ehm.2_Silent_p.L158L|WARS2_uc010oxg.1_Silent_p.L101L|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 158 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CTGGGTATGTGAGCAGGCCCA 0.468 34 21 --- --- --- --- PASS HIST2H2BE 8349 broad.mit.edu 37 1 149858030 149858030 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:149858030C>T uc001etc.2 - 1 203 c.161G>A c.(160-162)GGC>GAC p.G54D HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGATGCCGGTGTCGGG 0.587 4 152 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153658607 153658607 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:153658607C>T uc001fcs.3 + 10 2110 c.1689C>T c.(1687-1689)CTC>CTT p.L563L NPR1_uc010pdz.1_Silent_p.L309L|NPR1_uc010pea.1_Intron NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 563 Cytoplasmic (Potential).|Protein kinase. 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) AGGGCAACCTCGTGGCTGTGA 0.552 6 10 --- --- --- --- PASS C1orf104 284618 broad.mit.edu 37 1 155290668 155290668 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:155290668G>A uc001fki.2 - 2 889 c.612C>T c.(610-612)TGC>TGT p.C204C RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 204 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GTGCAGCTGCGCAGCGCAGGG 0.667 4 5 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158735720 158735720 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:158735720G>A uc010piq.1 - 1 753 c.753C>T c.(751-753)TTC>TTT p.F251F NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGCTCCCATAGAAGATGAGAA 0.537 43 44 --- --- --- --- PASS AIM2 9447 broad.mit.edu 37 1 159043196 159043196 + Nonsense_Mutation SNP C A A rs2276405 byFrequency TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:159043196C>A uc001ftj.1 - 2 339 c.94G>T c.(94-96)GAG>TAG p.E32* NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 32 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) ATATTAAACTCGTCTGAAAGA 0.413 3 60 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181701980 181701980 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:181701980C>A uc001gow.2 + 20 2923 c.2758C>A c.(2758-2760)CGC>AGC p.R920S CACNA1E_uc009wxs.2_Missense_Mutation_p.R808S|CACNA1E_uc001gox.1_Missense_Mutation_p.R146S|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146S NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 920 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GAGCCAACGGCGCAGCCGGCA 0.652 35 38 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181765941 181765941 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:181765941C>T uc001gow.2 + 46 6382 c.6217C>T c.(6217-6219)CGC>TGC p.R2073C CACNA1E_uc009wxs.2_Missense_Mutation_p.R1961C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1342C NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2116 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GTCCCCAGAGCGCCGTCAATC 0.602 3 17 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182026213 182026213 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:182026213G>C uc001goz.2 - 2 1141 c.933C>G c.(931-933)TTC>TTG p.F311L NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 311 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTGTCGCAGAAGGAGCACT 0.667 13 11 --- --- --- --- PASS ARL8A 127829 broad.mit.edu 37 1 202107154 202107154 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:202107154C>A uc001gxk.1 - 3 383 c.217G>T c.(217-219)GGG>TGG p.G73W NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 73 GTP (By similarity). cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity ovary(2) 2 GGCTGTCCCCCAATGTCCCAG 0.607 4 42 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229667455 229667455 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:229667455G>T uc001htp.3 - 7 1406 c.1363C>A c.(1363-1365)CTG>ATG p.L455M NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 455 Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CCTTTCATCAGCTCCGAGTAG 0.552 7 72 --- --- --- --- PASS GALNT2 2590 broad.mit.edu 37 1 230401027 230401027 + Nonsense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:230401027C>T uc010pwa.1 + 14 1426 c.1354C>T c.(1354-1356)CAG>TAG p.Q452* GALNT2_uc010pvy.1_Nonsense_Mutation_p.Q414*|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Nonsense_Mutation_p.Q64* NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 452 Lumenal (Potential).|Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGCCTTGCAGCAGGGAACTAA 0.517 71 96 --- --- --- --- PASS COG2 22796 broad.mit.edu 37 1 230810750 230810750 + Missense_Mutation SNP A T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:230810750A>T uc001htw.2 + 9 1057 c.906A>T c.(904-906)AAA>AAT p.K302N COG2_uc001htx.2_Missense_Mutation_p.K302N|COG2_uc010pwc.1_Missense_Mutation_p.K175N NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 302 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) ACAGTGAAAAAGGCAATACTG 0.368 46 57 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255883 240255883 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:240255883G>A uc010pyd.1 + 1 699 c.474G>A c.(472-474)CCG>CCA p.P158P FMN2_uc010pye.1_Silent_p.P158P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 158 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGCCGGCCGATCGCCGAGG 0.667 6 10 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343731 248343731 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr1:248343731C>T uc010pzf.1 + 1 444 c.444C>T c.(442-444)TCC>TCT p.S148S NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTACCTTCTCCTGGATCCTGG 0.438 9 232 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926282 1926282 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:1926282G>C uc002qxe.2 - 10 2086 c.1259C>G c.(1258-1260)TCT>TGT p.S420C MYT1L_uc002qxd.2_Missense_Mutation_p.S420C|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 420 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CACCTCTTCAGACCTGTCCGA 0.572 19 34 --- --- --- --- PASS PUM2 23369 broad.mit.edu 37 2 20511297 20511297 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:20511297C>G uc002rds.1 - 4 499 c.476G>C c.(475-477)AGA>ACA p.R159T PUM2_uc002rdt.1_Missense_Mutation_p.R159T|PUM2_uc002rdr.2_Missense_Mutation_p.R98T|PUM2_uc010yjy.1_Missense_Mutation_p.R159T|PUM2_uc002rdu.1_Missense_Mutation_p.R159T|PUM2_uc010yjz.1_Missense_Mutation_p.R98T NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 159 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGCAAACCTCTGCCATTTAT 0.353 27 48 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27456574 27456574 + Silent SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:27456574T>C uc002rji.2 + 21 3459 c.3297T>C c.(3295-3297)AAT>AAC p.N1099N CAD_uc010eyw.2_Silent_p.N1036N NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1099 CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGCTATGAATGTGGCCTACA 0.602 24 31 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29295660 29295660 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:29295660C>T uc002rmt.1 - 1 1468 c.1468G>A c.(1468-1470)GAG>AAG p.E490K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 490 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TCCTCCTCCTCTGGGCTGCTG 0.527 52 70 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32475940 32475940 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:32475940C>G uc002roi.2 - 4 1239 c.993G>C c.(991-993)TTG>TTC p.L331F NLRC4_uc002roj.1_Missense_Mutation_p.L331F|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 331 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAGATTCCTCAAGCACCTGG 0.488 22 24 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109086935 109086935 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:109086935G>C uc002tec.2 + 6 1304 c.1150G>C c.(1150-1152)GAG>CAG p.E384Q GCC2_uc002ted.2_Missense_Mutation_p.E283Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 384 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GGAAGACTTAGAGTTTAAAAT 0.284 23 57 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162865769 162865769 + Silent SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:162865769T>C uc002ubz.2 - 21 2430 c.1869A>G c.(1867-1869)CGA>CGG p.R623R DPP4_uc010fpb.2_Silent_p.R299R NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 623 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) AAATTGCAATTCGTTTGTTGT 0.363 35 4 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098944 178098944 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:178098944C>T uc002ulh.3 - 2 656 c.101G>A c.(100-102)CGA>CAA p.R34Q NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAATACTTCTCGACTTACTCC 0.373 Mis NSCLC|HNSCC HNSCC(56;0.16) 27 4 --- --- --- --- PASS TTC30B 150737 broad.mit.edu 37 2 178417117 178417117 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:178417117G>T uc002uln.2 - 1 408 c.375C>A c.(373-375)AGC>AGA p.S125R TTC30B_uc010zfc.1_5'UTR NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 125 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GATCGCCCTCGCTGTACTTGA 0.632 104 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179395596 179395596 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:179395596G>C uc010zfg.1 - 307 98266 c.98042C>G c.(98041-98043)TCT>TGT p.S32681C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26376C|TTN_uc010zfi.1_Missense_Mutation_p.S26309C|TTN_uc010zfj.1_Missense_Mutation_p.S26184C|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33608 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) TCGTTTTGGAGACTTAACTGC 0.493 7 65 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605171 179605171 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:179605171C>T uc010zfh.1 - 46 12500 c.12276G>A c.(12274-12276)TTG>TTA p.L4092L TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4025L|TTN_uc010zfj.1_Silent_p.L3900L|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 4017 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) AGCTCTGACTCAAGATGAGCG 0.468 19 7 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 186678693 186678693 + RNA SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr2:186678693C>G uc002upm.2 + 2 c.3331C>G uc010zfu.1_Missense_Mutation_p.A1248G Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669. AGAGCTGTTGCTGAGCTTGAC 0.433 10 54 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 6903173 6903173 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:6903173G>A uc003bqm.2 + 1 372 c.98G>A c.(97-99)CGC>CAC p.R33H GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R33H|GRM7_uc003bql.2_Missense_Mutation_p.R33H NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 33 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GCGGCGGCGCGCGGCCAGGAG 0.692 4 0 --- --- --- --- PASS SRGAP3 9901 broad.mit.edu 37 3 9101963 9101963 + Missense_Mutation SNP G C C rs143061036 byFrequency TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:9101963G>C uc003brf.1 - 6 1429 c.753C>G c.