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 ARHGEF16 27237 broad.mit.edu 37 1 3389705 3389705 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:3389705C>T uc001akg.3 + 7 1334 c.1086C>T c.(1084-1086)ATC>ATT p.I362I ARHGEF16_uc001aki.2_Silent_p.I74I|ARHGEF16_uc001akj.2_Silent_p.I74I|ARHGEF16_uc009vli.1_Silent_p.I66I|ARHGEF16_uc010nzh.1_Silent_p.I66I NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 362 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCAGTGACATCCTGGAGGAGC 0.622 12 24 --- --- --- --- PASS H6PD 9563 broad.mit.edu 37 1 9323660 9323660 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:9323660C>A uc001apt.2 + 5 1381 c.1108C>A c.(1108-1110)CGG>AGG p.R370R NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 370 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGGCTACGCTCGGATCTTGTT 0.617 4 45 --- --- --- --- PASS UBE4B 10277 broad.mit.edu 37 1 10228233 10228233 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:10228233G>A uc001aqs.3 + 24 3951 c.3238G>A c.(3238-3240)GAG>AAG p.E1080K UBE4B_uc001aqr.3_Missense_Mutation_p.E951K|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.E535K|UBE4B_uc001aqu.2_5'Flank NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1080 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TGCTCAGGATGAGCGTGTGTC 0.587 10 42 --- --- --- --- PASS C1orf127 148345 broad.mit.edu 37 1 11015097 11015097 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:11015097T>C uc010oao.1 - 5 483 c.478A>G c.(478-480)AAG>GAG p.K160E C1orf127_uc001arr.1_Missense_Mutation_p.K142E|C1orf127_uc001ars.1_Missense_Mutation_p.K160E NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 160 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACAAAGTCCTTGTTCTCAGTC 0.557 21 26 --- --- --- --- PASS CELA2A 63036 broad.mit.edu 37 1 15792535 15792535 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:15792535C>G uc001awk.2 + 6 561 c.535C>G c.(535-537)CTG>GTG p.L179V NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 179 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GGGCCGGTTGCTGGTTGTGGA 0.572 116 76 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19491316 19491316 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:19491316G>T uc001bbi.2 - 32 4492 c.4488C>A c.(4486-4488)ACC>ACA p.T1496T UBR4_uc001bbm.1_Silent_p.T707T NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1496 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAATGTATGTGGTCAGTAACT 0.488 7 121 --- --- --- --- PASS ECE1 1889 broad.mit.edu 37 1 21571587 21571587 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:21571587G>A uc001bek.2 - 10 1248 c.1173C>T c.(1171-1173)AAC>AAT p.N391N ECE1_uc001bem.2_Silent_p.N375N|ECE1_uc001bej.2_Silent_p.N379N|ECE1_uc001bei.2_Silent_p.N388N|ECE1_uc010odl.1_Silent_p.N391N|ECE1_uc009vqa.1_Silent_p.N391N NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 391 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCATGTAGTTGTTGAGCAGGC 0.592 OREG0013200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 --- --- --- --- PASS CELA3A 10136 broad.mit.edu 37 1 22336303 22336303 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:22336303C>T uc001bfl.2 + 7 767 c.748C>T c.(748-750)CCC>TCC p.P250S NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 250 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 CATCTGGAAGCCCACGGTGTT 0.607 10 27 --- --- --- --- PASS OPRD1 4985 broad.mit.edu 37 1 29189343 29189343 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:29189343G>A uc001brf.1 + 3 909 c.667G>A c.(667-669)GTG>ATG p.V223M NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 223 Helical; Name=5; (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) CTTCGCCTTCGTGGTGCCCAT 0.647 14 10 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36509055 36509055 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:36509055G>T uc001bzp.2 + 17 2436 c.2180G>T c.(2179-2181)AGA>ATA p.R727I EIF2C3_uc001bzq.2_Missense_Mutation_p.R493I NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 727 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAGGTTGGAAGAAGTGGCAAT 0.353 6 47 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36509093 36509093 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:36509093G>T uc001bzp.2 + 17 2474 c.2218G>T c.(2218-2220)GAC>TAC p.D740Y EIF2C3_uc001bzq.2_Missense_Mutation_p.D506Y NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 740 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTTGATACAGACATTACACA 0.353 12 51 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36509117 36509117 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:36509117G>A uc001bzp.2 + 17 2498 c.2242G>A c.