(751-753)AAC>AAG p.N251K SRGAP3_uc003brg.1_Missense_Mutation_p.N251K|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.N251K|SRGAP3_uc003brj.1_Missense_Mutation_p.N111K NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 251 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TTATAGCTGCGTTGGTGGCTG 0.522 T RAF1 pilocytic astrocytoma 35 14 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48627135 48627135 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:48627135C>T uc003ctz.2 - 16 2068 c.2067G>A c.(2065-2067)GTG>GTA p.V689V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 689 Nonhelical region (NC1).|Fibronectin type-III 6. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGACCGTCCTCACTGGGCCCA 0.592 26 5 --- --- --- --- PASS PCCB 5096 broad.mit.edu 37 3 136019916 136019916 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:136019916C>T uc003eqy.1 + 9 980 c.929C>T c.(928-930)TCA>TTA p.S310L PCCB_uc003eqz.1_Missense_Mutation_p.S310L|PCCB_uc011bmc.1_Missense_Mutation_p.S330L|PCCB_uc011bmd.1_Missense_Mutation_p.S227L NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 310 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) CCTTTGGAATCAACCAAAGCC 0.458 16 54 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 157839907 157839907 + Nonsense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:157839907C>A uc003fbt.2 + 2 125 c.14C>A c.(13-15)TCA>TAA p.S5* RSRC1_uc011bou.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbu.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbv.2_Nonsense_Mutation_p.S5* NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 5 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GGACGTCGGTCATCAGATACT 0.353 20 18 --- --- --- --- PASS MIR569 693154 broad.mit.edu 37 3 170824507 170824507 + RNA SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:170824507G>C hsa-mir-569|MI0003576 - c.42G>C TNIK_uc003fhh.2_Intron|TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron 0 TGTTGCTTCTGATGCTGTTGT 0.348 50 48 --- --- --- --- PASS TBL1XR1 79718 broad.mit.edu 37 3 176769461 176769461 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:176769461G>A uc003fiw.3 - 5 518 c.258C>T c.(256-258)GCC>GCT p.A86A TBL1XR1_uc003fix.3_Silent_p.A86A|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.A86A NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 86 F-box-like. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) CAGGCATTACGGCATCTATCA 0.458 28 24 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179537757 179537757 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr3:179537757G>A uc003fki.1 - 9 960 c.830C>T c.(829-831)ACA>ATA p.T277I PEX5L_uc011bqd.1_Missense_Mutation_p.T234I|PEX5L_uc011bqe.1_Missense_Mutation_p.T85I|PEX5L_uc011bqf.1_Missense_Mutation_p.T169I|PEX5L_uc003fkj.1_Missense_Mutation_p.T242I|PEX5L_uc010hxd.1_Missense_Mutation_p.T275I|PEX5L_uc011bqg.1_Missense_Mutation_p.T253I|PEX5L_uc011bqh.1_Missense_Mutation_p.T218I NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 277 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) CCAAAACTCTGTATCTGACTG 0.438 80 300 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043256 46043256 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:46043256G>T uc003gxb.2 - 9 1299 c.1147C>A c.(1147-1149)CAT>AAT p.H383N NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 383 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GATCCAGGATGGAGACCAGGA 0.388 18 19 --- --- --- --- PASS SGCB 6443 broad.mit.edu 37 4 52890291 52890291 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:52890291G>C uc003gzj.2 - 6 849 c.789C>G c.(787-789)GTC>GTG p.V263V SGCB_uc011bzp.1_Silent_p.V193V NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta 263 Extracellular (Potential).|Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) GGGTGGTGCTGACCATCACAG 0.468 18 23 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55974034 55974034 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:55974034G>C uc003has.2 - 10 1584 c.1282C>G c.(1282-1284)CTA>GTA p.L428V KDR_uc003hat.1_Missense_Mutation_p.L428V|KDR_uc011bzx.1_Missense_Mutation_p.L428V NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 428 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGAGAGATTAGAGATTTCTCA 0.458 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 21 40 --- --- --- --- PASS SRP72 6731 broad.mit.edu 37 4 57335839 57335839 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:57335839G>C uc003hbv.2 + 2 170 c.130G>C c.(130-132)GAC>CAC p.D44H SRP72_uc010ihe.2_Missense_Mutation_p.D44H NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 44 TPR 1. response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) CAACAAAGATGACGTAACTGC 0.358 8 86 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72620739 72620739 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:72620739C>T uc003hge.2 - 9 1273 c.1120G>A c.(1120-1122)GAA>AAA p.E374K GC_uc003hgd.2_Missense_Mutation_p.E252K|GC_uc010iie.2_Missense_Mutation_p.E374K|GC_uc010iif.2_Missense_Mutation_p.E393K NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 374 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TCACAGCATTCACCAAGGCTT 0.353 27 33 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328221 80328221 + Silent SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:80328221C>G uc003hlu.2 - 1 1152 c.1134G>C c.(1132-1134)GGG>GGC p.G378G NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 378 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 CACAGAGTATCCCTCTTGCAC 0.423 26 66 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126355451 126355451 + Missense_Mutation SNP T A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:126355451T>A uc003ifj.3 + 7 7070 c.7070T>A c.(7069-7071)GTC>GAC p.V2357D FAT4_uc011cgp.1_Missense_Mutation_p.V655D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2357 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTAGATGATGTCAATGACAAT 0.373 27 59 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151765298 151765298 + Missense_Mutation SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:151765298T>C uc010ipj.2 - 28 4997 c.4523A>G c.(4522-4524)CAG>CGG p.Q1508R LRBA_uc003ilt.3_Missense_Mutation_p.Q167R|LRBA_uc003ilu.3_Missense_Mutation_p.Q1508R NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1508 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ATCCATGTCCTGTAGAAGCCT 0.333 47 55 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177650746 177650746 + Nonsense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr4:177650746G>C uc003ius.1 - 2 732 c.302C>G c.(301-303)TCA>TGA p.S101* NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 101 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) TTCTGTCCTTGAGTTGAGGTT 0.373 15 43 --- --- --- --- PASS DAP 1611 broad.mit.edu 37 5 10748327 10748327 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr5:10748327C>G uc003jez.3 - 2 319 c.112G>C c.(112-114)GAA>CAA p.E38Q DAP_uc011cmw.1_Missense_Mutation_p.E38Q NM_004394 NP_004385 P51397 DAP1_HUMAN death-associated protein 38 activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent death domain binding 0 Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804) TCTTTCTCTTCTTTGGTGTCT 0.458 25 62 --- --- --- --- PASS RICTOR 253260 broad.mit.edu 37 5 38950055 38950055 + Missense_Mutation SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr5:38950055T>C uc003jlp.2 - 31 3919 c.3895A>G c.(3895-3897)AGA>GGA p.R1299G RICTOR_uc003jlo.2_Missense_Mutation_p.R1299G|RICTOR_uc010ivf.2_Missense_Mutation_p.R1014G NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1299 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GACTGTGCTCTTCTAGGAAGC 0.438 17 164 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140580260 140580260 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr5:140580260G>A uc003liy.2 + 1 913 c.913G>A c.(913-915)GCA>ACA p.A305T PCDHB11_uc011daj.1_5'UTR NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 305 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACTTTAAGAGCACCTCTGGA 0.363 32 19 --- --- --- --- PASS FAF2 23197 broad.mit.edu 37 5 175933902 175933902 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr5:175933902G>C uc003mej.3 + 11 1342 c.1289G>C c.(1288-1290)GGA>GCA p.G430A NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 430 UBX. response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 CAGGAGGCCGGACTCAGCCAC 0.512 3 46 --- --- --- --- PASS SQSTM1 8878 broad.mit.edu 37 5 179249985 179249985 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr5:179249985C>T uc003mkw.3 + 2 328 c.233C>T c.(232-234)TCC>TTC p.S78F SQSTM1_uc011dgr.1_5'UTR|SQSTM1_uc011dgs.1_5'UTR|SQSTM1_uc003mkv.3_Missense_Mutation_p.S78F|SQSTM1_uc003mkx.2_5'UTR NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 78 OPR.|Interaction with PRKCZ and dimerization (By similarity).|Interaction with PAWR. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTGCCTTTTCCAGTGACGAG 0.517 Paget_Disease_of_Bone 13 2 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56341132 56341132 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:56341132G>C uc003pdf.2 - 86 15350 c.15322C>G c.(15322-15324)CTG>GTG p.L5108V DST_uc003pcz.3_Missense_Mutation_p.L4930V|DST_uc011dxj.1_Missense_Mutation_p.L4959V|DST_uc011dxk.1_Missense_Mutation_p.L4970V|DST_uc003pcy.3_Missense_Mutation_p.L4604V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7016 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) GCCCAGGCCAGCACCTGTCAG 0.383 5 6 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75892986 75892986 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:75892986G>A uc003phs.2 - 10 1837 c.1671C>T c.(1669-1671)TTC>TTT p.F557F COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.F215F NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 557 VWFA 2. 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 CAGGATCTCTGAAAGCATCTG 0.428 71 97 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 94120288 94120288 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:94120288C>T uc003poe.2 - 3 1004 c.763G>A c.(763-765)GAA>AAA p.E255K EPHA7_uc003pof.2_Missense_Mutation_p.E255K|EPHA7_uc011eac.1_Missense_Mutation_p.E255K|EPHA7_uc003pog.3_Missense_Mutation_p.E255K NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 255 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ACTAACCATTCTCCTTCTGCA 0.463 24 38 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129714246 129714246 + Missense_Mutation SNP A G G rs141950826 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:129714246A>G uc003qbn.2 + 37 5396 c.5291A>G c.(5290-5292)GAA>GGA p.E1764G LAMA2_uc003qbo.2_Missense_Mutation_p.E1764G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1764 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCCCGGGGGGAAAATGAAGAA 0.453 25 28 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136589359 136589359 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:136589359G>A uc003qgx.1 - 10 2591 c.2338C>T c.(2338-2340)CAC>TAC p.H780Y BCLAF1_uc011edb.1_Missense_Mutation_p.H108Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H607Y|BCLAF1_uc003qgy.1_Missense_Mutation_p.H778Y|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.H778Y NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 780 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATTTCATGGTGAGTTTTAAAT 0.388 34 108 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151670166 151670166 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:151670166G>A uc011eep.1 + 4 880 c.640G>A c.(640-642)GAC>AAC p.D214N AKAP12_uc003qoe.2_Missense_Mutation_p.D214N|AKAP12_uc003qof.2_Missense_Mutation_p.D116N|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D109N NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 214 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGGGGCTGGCGACCACAAGGA 0.517 33 37 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40134111 40134111 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:40134111C>T uc003thh.3 + 14 4353 c.4071C>T c.(4069-4071)AGC>AGT p.S1357S CDK13_uc003thi.3_Silent_p.S1297S|CDK13_uc003thj.2_Silent_p.S408S|CDK13_uc003thk.2_Silent_p.S290S NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1357 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 GTCTAGGAAGCAGTTCTGCTC 0.433 47 88 --- --- --- --- PASS RUNDC3B 154661 broad.mit.edu 37 7 87329807 87329807 + Missense_Mutation SNP A T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:87329807A>T uc003ujb.2 + 4 771 c.360A>T c.(358-360)AAA>AAT p.K120N ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.K103N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K103N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K103N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.K25N NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 120 RUN. skin(1) 1 Esophageal squamous(14;0.00164) CTTGCCGGAAAGTTTCACAGA 0.378 16 51 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100348836 100348836 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:100348836C>T uc003uwj.2 + 13 1718 c.1553C>T c.(1552-1554)ACG>ATG p.T518M ZAN_uc003uwk.2_Missense_Mutation_p.T518M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 518 MAM 3.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGAAGCAACACGGCCTCTGTG 0.517 11 21 --- --- --- --- PASS COG5 10466 broad.mit.edu 37 7 107204283 107204283 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:107204283G>T uc003ved.2 - 1 677 c.152C>A c.(151-153)GCG>GAG p.A51E COG5_uc003vec.2_Missense_Mutation_p.A51E|COG5_uc003vee.2_Missense_Mutation_p.A51E|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 51 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 AGCTGCAGCCGCTCCAGAGCC 0.662 17 26 --- --- --- --- PASS TAS2R16 50833 broad.mit.edu 37 7 122635238 122635238 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:122635238G>C uc003vkl.1 - 1 517 c.451C>G c.(451-453)CAA>GAA p.Q151E NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 151 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 AACTGAATTTGAATGTAATTC 0.398 17 54 --- --- --- --- PASS C7orf45 136263 broad.mit.edu 37 7 129856090 129856090 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:129856090C>T uc003vpp.2 + 3 562 c.515C>T c.(514-516)TCA>TTA p.S172L NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 172 integral to membrane 0 Melanoma(18;0.0435) CACCACCCATCACCAGACAGT 0.478 27 36 --- --- --- --- PASS TRIM24 8805 broad.mit.edu 37 7 138265404 138265404 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:138265404G>A uc003vuc.2 + 16 2898 c.2683G>A c.(2683-2685)GAA>AAA p.E895K TRIM24_uc003vub.2_Missense_Mutation_p.E861K NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 895 Nuclear localization signal (Potential). cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 AAAGAAAACTGAAGGCCTTGT 0.373 45 65 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140301990 140301990 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:140301990C>T uc010lnj.2 - 1 353 c.208G>A c.(208-210)GGA>AGA p.G70R DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G70R|DENND2A_uc003vvw.2_Missense_Mutation_p.G70R|DENND2A_uc003vvx.2_Missense_Mutation_p.G70R NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 70 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCCTCCTGTCCGTCTGCTCTC 0.547 69 63 --- --- --- --- PASS TAS2R41 259287 broad.mit.edu 37 7 143175246 143175246 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:143175246C>T uc003wdc.1 + 1 281 c.281C>T c.(280-282)TCA>TTA p.S94L uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 94 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) TTCCTGAACTCAGCCACCTTC 0.537 28 38 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41834781 41834781 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:41834781G>A uc010lxb.2 - 8 1652 c.1108C>T c.(1108-1110)CTT>TTT p.L370F MYST3_uc010lxc.2_Missense_Mutation_p.L370F|MYST3_uc003xon.3_Missense_Mutation_p.L370F|MYST3_uc010lxd.2_Missense_Mutation_p.L370F NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 370 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGGCTGGAAAGAGTGATTTTT 0.418 36 44 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48711773 48711773 + Nonsense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:48711773G>C uc003xqi.2 - 73 10352 c.10295C>G c.(10294-10296)TCA>TGA p.S3432* PRKDC_uc003xqj.2_Nonsense_Mutation_p.S3432*|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3432 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAATTCACCTGATGCATTCTC 0.433 NHEJ 18 30 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52233370 52233370 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:52233370C>T uc003xqu.3 - 22 4335 c.4234G>A c.(4234-4236)GAA>AAA p.E1412K PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1412 VWFC. 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) GTGCAGTCTTCTTTCATCCAG 0.512 43 50 --- --- --- --- PASS NPBWR1 2831 broad.mit.edu 37 8 53852511 53852511 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:53852511C>T uc011ldu.1 + 1 44 c.44C>T c.(43-45)TCG>TTG p.S15L NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 15 Extracellular (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCCAACGCATCGGGCCCGGAC 0.711 3 8 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55538285 55538285 + Missense_Mutation SNP T A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:55538285T>A uc003xsd.1 + 4 1991 c.1843T>A c.(1843-1845)TTT>ATT p.F615I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 615 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) TGCAACCCATTTTTCAAGTAA 0.373 6 71 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61655054 61655054 + Missense_Mutation SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:61655054T>C uc003xue.2 + 2 1540 c.1063T>C c.(1063-1065)TCA>CCA p.S355P NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 355 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGGATTCCCATCAAACAGTGG 0.438 19 47 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77745601 77745601 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:77745601G>C uc003yav.2 + 5 3662 c.3275G>C c.(3274-3276)TGT>TCT p.C1092S ZFHX4_uc003yau.1_Missense_Mutation_p.C1118S|ZFHX4_uc003yaw.1_Missense_Mutation_p.C1092S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1092 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) GCCAGGACTTGTGATGATGAT 0.423 HNSCC(33;0.089) 13 6 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141716272 141716272 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:141716272G>A uc003yvu.2 - 24 2405 c.2175C>T c.(2173-2175)TCC>TCT p.S725S PTK2_uc011ljp.1_Silent_p.S33S|PTK2_uc003yvo.2_Silent_p.S353S|PTK2_uc011ljq.1_Silent_p.S420S|PTK2_uc003yvp.2_Silent_p.S393S|PTK2_uc003yvq.2_Silent_p.S251S|PTK2_uc003yvr.2_Silent_p.S665S|PTK2_uc003yvs.2_Silent_p.S725S|PTK2_uc003yvt.2_Silent_p.S747S|PTK2_uc003yvv.2_Silent_p.S625S|PTK2_uc011ljr.1_Silent_p.S725S NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 725 Pro-rich.|Interaction with TGFB1I1. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATCCTTCGCTGGACCTCGGAC 0.403 27 27 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143623493 143623493 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:143623493C>T uc003ywm.2 + 27 4081 c.3898C>T c.(3898-3900)CCC>TCC p.P1300S NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1300 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGGGCCCCTGCCCGACTTCCC 0.652 8 18 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145009237 145009237 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr8:145009237G>A uc003zaf.1 - 8 1348 c.1178C>T c.(1177-1179)TCG>TTG p.S393L PLEC_uc003zab.1_Missense_Mutation_p.S256L|PLEC_uc003zac.1_Missense_Mutation_p.S260L|PLEC_uc003zad.2_Missense_Mutation_p.S256L|PLEC_uc003zae.1_Missense_Mutation_p.S224L|PLEC_uc003zag.1_Missense_Mutation_p.S234L|PLEC_uc003zah.2_Missense_Mutation_p.S242L|PLEC_uc003zaj.2_Missense_Mutation_p.S283L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 393 CH 2.|Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ATACAGCGACGAGACGTAGGT 0.687 34 57 --- --- --- --- PASS DMRT3 58524 broad.mit.edu 37 9 990681 990681 + Silent SNP A C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:990681A>C uc003zgw.1 + 2 1133 c.1095A>C c.(1093-1095)CCA>CCC p.P365P NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 365 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TCCCCCAGCCACCCCGGTACC 0.597 11 62 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C A A rs121913381 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:21971036C>A uc003zpk.2 - 2 534 c.322G>T c.(322-324)GAT>TAT p.D108Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). 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.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(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) CCCCAGGCATCGCGCACGTCC 0.741 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) 19 2 --- --- --- --- PASS HIATL1 84641 broad.mit.edu 37 9 97207434 97207434 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:97207434G>A uc004aur.2 + 6 968 c.699G>A c.(697-699)CAG>CAA p.Q233Q HIATL1_uc011luh.1_Silent_p.Q168Q NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 233 Extracellular (Potential). transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) GGGGAGCTCAGATTTCTTGGA 0.423 10 18 --- --- --- --- PASS OR13C9 286362 broad.mit.edu 37 9 107379799 107379799 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:107379799G>C uc011lvr.1 - 1 687 c.687C>G c.(685-687)CAC>CAG p.H229Q NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTCAGAGGAGTGAATCTTGA 0.433 30 41 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109688263 109688263 + Silent SNP G A A rs147884090 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:109688263G>A uc004bcz.2 + 3 2359 c.2070G>A c.(2068-2070)GTG>GTA p.V690V ZNF462_uc010mto.2_Silent_p.V538V|ZNF462_uc004bda.2_Silent_p.V538V NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 690 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TGTCACCCGTGAAGAAGAGAA 0.433 61 93 --- --- --- --- PASS C9orf91 203197 broad.mit.edu 37 9 117400911 117400911 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:117400911G>A uc004bjd.3 + 8 971 c.754G>A c.