(2242-2244)GAT>AAT p.D748N EIF2C3_uc001bzq.2_Missense_Mutation_p.D514N NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 748 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATATGAGTTCGATTTTTACCT 0.353 9 54 --- --- --- --- PASS CDCA8 55143 broad.mit.edu 37 1 38171130 38171130 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:38171130G>A uc001cbr.2 + 9 709 c.602G>A c.(601-603)GGC>GAC p.G201D CDCA8_uc001cbs.2_Missense_Mutation_p.G201D|CDCA8_uc010oih.1_Missense_Mutation_p.G134D NM_018101 NP_060571 Q53HL2 BOREA_HUMAN cell division cycle associated 8 201 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGACCCCTGGCCTGCGTACT 0.507 30 63 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46488582 46488582 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:46488582A>G uc001cov.2 + 13 1707 c.1424A>G c.(1423-1425)GAA>GGA p.E475G MAST2_uc001cow.2_Missense_Mutation_p.E475G|MAST2_uc001coy.1_Missense_Mutation_p.E149G|MAST2_uc001coz.1_Missense_Mutation_p.E360G|MAST2_uc009vya.2_Missense_Mutation_p.E397G|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 475 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TTGTTTCCAGAAATGGCCCAG 0.473 8 79 --- --- --- --- PASS PGM1 5236 broad.mit.edu 37 1 64097450 64097450 + Nonsense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:64097450G>T uc001dbh.2 + 4 892 c.679G>T c.(679-681)GGA>TGA p.G227* PGM1_uc010ooy.1_Nonsense_Mutation_p.G30*|PGM1_uc010ooz.1_Nonsense_Mutation_p.G245* NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 227 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 TGCTATGCATGGAGGTATACA 0.413 42 106 --- --- --- --- PASS ROR1 4919 broad.mit.edu 37 1 64644214 64644214 + Silent SNP G A A rs146764088 byFrequency TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:64644214G>A uc001dbj.2 + 9 2889 c.2490G>A c.(2488-2490)GCG>GCA p.A830A uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 830 Cytoplasmic (Potential).|Pro-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 GATATGCAGCGTTTCCAGCTG 0.562 17 37 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74929215 74929215 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:74929215G>A uc001dgf.1 + 21 2153 c.2102G>A c.(2101-2103)GGG>GAG p.G701E TNNI3K_uc001dgd.2_Missense_Mutation_p.G802E|TNNI3K_uc001dge.1_Missense_Mutation_p.G802E NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 701 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CTGATACGAGGGTGGAACGCA 0.443 31 84 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75065437 75065437 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:75065437G>T uc001dgg.2 - 11 1887 c.1668C>A c.(1666-1668)GAC>GAA p.D556E uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D350E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 556 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTTCACATTGTCACGGGCAT 0.413 51 112 --- --- --- --- PASS ST6GALNAC5 81849 broad.mit.edu 37 1 77510258 77510258 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:77510258C>A uc001dhi.2 + 3 806 c.631C>A c.(631-633)CAG>AAG p.Q211K ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 211 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 CAAGATGCTGCAGTTTGATGA 0.567 55 92 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89652027 89652027 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:89652027G>C uc001dnb.2 - 10 1812 c.1696C>G c.(1696-1698)CAC>GAC p.H566D NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 566 Potential. cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TTCAGCTTGTGTTTTAGCAGC 0.478 6 78 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98165061 98165061 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:98165061G>A uc001drv.2 - 6 663 c.526C>T c.(526-528)CTG>TTG p.L176L DPYD_uc010oub.1_RNA NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 176 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGGGGAGGCAGCGAAGGATTT 0.413 18 66 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114340245 114340245 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:114340245G>T uc001edq.2 - 2 1153 c.1117C>A c.(1117-1119)CTT>ATT p.L373I RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 373 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAGCATGAAGGACAAGAGCA 0.318 4 32 --- --- --- --- PASS DENND2C 163259 broad.mit.edu 37 1 115137122 115137122 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:115137122G>C uc001efd.1 - 18 3105 c.2403C>G c.(2401-2403)ATC>ATG p.I801M DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.I744M NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 801 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTGAGTCAAGATTTCATTTC 0.383 14 27 --- --- --- --- PASS MAN1A2 10905 broad.mit.edu 37 1 118003163 118003163 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:118003163G>A uc001ehd.1 + 7 1724 c.1003G>A c.