(754-756)GAG>AAG p.E252K C9orf91_uc004bje.3_Missense_Mutation_p.E231K|C9orf91_uc004bjf.3_Missense_Mutation_p.E151K NM_153045 NP_694590 Q5VZI3 CI091_HUMAN hypothetical protein LOC203197 252 integral to membrane pancreas(1) 1 TGAGAACTTGGAGGATGCTCC 0.557 23 28 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117827085 117827085 + Missense_Mutation SNP C T T rs141417605 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:117827085C>T uc004bjj.3 - 11 3690 c.3328G>A c.(3328-3330)GAG>AAG p.E1110K TNC_uc010mvf.2_Missense_Mutation_p.E1110K NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1110 Fibronectin type-III 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TTGTTGGCCTCCTGCACCTGA 0.592 17 70 --- --- --- --- PASS RABEPK 10244 broad.mit.edu 37 9 127995969 127995969 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:127995969G>C uc004bpi.2 + 9 1002 c.829G>C c.(829-831)GAG>CAG p.E277Q RABEPK_uc004bpj.2_Missense_Mutation_p.E226Q|RABEPK_uc004bpk.2_Missense_Mutation_p.E277Q|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E277Q NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 277 Kelch 5. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 CAACATAGAAGAGCAGCATTG 0.328 73 118 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133927932 133927932 + Missense_Mutation SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:133927932T>C uc004caa.1 + 10 1783 c.1685T>C c.(1684-1686)TTC>TCC p.F562S NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 562 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ATACTGACCTTCCGGGTGCCC 0.597 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 --- --- --- --- PASS PMPCA 23203 broad.mit.edu 37 9 139311436 139311436 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:139311436C>T uc004chl.2 + 7 672 c.667C>T c.(667-669)CGT>TGT p.R223C PMPCA_uc010nbl.2_Missense_Mutation_p.R123C|PMPCA_uc011mdz.1_Missense_Mutation_p.R92C|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 223 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGGCCTCCACCGTTTCTGCCC 0.562 10 11 --- --- --- --- PASS ENTPD2 954 broad.mit.edu 37 9 139946697 139946697 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:139946697G>C uc004ckw.1 - 2 277 c.221C>G c.(220-222)TCC>TGC p.S74C ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.S74C NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 74 Extracellular (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AACATCACAGGAGCTGTGCTG 0.607 37 32 --- --- --- --- PASS PNPLA7 375775 broad.mit.edu 37 9 140437924 140437924 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:140437924G>A uc004cnf.2 - 5 728 c.391C>T c.(391-393)CAC>TAC p.H131Y PNPLA7_uc010ncj.1_Missense_Mutation_p.H156Y NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 131 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GATGGCAGGTGAGAATTCTTC 0.612 34 42 --- --- --- --- PASS EHMT1 79813 broad.mit.edu 37 9 140611570 140611570 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr9:140611570C>A uc011mfc.1 + 3 615 c.578C>A c.(577-579)GCC>GAC p.A193D EHMT1_uc004coa.2_Missense_Mutation_p.A193D|EHMT1_uc004cob.1_Missense_Mutation_p.A162D NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 193 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) AAGCTCCCGGCCCCTGGCGCC 0.622 13 39 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1405757 1405757 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:1405757C>A uc009xhq.2 - 3 917 c.543G>T c.(541-543)GCG>GCT p.A181A NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 181 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCAGCTCCGCCGCGCGCATCT 0.607 12 2 --- --- --- --- PASS USP6NL 9712 broad.mit.edu 37 10 11504812 11504812 + Silent SNP A T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:11504812A>T uc001ikt.3 - 15 2436 c.2115T>A c.(2113-2115)ACT>ACA p.T705T USP6NL_uc001iks.1_Silent_p.T722T NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 705 intracellular Rab GTPase activator activity 0 CCCCAGCACCAGTGTCAACAG 0.493 8 7 --- --- --- --- PASS ABI1 10006 broad.mit.edu 37 10 27040691 27040691 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:27040691G>A uc001isx.2 - 11 1354 c.1187C>T c.(1186-1188)CCG>CTG p.P396L ABI1_uc001ite.2_Missense_Mutation_p.P334L|ABI1_uc010qdh.1_Missense_Mutation_p.P276L|ABI1_uc010qdi.1_Missense_Mutation_p.P217L|ABI1_uc001isy.2_Missense_Mutation_p.P369L|ABI1_uc001ita.2_Missense_Mutation_p.P340L|ABI1_uc001isz.2_Missense_Mutation_p.P364L|ABI1_uc001itb.2_Missense_Mutation_p.P384L|ABI1_uc001itc.2_Missense_Mutation_p.P368L|ABI1_uc010qdj.1_Missense_Mutation_p.P310L|ABI1_uc001itd.2_Missense_Mutation_p.P339L|ABI1_uc010qdk.1_Missense_Mutation_p.P281L|ABI1_uc010qdg.1_Missense_Mutation_p.P206L NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 396 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 AGGTGGTGGCGGTGGAGTTGG 0.418 4 5 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38403713 38403713 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:38403713G>T uc001izk.2 + 6 865 c.46G>T c.(46-48)GGC>TGC p.G16C ZNF37A_uc001izl.2_Missense_Mutation_p.G16C|ZNF37A_uc001izm.2_Missense_Mutation_p.G16C NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 16 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TGTGACTGTGGGCTTCACTCA 0.478 37 37 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43088334 43088334 + Silent SNP C G G rs149979023 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:43088334C>G uc001jaf.1 - 5 2179 c.2064G>C c.(2062-2064)ACG>ACC p.T688T ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.T576T|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 688 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTTTCTCCCCCGTGTGCTTTC 0.408 20 80 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98823308 98823308 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:98823308G>C uc001kmw.2 - 8 949 c.697C>G c.(697-699)CGG>GGG p.R233G SLIT1_uc009xvh.1_Missense_Mutation_p.R233G NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 233 LRRCT 1. 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) ATGGTTGGCCGCTGCCTCAGC 0.632 12 1 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108448054 108448054 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:108448054C>A uc001kym.2 - 10 1464 c.1456G>T c.(1456-1458)GAC>TAC p.D486Y SORCS1_uc001kyl.2_Missense_Mutation_p.D486Y|SORCS1_uc009xxs.2_Missense_Mutation_p.D486Y|SORCS1_uc001kyn.1_Missense_Mutation_p.D486Y|SORCS1_uc001kyo.2_Missense_Mutation_p.D486Y NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 486 Lumenal (Potential). 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) ACTTGGTTGTCAATCTTCTTG 0.448 24 6 --- --- --- --- PASS CHID1 66005 broad.mit.edu 37 11 904721 904721 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:904721C>A uc001lsl.2 - 2 257 c.96G>T c.(94-96)AAG>AAT p.K32N CHID1_uc010qwu.1_Missense_Mutation_p.K62N|CHID1_uc010qwv.1_Missense_Mutation_p.K93N|CHID1_uc001lsn.2_Missense_Mutation_p.K32N|CHID1_uc001lsm.2_Missense_Mutation_p.K32N|CHID1_uc001lso.2_Missense_Mutation_p.K32N|CHID1_uc001lsp.2_Missense_Mutation_p.K32N|CHID1_uc010qww.1_Missense_Mutation_p.K32N NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 isoform a 32 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCAGCAGCGTCTTTGAGGCGG 0.567 26 7 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1265993 1265993 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:1265993G>T uc009ycr.1 + 48 9923 c.9797G>T c.(9796-9798)CGC>CTC p.R3266L MUC5B_uc001ltb.2_Missense_Mutation_p.R2631L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2628 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACGCACGCTTCCA 0.642 4 63 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1265997 1265997 + Silent SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:1265997G>T uc009ycr.1 + 48 9927 c.9801G>T c.(9799-9801)ACG>ACT p.T3267T MUC5B_uc001ltb.2_Silent_p.T2632T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2629 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGCACGCACGCTTCCAGTGT 0.637 4 56 --- --- --- --- PASS RNF141 50862 broad.mit.edu 37 11 10546918 10546918 + Missense_Mutation SNP A C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:10546918A>C uc001mis.1 - 4 408 c.255T>G c.(253-255)ATT>ATG p.I85M RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Missense_Mutation_p.I85M NM_016422 NP_057506 Q8WVD5 RN141_HUMAN ring finger protein 141 85 zinc ion binding 0 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) TGCTTTTGTTAATCTAAAAAT 0.338 4 19 --- --- --- --- PASS DBX1 120237 broad.mit.edu 37 11 20181580 20181580 + Silent SNP A C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:20181580A>C uc001mpw.1 - 1 291 c.291T>G c.(289-291)ACT>ACG p.T97T NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 97 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGGAGAAGGCAGTCGGCGGAG 0.706 3 1 --- --- --- --- PASS CRY2 1408 broad.mit.edu 37 11 45891638 45891638 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:45891638G>T uc010rgn.1 + 8 1314 c.1292G>T c.(1291-1293)AGC>ATC p.S431I CRY2_uc009ykw.2_Missense_Mutation_p.S349I|CRY2_uc010rgo.1_Missense_Mutation_p.S153I NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 410 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 GCAGATTTCAGCGTGAACGCA 0.562 3 51 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418397 55418397 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:55418397C>A uc001nhs.1 + 1 18 c.18C>A c.(16-18)AAC>AAA p.N6K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AAATAAACAACGTAACTGAAT 0.313 14 62 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761490 55761490 + Silent SNP A T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:55761490A>T uc010riv.1 - 1 612 c.612T>A c.(610-612)GGT>GGA p.G204G NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CAATATTCACACCAGCCAAAA 0.463 12 17 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62294836 62294836 + Silent SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:62294836G>T uc001ntl.2 - 5 7353 c.7053C>A c.(7051-7053)CCC>CCA p.P2351P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2351 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CATCTAATTTGGGACCTTTGA 0.433 42 102 --- --- --- --- PASS HRASLS5 117245 broad.mit.edu 37 11 63233629 63233629 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:63233629C>T uc001nwy.2 - 5 874 c.700G>A c.(700-702)GAG>AAG p.E234K HRASLS5_uc001nwz.2_Missense_Mutation_p.E224K|HRASLS5_uc010rmq.1_Intron|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 234 ovary(1) 1 ACAAAGTGCTCACAGTTCCCT 0.517 27 25 --- --- --- --- PASS FRMD8 83786 broad.mit.edu 37 11 65167257 65167257 + Missense_Mutation SNP A G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:65167257A>G uc001odu.3 + 8 1046 c.854A>G c.(853-855)CAC>CGC p.H285R FRMD8_uc009yqj.2_Missense_Mutation_p.H229R|FRMD8_uc010rof.1_Missense_Mutation_p.H251R NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 285 FERM. cytoskeleton binding lung(1)|pancreas(1) 2 GGCTTTTTGCACCGGGGTGGG 0.627 12 27 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65392009 65392009 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr11:65392009G>C uc001oey.2 + 15 2784 c.2784G>C c.(2782-2784)ATG>ATC p.M928I PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 928 integral to membrane 0 CCTGCCTCATGTACCTGCTGG 0.642 2 1 --- --- --- --- PASS SLC6A12 6539 broad.mit.edu 37 12 302493 302493 + Missense_Mutation SNP A G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:302493A>G uc001qhz.2 - 15 2023 c.1480T>C c.(1480-1482)TGG>CGG p.W494R SLC6A12_uc001qhx.2_Missense_Mutation_p.W151R|SLC6A12_uc001qhy.2_Missense_Mutation_p.W50R|SLC6A12_uc001qia.2_Missense_Mutation_p.W494R|SLC6A12_uc001qib.2_Missense_Mutation_p.W494R|SLC6A12_uc009zdh.1_Missense_Mutation_p.W494R NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 494 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ACCAGGGGCCATGGCCGGTAG 0.592 85 47 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 344277 344277 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:344277G>C uc001qic.1 - 7 863 c.810C>G c.(808-810)CTC>CTG p.L270L SLC6A13_uc009zdj.1_Silent_p.L270L|SLC6A13_uc010sdl.1_Silent_p.L178L|SLC6A13_uc010sdm.1_Silent_p.L151L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 270 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ACAGACGCGTGAGGTTTGGGT 0.572 11 102 --- --- --- --- PASS FAM90A1 55138 broad.mit.edu 37 12 8374448 8374448 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:8374448G>C uc001qui.2 - 7 1924 c.1365C>G c.(1363-1365)TCC>TCG p.S455S FAM90A1_uc001quh.2_Silent_p.S455S NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 455 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TGTCCTCTGAGGAGGAGGGAA 0.607 6 117 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 8994045 8994045 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:8994045C>T uc001quz.3 + 11 1259 c.1161C>T c.(1159-1161)TTC>TTT p.F387F A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 231 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ATGGAACCTTCAACCAGACCC 0.463 97 63 --- --- --- --- PASS KLRC3 3823 broad.mit.edu 37 12 10569292 10569292 + Silent SNP T A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:10569292T>A uc001qyf.2 - 5 606 c.561A>T c.(559-561)ACA>ACT p.T187T KLRC3_uc001qyh.2_Silent_p.T187T|KLRC3_uc001qyi.1_Silent_p.T187T NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 187 C-type lectin.|Extracellular (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 AACCATTTATTGTCACCCATG 0.303 26 75 --- --- --- --- PASS ETV6 2120 broad.mit.edu 37 12 11992157 11992157 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:11992157G>A uc001qzz.2 + 3 521 c.247G>A c.(247-249)GAC>AAC p.D83N NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 83 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) AAGGCCAATTGACAGCAACAC 0.488 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 60 42 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20807117 20807117 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:20807117C>A uc001reh.1 + 15 3184 c.3162C>A c.(3160-3162)ACC>ACA p.T1054T NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 1054 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AAGAGGAAACCTGTGAAAATA 0.398 4 75 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40728879 40728879 + Silent SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:40728879T>C uc001rmg.3 + 40 5989 c.5868T>C c.(5866-5868)GAT>GAC p.D1956D LRRK2_uc009zjw.2_Silent_p.D794D|LRRK2_uc001rmi.2_Silent_p.D789D NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1956 Protein kinase. 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) GTTCCTTGGATCGCCTGCTTC 0.527 13 102 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42858569 42858569 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:42858569C>G uc010skv.1 - 7 1554 c.1267G>C c.(1267-1269)GGT>CGT p.G423R PRICKLE1_uc001rnl.2_Missense_Mutation_p.G423R|PRICKLE1_uc010skw.1_Missense_Mutation_p.G423R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.G423R NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 423 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) CTTTTATCACCAAACTTGAGG 0.433 13 57 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49434376 49434376 + Nonsense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:49434376C>A uc001rta.3 - 31 7177 c.7177G>T c.(7177-7179)GAG>TAG p.E2393* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2393 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAGCAGCTCTCAGGGGGCGGA 0.632 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 18 6 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57600359 57600359 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:57600359G>C uc001snd.2 + 76 12160 c.11694G>C c.(11692-11694)GAG>GAC p.E3898D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3898 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGGTGACGAGAGTGTCCGCA 0.587 7 42 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85695041 85695041 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:85695041C>G uc001tae.3 + 4 773 c.769C>G c.(769-771)CGG>GGG p.R257G NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 257 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TCACTCGCCTCGGACAGATTC 0.483 31 33 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104156178 104156178 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:104156178G>A uc001tjw.2 + 67 7672 c.7486G>A c.(7486-7488)GAG>AAG p.E2496K STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2496 Cytoplasmic (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCAGCATTTTGAGGTAAGAGA 0.527 10 28 --- --- --- --- PASS NUAK1 9891 broad.mit.edu 37 12 106461045 106461045 + Silent SNP C A A rs138538652 byFrequency TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:106461045C>A uc001tlj.1 - 7 2901 c.1521G>T c.(1519-1521)CCG>CCT p.P507P NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 507 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TGGCTGGGTCCGGGGGGCTGG 0.602 34 18 --- --- --- --- PASS UBE3B 89910 broad.mit.edu 37 12 109949053 109949053 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:109949053G>A uc001top.2 + 18 2504 c.1901G>A c.(1900-1902)AGA>AAA p.R634K UBE3B_uc001toq.2_Missense_Mutation_p.R634K|UBE3B_uc001tos.2_Missense_Mutation_p.R61K|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R634K NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 634 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GACAGGGACAGAAAACGGGCA 0.483 10 23 --- --- --- --- PASS C12orf65 91574 broad.mit.edu 37 12 123741366 123741366 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:123741366C>G uc001uen.2 + 3 555 c.289C>G c.(289-291)CAG>GAG p.Q97E C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Missense_Mutation_p.Q97E NM_152269 NP_689482 Q9H3J6 CL065_HUMAN hypothetical protein LOC91574 97 mitochondrion translation release factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199) ACAGTGCCATCAGACAAGATC 0.234 24 25 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126128684 126128684 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr12:126128684G>C uc001uhe.1 + 6 1493 c.1485G>C c.(1483-1485)ACG>ACC p.T495T TMEM132B_uc001uhf.1_Silent_p.T7T NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 495 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGTGGACACGATTGTGAACT 0.502 21 42 --- --- --- --- PASS CENPJ 55835 broad.mit.edu 37 13 25466857 25466857 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:25466857C>G uc001upt.3 - 10 3393 c.3140G>C c.(3139-3141)AGA>ACA p.R1047T CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R81T NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 1047 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAGTCGGAATCTTTCCATCAC 0.512 29 50 --- --- --- --- PASS CENPJ 55835 broad.mit.edu 37 13 25466876 25466876 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:25466876C>G uc001upt.3 - 10 3374 c.3121G>C c.(3121-3123)GAA>CAA p.E1041Q CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.E75Q NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 1041 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) ACTTTTATTTCTTCCCGGAGG 0.473 33 48 --- --- --- --- PASS KL 9365 broad.mit.edu 37 13 33591349 33591349 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:33591349C>G uc001uus.2 + 1 779 c.771C>G c.(769-771)ATC>ATG p.I257M KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 257 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCCCCGGCATCCGGGGCAGCC 0.716 4 4 --- --- --- --- PASS KBTBD6 89890 broad.mit.edu 37 13 41704624 41704624 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:41704624C>T uc001uxu.1 - 1 2313 c.2024G>A c.(2023-2025)TGA>TAA p.*675* KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.*609*|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 675 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) CTGTGCATTTCACTGAGGCGC 0.388 6 14 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53422512 53422512 + Silent SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:53422512G>T uc001vhi.2 - 1 263 c.60C>A c.(58-60)CTC>CTA p.L20L PCDH8_uc001vhj.2_Silent_p.L20L NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 20 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCACCCAGCAGAGGCTGAAGA 0.622 17 26 --- --- --- --- PASS TDRD3 81550 broad.mit.edu 37 13 61084796 61084796 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr13:61084796G>C uc001via.2 + 10 1557 c.769G>C c.(769-771)GAA>CAA p.E257Q TDRD3_uc010aef.2_Missense_Mutation_p.E82Q|TDRD3_uc001vhz.3_Missense_Mutation_p.E257Q|TDRD3_uc010aeg.2_Missense_Mutation_p.E350Q|TDRD3_uc001vib.3_Missense_Mutation_p.E256Q NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 257 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AATAAGATCTGAAGATGAAGA 0.368 13 17 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56096779 56096779 + Silent SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr14:56096779T>C uc001xcb.2 + 8 1487 c.1185T>C c.(1183-1185)CAT>CAC p.H395H KTN1_uc001xce.2_Silent_p.H395H|KTN1_uc001xcc.2_Silent_p.H395H|KTN1_uc001xcd.2_Silent_p.H395H|KTN1_uc010trb.1_Silent_p.H395H|KTN1_uc001xcf.1_Silent_p.H395H NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 395 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 ACAAAATACATGTCAGTTATC 0.284 T RET papillary thryoid 24 38 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C T T rs2983776 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr14:106237582C>T uc010tyt.1 - 3611 c.57301G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA Parts of antibodies, mostly variable regions. 0 GTAGGACAGCCGGGAAGGTGT 0.637 3 21 --- --- --- --- PASS OTUD7A 161725 broad.mit.edu 37 15 31862290 31862290 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr15:31862290C>G uc001zfq.2 - 2 355 c.262G>C c.(262-264)GAG>CAG p.E88Q OTUD7A_uc001zfr.2_Missense_Mutation_p.E88Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.E88Q NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 88 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGCTCTCGCTCTGGCTGCTTG 0.637 15 9 --- --- --- --- PASS SLTM 79811 broad.mit.edu 37 15 59224582 59224582 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr15:59224582G>C uc002afp.2 - 2 311 c.223C>G c.