(1003-1005)GAA>AAA p.E335K MAN1A2_uc009whg.1_Missense_Mutation_p.E125K NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 335 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CATTCTGGCTGAATTTGGTAC 0.448 20 35 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149906927 149906927 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:149906927C>A uc001etl.3 - 5 671 c.420G>T c.(418-420)CTG>CTT p.L140L MTMR11_uc001etm.1_Silent_p.L68L|MTMR11_uc010pbm.1_Silent_p.L112L|MTMR11_uc010pbn.1_5'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 140 phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAACTCTGAGCAGCCGGAAGT 0.557 32 30 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152279085 152279085 + Silent SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:152279085A>G uc001ezu.1 - 3 8313 c.8277T>C c.(8275-8277)ACT>ACC p.T2759T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2759 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTTCCTCTAGTGCTGGGCC 0.582 Ichthyosis 12 184 --- --- --- --- PASS KPRP 448834 broad.mit.edu 37 1 152732698 152732698 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:152732698C>T uc001fal.1 + 2 692 c.634C>T c.(634-636)CCT>TCT p.P212S NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 212 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTTGAGGCCTTCCTACAG 0.567 13 115 --- --- --- --- PASS DCST2 127579 broad.mit.edu 37 1 155006051 155006051 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:155006051G>A uc001fgm.2 - 1 207 c.127C>T c.(127-129)CTG>TTG p.L43L DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 43 Helical; (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGTAGCTCCAGAAGCCCGTAG 0.632 8 44 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158614993 158614993 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:158614993C>A uc001fst.1 - 29 4378 c.4179G>T c.(4177-4179)CAG>CAT p.Q1393H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1393 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTCCAGGCACTGGTCTAGGA 0.433 24 91 --- --- --- --- PASS TAGLN2 8407 broad.mit.edu 37 1 159889626 159889626 + Splice_Site SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:159889626C>A uc001fum.1 - 2 231 c.181_splice c.e2-1 p.V61_splice CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Splice_Site_p.V61_splice|TAGLN2_uc001fuo.1_Splice_Site_p.V61_splice|TAGLN2_uc010piy.1_3'UTR NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) CACATAGCACCTGGATGAGGA 0.552 6 102 --- --- --- --- PASS CD244 51744 broad.mit.edu 37 1 160801188 160801188 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:160801188G>C uc009wtq.2 - 9 1240 c.1062C>G c.(1060-1062)AAC>AAG p.N354K CD244_uc001fxa.2_Missense_Mutation_p.N349K|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.N257K NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 354 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATCGAGCAGGGTTCTGGGCTT 0.393 49 87 --- --- --- --- PASS USP21 27005 broad.mit.edu 37 1 161132464 161132464 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:161132464A>T uc010pke.1 + 6 1218 c.841A>T c.(841-843)ACT>TCT p.T281S USP21_uc010pkc.1_Missense_Mutation_p.T281S|USP21_uc010pkd.1_Missense_Mutation_p.T281S|USP21_uc010pkf.1_Missense_Mutation_p.T281S NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 281 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGTGAATCCTACTCGATTCCG 0.532 9 24 --- --- --- --- PASS ALDH9A1 223 broad.mit.edu 37 1 165667753 165667753 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:165667753G>A uc001gdh.1 - 1 148 c.43C>T c.(43-45)CGC>TGC p.R15C uc001gdi.2_5'Flank|ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Missense_Mutation_p.R15C|ALDH9A1_uc010pla.1_5'UTR NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 Error:Variant_position_missing_in_P49189_after_alignment carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) CGAAGACTGCGAAGAAGCGGG 0.612 4 4 --- --- --- --- PASS FMO1 2326 broad.mit.edu 37 1 171227315 171227315 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:171227315G>A uc009wvz.2 + 2 225 c.89G>A c.(88-90)TGC>TAC p.C30Y FMO1_uc010pme.1_Missense_Mutation_p.C30Y|FMO1_uc001ghl.2_Missense_Mutation_p.C30Y|FMO1_uc001ghm.2_Missense_Mutation_p.C30Y|FMO1_uc001ghn.2_Missense_Mutation_p.C30Y NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 30 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGCCCACCTGCTTTGAGAGG 0.557 33 73 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 176153775 176153775 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:176153775C>T uc001gku.1 - 2 717 c.461G>A c.(460-462)AGC>AAC p.S154N RFWD2_uc001gkv.1_Missense_Mutation_p.S154N|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_Missense_Mutation_p.S13N NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 154 RING-type. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTACCAAAAGCTGTGGCCACA 0.284 11 173 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176918373 176918373 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:176918373T>A uc001glc.2 - 12 2214 c.2002A>T c.