(223-225)CCA>GCA p.P75A SLTM_uc002afo.2_Missense_Mutation_p.P75A|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.P75A NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 75 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTCTTGTTTGGAGTATCAGTT 0.343 50 70 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62261510 62261510 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr15:62261510G>A uc002agz.2 - 28 2973 c.2899C>T c.(2899-2901)CAT>TAT p.H967Y VPS13C_uc002aha.2_Missense_Mutation_p.H924Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H967Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H924Y NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 967 protein localization ovary(2) 2 TCAATTTCATGATAATCCAAG 0.269 17 18 --- --- --- --- PASS UBL7 84993 broad.mit.edu 37 15 74751086 74751086 + Silent SNP T A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr15:74751086T>A uc002axw.1 - 2 285 c.123A>T c.(121-123)TCA>TCT p.S41S UBL7_uc002axx.1_Silent_p.S81S|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.S41S|UBL7_uc002axz.1_Silent_p.S41S|uc002aya.2_5'Flank|uc002ayb.2_5'Flank NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 41 Ubiquitin-like. protein binding ovary(1) 1 GCTTCAGAAATGAAATACTAT 0.517 44 90 --- --- --- --- PASS ITFG3 83986 broad.mit.edu 37 16 312511 312511 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:312511G>A uc002cgf.2 + 8 1125 c.930G>A c.(928-930)GAG>GAA p.E310E ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Silent_p.E310E|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.E310E NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 310 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) CGCACTGGGAGAGCATGCTCA 0.632 11 30 --- --- --- --- PASS E4F1 1877 broad.mit.edu 37 16 2282359 2282359 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:2282359C>G uc002cpm.2 + 4 651 c.603C>G c.(601-603)TTC>TTG p.F201L E4F1_uc010bsi.2_Missense_Mutation_p.F201L|E4F1_uc010bsj.2_Missense_Mutation_p.F201L NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 201 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.|C2H2-type 1. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 ACAAGACCTTCAAGACGGTGA 0.687 2 8 --- --- --- --- PASS AMDHD2 51005 broad.mit.edu 37 16 2577777 2577777 + Missense_Mutation SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:2577777T>C uc002cqq.2 + 5 516 c.419T>C c.(418-420)CTG>CCG p.L140P AMDHD2_uc002cqp.2_Missense_Mutation_p.L140P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L140P|AMDHD2_uc010uwd.1_5'UTR NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 140 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 CTCCCAGGGCTGCACCTGGAG 0.711 3 5 --- --- --- --- PASS AMDHD2 51005 broad.mit.edu 37 16 2577778 2577778 + Silent SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:2577778G>T uc002cqq.2 + 5 517 c.420G>T c.(418-420)CTG>CTT p.L140L AMDHD2_uc002cqp.2_Silent_p.L140L|AMDHD2_uc010uwc.1_Silent_p.L140L|AMDHD2_uc010uwd.1_5'UTR NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 140 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 TCCCAGGGCTGCACCTGGAGG 0.706 4 5 --- --- --- --- PASS FAM86A 196483 broad.mit.edu 37 16 5143501 5143501 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:5143501G>A uc002cyo.2 - 3 273 c.224C>T c.(223-225)TCA>TTA p.S75L FAM86A_uc002cyp.2_Missense_Mutation_p.S75L NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 75 0 GATGAGTTCTGAGAGAAAGCA 0.493 5 18 --- --- --- --- PASS FAM86A 196483 broad.mit.edu 37 16 5143509 5143509 + Nonsense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:5143509G>T uc002cyo.2 - 3 265 c.216C>A c.(214-216)TGC>TGA p.C72* FAM86A_uc002cyp.2_Nonsense_Mutation_p.C72* NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 72 0 CTGAGAGAAAGCACCGGGCAT 0.512 5 17 --- --- --- --- PASS NOMO2 283820 broad.mit.edu 37 16 18549903 18549903 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:18549903C>A uc002dfe.2 - 11 1237 c.1165G>T c.(1165-1167)GTC>TTC p.V389F NOMO2_uc002dff.2_Missense_Mutation_p.V389F|NOMO2_uc010bvx.2_Missense_Mutation_p.V222F NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN nodal modulator 2 isoform 1 389 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding skin(1) 1 TTGATGGTGACCGTTTCAAAG 0.458 34 52 --- --- --- --- PASS NOMO2 283820 broad.mit.edu 37 16 18549904 18549904 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:18549904C>A uc002dfe.2 - 11 1236 c.1164G>T c.(1162-1164)ACG>ACT p.T388T NOMO2_uc002dff.2_Silent_p.T388T|NOMO2_uc010bvx.2_Silent_p.T221T NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN nodal modulator 2 isoform 1 388 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding skin(1) 1 TGATGGTGACCGTTTCAAAGT 0.453 33 52 --- --- --- --- PASS ACSM3 6296 broad.mit.edu 37 16 20807807 20807807 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:20807807G>A uc002dhr.2 + 13 1857 c.1670G>A c.(1669-1671)AGA>AAA p.R557K ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Missense_Mutation_p.R586K|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 557 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 AAATATCCCAGAAAGGTAGGC 0.323 21 40 --- --- --- --- PASS RNF40 9810 broad.mit.edu 37 16 30777492 30777492 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:30777492G>A uc002dzq.2 + 9 1125 c.1002G>A c.(1000-1002)ATG>ATA p.M334I RNF40_uc010caa.2_Missense_Mutation_p.M334I|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.M334I|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 334 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) AGTTTGAGATGCTGAATGCAG 0.592 25 44 --- --- --- --- PASS BBS2 583 broad.mit.edu 37 16 56548503 56548503 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:56548503G>C uc002ejd.2 - 2 441 c.207C>G c.(205-207)CTC>CTG p.L69L BBS2_uc010ccg.2_Silent_p.L69L NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 69 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 GGTTAATGCTGAGAAGAGAAA 0.468 Bardet-Biedl_syndrome 13 37 --- --- --- --- PASS ATMIN 23300 broad.mit.edu 37 16 81078461 81078461 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:81078461G>A uc002ffz.1 + 4 2376 c.2358G>A c.(2356-2358)CAG>CAA p.Q786Q ATMIN_uc002fga.2_Silent_p.Q628Q|ATMIN_uc010vnn.1_Silent_p.Q557Q|ATMIN_uc002fgb.1_Silent_p.Q628Q NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 786 response to DNA damage stimulus nucleus zinc ion binding 0 ACGAAACTCAGACAGCAATGG 0.483 16 31 --- --- --- --- PASS KIAA0182 23199 broad.mit.edu 37 16 85699825 85699825 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:85699825C>T uc002fix.2 + 13 3076 c.3002C>T c.(3001-3003)CCT>CTT p.P1001L KIAA0182_uc002fiw.2_Missense_Mutation_p.P897L|KIAA0182_uc002fiy.2_Missense_Mutation_p.P928L|KIAA0182_uc002fiz.2_Missense_Mutation_p.P143L|KIAA0182_uc010cho.2_Missense_Mutation_p.P181L NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 1001 protein binding large_intestine(3)|ovary(1)|skin(1) 5 AAGGACATTCCTGTGCCGCTG 0.602 6 10 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89348930 89348930 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:89348930G>C uc002fmx.1 - 9 4481 c.4020C>G c.(4018-4020)CTC>CTG p.L1340L ANKRD11_uc002fmy.1_Silent_p.L1340L|ANKRD11_uc002fnc.1_Silent_p.L1340L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1297L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1340 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCTTCTCAGGGAGGCAGGCGC 0.602 7 44 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89813023 89813023 + Missense_Mutation SNP G A A rs142833057 by1000genomes TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr16:89813023G>A uc002fou.1 - 35 3524 c.3482C>T c.(3481-3483)ACG>ATG p.T1161M FANCA_uc010vpn.1_Missense_Mutation_p.T1161M|FANCA_uc010vpo.1_Missense_Mutation_p.T247M NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1161 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGGGCATTTCGTCTGGCACTT 0.567 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 21 19 --- --- --- --- PASS VPS53 55275 broad.mit.edu 37 17 526854 526854 + Silent SNP A C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:526854A>C uc002frn.2 - 11 1182 c.1035T>G c.(1033-1035)CTT>CTG p.L345L VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.L345L|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.L316L|VPS53_uc002fro.2_Silent_p.L147L|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 345 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GAATAGCAAAAAGAAGCAATT 0.438 6 59 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1582619 1582619 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:1582619G>C uc002fte.2 - 10 1489 c.1375C>G c.(1375-1377)CTG>GTG p.L459V NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 459 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CGATGCTTCAGGGCATTCAGC 0.537 32 42 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C A A rs121912654 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (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.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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) ATGGCGCGGACGCGGGTGCCG 0.617 111 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) 22 8 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10357999 10357999 + Missense_Mutation SNP T A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:10357999T>A uc002gmn.2 - 22 2675 c.2564A>T c.(2563-2565)AAC>ATC p.N855I uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 855 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTCCTTCATGTTGGCCATCTC 0.443 7 80 --- --- --- --- PASS FOXN1 8456 broad.mit.edu 37 17 26861727 26861727 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:26861727G>A uc010crm.2 + 8 1336 c.1138G>A c.(1138-1140)GAG>AAG p.E380K FOXN1_uc002hbj.2_Missense_Mutation_p.E380K NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 380 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CCTTTCAGAAGAGCTGGACAG 0.607 3 12 --- --- --- --- PASS SLFN12 55106 broad.mit.edu 37 17 33749256 33749256 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:33749256G>A uc002hji.3 - 2 1169 c.792C>T c.(790-792)ATC>ATT p.I264I SLFN12_uc002hjj.3_Silent_p.I264I|SLFN12_uc010cts.2_Silent_p.I264I NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 264 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGACTTTTCGATTTCTCTTT 0.343 24 83 --- --- --- --- PASS CDK12 51755 broad.mit.edu 37 17 37627431 37627431 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:37627431G>C uc010cvv.2 + 2 1932 c.1346G>C c.(1345-1347)AGA>ACA p.R449T CDK12_uc010wef.1_Missense_Mutation_p.R448T|CDK12_uc002hrw.3_Missense_Mutation_p.R449T NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 449 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 AAGTTACCCAGAAGTGTAAAA 0.388 TCGA Ovarian(9;0.13) 20 54 --- --- --- --- PASS CDK12 51755 broad.mit.edu 37 17 37627496 37627496 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:37627496G>C uc010cvv.2 + 2 1997 c.1411G>C c.(1411-1413)GAG>CAG p.E471Q CDK12_uc010wef.1_Missense_Mutation_p.E470Q|CDK12_uc002hrw.3_Missense_Mutation_p.E471Q NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 471 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 TCTAAACACAGAGGTAAAAAA 0.373 TCGA Ovarian(9;0.13) 27 75 --- --- --- --- PASS EME1 146956 broad.mit.edu 37 17 48456522 48456522 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:48456522G>A uc002iqs.1 + 6 1240 c.1167G>A c.(1165-1167)AAG>AAA p.K389K EME1_uc010dbp.1_Silent_p.K402K|EME1_uc010dbq.1_5'Flank NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 389 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) AGACCAAGAAGCAGCAGCAGA 0.527 Direct_reversal_of_damage|Homologous_recombination 21 30 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48674006 48674006 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:48674006C>T uc002irk.1 + 15 3435 c.3063C>T c.(3061-3063)GCC>GCT p.A1021A CACNA1G_uc002iri.1_Silent_p.A1021A|CACNA1G_uc002irj.1_Silent_p.A998A|CACNA1G_uc002irl.1_Silent_p.A998A|CACNA1G_uc002irm.1_Silent_p.A998A|CACNA1G_uc002irn.1_Silent_p.A998A|CACNA1G_uc002iro.1_Silent_p.A998A|CACNA1G_uc002irp.1_Silent_p.A1021A|CACNA1G_uc002irq.1_Silent_p.A998A|CACNA1G_uc002irr.1_Silent_p.A1021A|CACNA1G_uc002irs.1_Silent_p.A1021A|CACNA1G_uc002irt.1_Silent_p.A1021A|CACNA1G_uc002irv.1_Silent_p.A1021A|CACNA1G_uc002irw.1_Silent_p.A998A|CACNA1G_uc002iru.1_Silent_p.A998A|CACNA1G_uc002irx.1_Silent_p.A934A|CACNA1G_uc002iry.1_Silent_p.A934A|CACNA1G_uc002irz.1_Silent_p.A934A|CACNA1G_uc002isa.1_Silent_p.A934A|CACNA1G_uc002isb.1_Silent_p.A934A|CACNA1G_uc002isc.1_Silent_p.A934A|CACNA1G_uc002isd.1_Silent_p.A934A|CACNA1G_uc002ise.1_Silent_p.A934A|CACNA1G_uc002isf.1_Silent_p.A934A|CACNA1G_uc002isg.1_Silent_p.A934A|CACNA1G_uc002ish.1_Silent_p.A934A|CACNA1G_uc002isi.1_Silent_p.A911A|CACNA1G_uc002isj.2_5'Flank NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1021 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGTGCTTGGCCTGTGAGTACC 0.607 11 15 --- --- --- --- PASS NACA2 342538 broad.mit.edu 37 17 59668329 59668329 + Silent SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:59668329C>G uc002izj.2 - 1 239 c.213G>C c.(211-213)CGG>CGC p.R71R NM_199290 NP_954984 Q9H009 NACA2_HUMAN nascent-polypeptide-associated complex alpha 71 NAC-A/B. protein transport cytoplasm|nucleus ovary(1) 1 all_epithelial(1;3.12e-14) TCTTTTCACTCCGACTCTGTT 0.463 75 128 --- --- --- --- PASS CACNG5 27091 broad.mit.edu 37 17 64876810 64876810 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:64876810C>A uc010wqi.1 + 4 657 c.420C>A c.(418-420)CTC>CTA p.L140L CACNG5_uc002jfr.2_Silent_p.L140L|CACNG5_uc010wqj.1_Silent_p.L140L NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 140 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TCTTTATCCTCTCAGGTAAGT 0.328 45 83 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67160274 67160274 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr17:67160274C>A uc010dfa.1 - 28 4183 c.3304G>T c.(3304-3306)GAC>TAC p.D1102Y ABCA10_uc010wqs.1_Missense_Mutation_p.D94Y|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1102 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TCCAGACTGTCCAAGTTTCTC 0.279 4 33 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3116506 3116506 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:3116506C>T uc002klp.2 - 21 3460 c.3126G>A c.(3124-3126)CCG>CCA p.P1042P MYOM1_uc002klq.2_Silent_p.P946P NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1042 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TGAGACTGTGCGGTGGTCCTG 0.498 6 16 --- --- --- --- PASS PSMA8 143471 broad.mit.edu 37 18 23759082 23759082 + Silent SNP T C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:23759082T>C uc002kvq.2 + 6 780 c.666T>C c.(664-666)AAT>AAC p.N222N PSMA8_uc002kvo.2_Silent_p.N178N|PSMA8_uc002kvp.2_Silent_p.N216N|PSMA8_uc002kvr.2_Silent_p.N190N NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 222 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) TAAGAAGAAATCAACCTTTGA 0.318 60 12 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28914040 28914040 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:28914040G>C uc002kwp.2 + 8 1092 c.880G>C c.(880-882)GAT>CAT p.D294H NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 294 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TAGAGTAATTGATTTGGATGA 0.318 11 93 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67684885 67684885 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:67684885G>C uc002lkp.2 - 46 6247 c.6179C>G c.(6178-6180)TCT>TGT p.S2060C RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Missense_Mutation_p.S1148C|RTTN_uc002lkn.2_Missense_Mutation_p.S50C|RTTN_uc010dqp.2_Missense_Mutation_p.S312C NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2060 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAATGCTAGAGAGAGGAAGTT 0.343 46 11 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 76936877 76936877 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:76936877G>C uc002lmx.2 + 8 857 c.843G>C c.(841-843)GTG>GTC p.V281V ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Silent_p.V281V|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 281 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) AGGTGGCAGTGAGCTGCACGC 0.448 40 8 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77170998 77170998 + Silent SNP G T T rs61731548 byFrequency TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:77170998G>T uc010xfg.1 + 2 1176 c.723G>T c.(721-723)TCG>TCT p.S241S NFATC1_uc002lnc.1_Silent_p.S241S|NFATC1_uc010xff.1_Silent_p.S241S|NFATC1_uc002lnd.2_Silent_p.S241S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.S241S|NFATC1_uc010xfi.1_Silent_p.S228S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.S228S|NFATC1_uc002lng.2_Silent_p.S228S|NFATC1_uc010xfk.1_Silent_p.S228S NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 241 3 X SP repeats.|2. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCTCCACCTCGCCCCGCGCCA 0.711 6 21 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77170999 77170999 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr18:77170999C>T uc010xfg.1 + 2 1177 c.724C>T c.(724-726)CCC>TCC p.P242S NFATC1_uc002lnc.1_Missense_Mutation_p.P242S|NFATC1_uc010xff.1_Missense_Mutation_p.P242S|NFATC1_uc002lnd.2_Missense_Mutation_p.P242S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P242S|NFATC1_uc010xfi.1_Missense_Mutation_p.P229S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P229S|NFATC1_uc002lng.2_Missense_Mutation_p.P229S|NFATC1_uc010xfk.1_Missense_Mutation_p.P229S NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 242 3 X SP repeats.|2. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTCCACCTCGCCCCGCGCCAG 0.711 6 20 --- --- --- --- PASS CIRBP 1153 broad.mit.edu 37 19 1271175 1271175 + Missense_Mutation SNP G T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:1271175G>T uc002lrr.3 + 3 289 c.140G>T c.(139-141)CGG>CTG p.R47L C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.R36L|CIRBP_uc002lrt.2_Missense_Mutation_p.R47L|CIRBP_uc010xgl.1_Missense_Mutation_p.R47L|CIRBP_uc002lrv.3_Missense_Mutation_p.R47L|CIRBP_uc002lru.2_RNA NM_001280 NP_001271 Q14011 CIRBP_HUMAN cold inducible RNA binding protein 47 RRM. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAGATCTCGGGGATTTGGG 0.552 16 24 --- --- --- --- PASS ZNF57 126295 broad.mit.edu 37 19 2917970 2917970 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:2917970G>C uc002lwr.2 + 4 1499 c.1351G>C c.(1351-1353)GAA>CAA p.E451Q ZNF57_uc010xha.1_Missense_Mutation_p.E419Q NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 451 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CCATAAATGTGAACACTGTGG 0.433 34 64 --- --- --- --- PASS HDGFRP2 84717 broad.mit.edu 37 19 4499548 4499548 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:4499548C>T uc002mao.2 + 14 1729 c.1636C>T c.(1636-1638)CTC>TTC p.L546F HDGFRP2_uc002map.2_Missense_Mutation_p.L546F|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.L11F|HDGFRP2_uc002maq.1_Missense_Mutation_p.L11F NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 546 Potential. transcription, DNA-dependent nucleus DNA binding|protein binding 0 CTATACCCGGCTCAAGTCGCG 0.368 7 7 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9067241 9067241 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:9067241G>A uc002mkp.2 - 3 20409 c.20205C>T c.(20203-20205)ATC>ATT p.I6735I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6737 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCGAGTGATGATGGTCATAT 0.512 73 88 --- --- --- --- PASS LDLR 3949 broad.mit.edu 37 19 11238705 11238705 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:11238705G>A uc002mqk.3 + 16 2501 c.2333G>A c.(2332-2334)AGA>AAA p.R778K LDLR_uc010xlk.1_Missense_Mutation_p.R778K|LDLR_uc010xll.1_Missense_Mutation_p.R737K|LDLR_uc010xlm.1_Missense_Mutation_p.R631K|LDLR_uc010xln.1_Missense_Mutation_p.R600K|LDLR_uc010xlo.1_Missense_Mutation_p.R610K|LDLR_uc010dxu.2_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 778 Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GTTGCTGGCAGAGGAAATGAG 0.617 32 46 --- --- --- --- PASS OR10H3 26532 broad.mit.edu 37 19 15852340 15852340 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:15852340C>T uc010xoq.1 + 1 138 c.138C>T c.(136-138)ATC>ATT p.I46I NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACCTTCTTATCATGGCCACAG 0.522 103 150 --- --- --- --- PASS UPF1 5976 broad.mit.edu 37 19 18965427 18965427 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:18965427G>A uc002nkg.2 + 9 1482 c.1207G>A c.(1207-1209)GCC>ACC p.A403T UPF1_uc002nkf.2_Missense_Mutation_p.A392T NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 403 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGATGAGATCGCCATTGAGCT 0.522 98 141 --- --- --- --- PASS NUDT19 390916 broad.mit.edu 37 19 33200258 33200258 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:33200258C>G uc010edf.2 + 2 882 c.882C>G c.(880-882)ATC>ATG p.I294M NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 294 mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) GGCTGCCGATCATCTTGTTAA 0.458 29 94 --- --- --- --- PASS CHST8 64377 broad.mit.edu 37 19 34263812 34263812 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:34263812C>G uc002nus.3 + 5 1624 c.1119C>G c.(1117-1119)TTC>TTG p.F373L CHST8_uc002nut.3_Missense_Mutation_p.F373L|CHST8_uc002nuu.2_Missense_Mutation_p.F373L NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 373 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) TCCCCCGGTTCAAGGACCGGC 0.622 24 15 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47219577 47219577 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:47219577C>A uc002pfh.2 - 2 393 c.51G>T c.(49-51)CCG>CCT p.P17P PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.P17P|PRKD2_uc002pfj.2_Silent_p.P17P|PRKD2_uc010xye.1_Silent_p.P17P|PRKD2_uc002pfk.2_Intron NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 17 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GAGGAGACCCCGGCCCGGGAG 0.726 8 14 --- --- --- --- PASS JOSD2 126119 broad.mit.edu 37 19 51013560 51013560 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:51013560G>A uc002psn.1 - 2 160 c.129C>T c.(127-129)GCC>GCT p.A43A JOSD2_uc002pso.1_Silent_p.A43A|JOSD2_uc002psp.1_Silent_p.A43A|JOSD2_uc002psq.1_Silent_p.A43A NM_138334 NP_612207 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 43 Josephin. protein deubiquitination ubiquitin-specific protease activity 0 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) AGATCTCATCGGCAGCCTCCT 0.662 27 29 --- --- --- --- PASS SIGLEC6 946 broad.mit.edu 37 19 52034597 52034597 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:52034597C>G uc002pwy.2 - 2 406 c.244G>C c.(244-246)GAC>CAC p.D82H SIGLEC6_uc002pwz.2_Missense_Mutation_p.D82H|SIGLEC6_uc002pxa.2_Missense_Mutation_p.D82H|SIGLEC6_uc010ydb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010ydc.1_Missense_Mutation_p.D71H|SIGLEC6_uc010eoz.1_Missense_Mutation_p.D71H|SIGLEC6_uc010epb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010epa.1_Missense_Mutation_p.D71H NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 82 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) ACTTCTTCGTCTGGGTCGTTT 0.587 24 44 --- --- --- --- PASS ZNF613 79898 broad.mit.edu 37 19 52448967 52448967 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:52448967G>A uc002pxz.1 + 6 2254 c.1831G>A c.(1831-1833)GAT>AAT p.D611N ZNF613_uc002pya.1_Missense_Mutation_p.D575N NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AGTCTCAGCAGATAGTAGAAT 0.418 12 19 --- --- --- --- PASS MYADM 91663 broad.mit.edu 37 19 54377415 54377415 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:54377415C>T uc002qcl.2 + 3 780 c.632C>T c.(631-633)GCC>GTC p.A211V MYADM_uc002qcm.2_Missense_Mutation_p.A211V|MYADM_uc002qcn.2_Missense_Mutation_p.A211V|MYADM_uc002qco.2_Missense_Mutation_p.A211V|MYADM_uc002qcp.2_Missense_Mutation_p.A211V NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 211 MARVEL 2.|Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GCGGTGTACGCCATCTGCTTC 0.637 25 84 --- --- --- --- PASS ZNF606 80095 broad.mit.edu 37 19 58489707 58489707 + Nonsense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr19:58489707G>A uc002qqw.2 - 7 2959 c.2341C>T c.(2341-2343)CAA>TAA p.Q781* ZNF606_uc010yhp.1_Nonsense_Mutation_p.Q691* NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 781 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CTCTGGTGTTGAAGTAGGGCT 0.373 49 68 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961091 1961091 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr20:1961091G>A uc010gaj.2 - 3 885 c.643C>T c.(643-645)CGT>TGT p.R215C uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R215C|PDYN_uc010zpt.1_Missense_Mutation_p.R60C NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 215 R -> C (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect). cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 AGCTTGGGACGAATGCGCCGC 0.587 66 52 --- --- --- --- PASS ATP9A 10079 broad.mit.edu 37 20 50342415 50342415 + Silent SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr20:50342415G>A uc002xwg.1 - 3 270 c.270C>T c.(268-270)TGC>TGT p.C90C ATP9A_uc010gih.1_Silent_p.C75C NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 90 Helical; (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 ovary(4) 4 CAAACTGAGAGCAGGCAAGAA 0.438 8 19 --- --- --- --- PASS PCK1 5105 broad.mit.edu 37 20 56140109 56140109 + Silent SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr20:56140109C>A uc002xyn.3 + 9 1495 c.1332C>A c.(1330-1332)GTC>GTA p.V444V PCK1_uc010zzm.1_Silent_p.V127V NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 444 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCCCTCTAGTCTATGAAGCTC 0.458 17 34 --- --- --- --- PASS RPS21 6227 broad.mit.edu 37 20 60963410 60963410 + Missense_Mutation SNP A T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr20:60963410A>T uc002ycr.2 + 5 322 c.232A>T c.(232-234)ATC>TTC p.I78F RPS21_uc002ycs.2_Missense_Mutation_p.I78F|RPS21_uc002yct.2_3'UTR|RPS21_uc002ycu.2_Missense_Mutation_p.I78F NM_001024 NP_001015 P63220 RS21_HUMAN ribosomal protein S21 78 endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein N-terminus binding|structural constituent of ribosome 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGCCGATGGCATCGTCTCAAA 0.488 7 9 --- --- --- --- PASS CABLES2 81928 broad.mit.edu 37 20 60969315 60969315 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr20:60969315C>T uc002ycv.2 - 5 619 c.612G>A c.(610-612)CTG>CTA p.L204L NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 204 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) TGTCCACCCTCAGGTCACTGC 0.637 7 14 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41648044 41648044 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr21:41648044G>A uc002yyq.1 - 11 2788 c.2336C>T c.(2335-2337)TCC>TTC p.S779F DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 779 Extracellular (Potential).|Ig-like C2-type 8. 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) GAGGTACATGGACTTGCTGAC 0.468 59 12 --- --- --- --- PASS ADRBK2 157 broad.mit.edu 37 22 26083535 26083535 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:26083535C>T uc003abx.3 + 11 1005 c.858C>T c.(856-858)CAC>CAT p.H286H ADRBK2_uc010gux.2_Silent_p.H286H|ADRBK2_uc003abw.2_Silent_p.H173H|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 286 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) TTTCACAACACGGTGTGTTCT 0.403 27 60 --- --- --- --- PASS TFIP11 24144 broad.mit.edu 37 22 26902880 26902880 + Missense_Mutation SNP G A A rs151208617 TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:26902880G>A uc003acr.2 - 4 598 c.224C>T c.(223-225)TCT>TTT p.S75F TFIP11_uc003acs.2_Missense_Mutation_p.S75F|TFIP11_uc003act.2_Missense_Mutation_p.S75F NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 75 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 GACTGGCGCAGAGTAGTCACG 0.522 18 58 --- --- --- --- PASS XBP1 7494 broad.mit.edu 37 22 29192074 29192074 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:29192074G>C uc011akl.1 - 5 582 c.534C>G c.(532-534)CTC>CTG p.L178L XBP1_uc003aec.2_5'UTR|XBP1_uc003aed.2_Missense_Mutation_p.S137C|XBP1_uc003aef.2_5'UTR NM_001079539 NP_001073007 P17861 XBP1_HUMAN X-box binding protein 1 isoform XBP1(S) Error:Variant_position_missing_in_P17861_after_alignment immune response nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 AATCCATGGGGAGATGTTCTG 0.512 5 175 --- --- --- --- PASS RAC2 5880 broad.mit.edu 37 22 37628865 37628865 + Silent SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:37628865G>C uc003arc.2 - 3 318 c.201C>G c.(199-201)CTC>CTG p.L67L NM_002872 NP_002863 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 67 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|central_nervous_system(1)|skin(1) 4 AGAGCGGCCGGAGACGGTCGT 0.388 7 38 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 44028021 44028021 + Silent SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:44028021C>T uc003bdy.1 - 19 2411 c.2196G>A c.(2194-2196)CTG>CTA p.L732L EFCAB6_uc003bdz.1_Silent_p.L580L|EFCAB6_uc010gzi.1_Silent_p.L580L|EFCAB6_uc010gzj.1_Silent_p.L30L|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GGAAAAGCTTCAGGCATTCTT 0.567 53 124 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51160628 51160628 + Missense_Mutation SNP C G G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr22:51160628C>G uc003bne.1 + 22 4415 c.4415C>G c.(4414-4416)TCT>TGT p.S1472C SHANK3_uc003bnf.1_Missense_Mutation_p.S919C|SHANK3_uc010hbg.1_Missense_Mutation_p.S654C NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1472 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GGGCTGGCCTCTGCCGCCGGG 0.711 6 12 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21670577 21670577 + Missense_Mutation SNP G A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chrX:21670577G>A uc004czx.1 + 22 3079 c.3043G>A c.(3043-3045)GAA>AAA p.E1015K CNKSR2_uc011mjo.1_Missense_Mutation_p.E985K NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 1015 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TATTTCTTCTGAAGTAGATGT 0.398 37 8 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83723533 83723533 + Missense_Mutation SNP G C C TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chrX:83723533G>C uc004eek.1 - 3 1307 c.1198C>G c.(1198-1200)CAT>GAT p.H400D HDX_uc011mqv.1_Missense_Mutation_p.H400D|HDX_uc004eel.1_Missense_Mutation_p.H342D NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 400 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GATGCAAAATGAGGAGAAAAA 0.318 33 3 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132573 91132573 + Missense_Mutation SNP C A A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chrX:91132573C>A uc004efk.1 + 2 2179 c.1334C>A c.(1333-1335)CCT>CAT p.P445H PCDH11X_uc004efl.1_Missense_Mutation_p.P445H|PCDH11X_uc004efo.1_Missense_Mutation_p.P445H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P445H|PCDH11X_uc004efm.1_Missense_Mutation_p.P445H|PCDH11X_uc004efn.1_Missense_Mutation_p.P445H|PCDH11X_uc004efh.1_Missense_Mutation_p.P445H|PCDH11X_uc004efj.1_Missense_Mutation_p.P445H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 445 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GGCAAACCTCCTTTGAATCAG 0.403 81 5 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911982 150911982 + Missense_Mutation SNP C T T TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chrX:150911982C>T uc004fey.1 + 7 1231 c.1007C>T c.(1006-1008)ACT>ATT p.T336I NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 336 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGACTCTCACTACCATTGGG 0.507 102 8 --- --- --- --- PASS ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA - - rs11969612 by1000genomes TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr6:16327913_16327915delTGA uc003nbt.2 - 8 1598_1600 c.627_629delTCA c.(625-630)CATCAG>CAG p.H209del ATXN1_uc010jpi.2_In_Frame_Del_p.H209del|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 209 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgatgctgatgctgctgct 0.379 2 6 --- --- --- --- C7orf58 79974 broad.mit.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - A A rs141494536 byFrequency TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr7:120911387_120911388insA uc003vjq.3 + 22 3218_3219 c.2771_2772insA c.(2770-2772)GCAfs p.A924fs NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 924 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CTGGATACTGCAAAAAAACATG 0.351 89 39 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135012363 135012363 + Frame_Shift_Del DEL C - - TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba 186fabc6-490c-4d90-ad23-ce9ad326fc1b g.chr10:135012363delC uc001llz.1 + 14 2352 c.2351delC c.(2350-2352)GCCfs p.A784fs KNDC1_uc001lma.1_Frame_Shift_Del_p.A719fs|KNDC1_uc001lmb.1_Frame_Shift_Del_p.A196fs NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 784 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCAGTCCCCGCCCCGCCCACG 0.726 4 2 --- --- --- ---