(2002-2004)ATG>TTG p.M668L ASTN1_uc001glb.1_Missense_Mutation_p.M668L|ASTN1_uc001gld.1_Missense_Mutation_p.M668L|ASTN1_uc009wwx.1_Missense_Mutation_p.M668L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 676 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AAGGGCGCCATCTGCTGGAGG 0.592 OREG0014004 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 43 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176934344 176934344 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:176934344C>A uc001glc.2 - 9 1765 c.1553G>T c.(1552-1554)GGC>GTC p.G518V ASTN1_uc001glb.1_Missense_Mutation_p.G518V|ASTN1_uc001gld.1_Missense_Mutation_p.G518V|ASTN1_uc009wwx.1_Missense_Mutation_p.G518V NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 526 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CAGGTCAAAGCCTCGCTGAAA 0.328 64 61 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181765947 181765947 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:181765947C>A uc001gow.2 + 46 6388 c.6223C>A c.(6223-6225)CAA>AAA p.Q2075K CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1963K|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1344K NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2118 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 AGAGCGCCGTCAATCCAGGTC 0.592 4 11 --- --- --- --- PASS APOBEC4 403314 broad.mit.edu 37 1 183617486 183617486 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:183617486G>A uc001gqn.2 - 2 703 c.431C>T c.(430-432)ACG>ATG p.T144M RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron NM_203454 NP_982279 Q8WW27 ABEC4_HUMAN apolipoprotein B 144 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 GCCTGGATACGTAATCAGGAA 0.428 15 105 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186291483 186291483 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:186291483G>T uc001grv.2 - 45 6725 c.6428C>A c.(6427-6429)CCA>CAA p.P2143Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2143 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AGTACGATGTGGCACCACAAG 0.338 T NTRK1 papillary thyroid 5 49 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202568477 202568477 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:202568477G>C uc001gye.2 - 8 1115 c.922C>G c.(922-924)CCG>GCG p.P308A SYT2_uc010pqb.1_Missense_Mutation_p.P308A|SYT2_uc009xaf.2_Missense_Mutation_p.P138A NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 308 Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TTCACGTACGGGTCTGCGGAG 0.557 25 61 --- --- --- --- PASS AVPR1B 553 broad.mit.edu 37 1 206230826 206230826 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:206230826T>A uc001hds.2 + 2 1117 c.959T>A c.(958-960)TTC>TAC p.F320Y NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 320 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) AATGTGGCTTTCACCATCTCT 0.348 4 9 --- --- --- --- PASS IL10 3586 broad.mit.edu 37 1 206944738 206944738 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:206944738T>C uc001hen.1 - 2 247 c.188A>G c.(187-189)AAC>AGC p.N63S NM_000572 NP_000563 P22301 IL10_HUMAN interleukin 10 precursor 63 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TAACAACAAGTtgtccagctg 0.368 4 15 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208270171 208270171 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:208270171C>A uc001hgz.2 - 7 2547 c.1789G>T c.(1789-1791)GGG>TGG p.G597W NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 597 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCAGGTTCCCAAAGGCACAG 0.552 13 22 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221879746 221879746 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:221879746C>G uc001hmy.1 - 3 1056 c.874G>C c.(874-876)GAG>CAG p.E292Q DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 292 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) TCCCGGCACTCTTGGAGCTGG 0.567 21 33 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223568431 223568431 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:223568431G>A uc001hoa.2 + 1 1717 c.1614G>A c.(1612-1614)CTG>CTA p.L538L NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 538 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) TCAACCACCTGAGGGAGAAAA 0.542 22 48 --- --- --- --- PASS CAPN2 824 broad.mit.edu 37 1 223949944 223949944 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:223949944G>C uc001hob.3 + 14 1847 c.1623G>C c.(1621-1623)TTG>TTC p.L541F CAPN2_uc010puy.1_Missense_Mutation_p.L463F|CAPN2_uc001hoc.2_Missense_Mutation_p.L122F NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 541 Domain IV. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) TTGCCCAGTTGGCAGGAGAGG 0.483 10 25 --- --- --- --- PASS GNG4 2786 broad.mit.edu 37 1 235747056 235747056 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:235747056C>A uc001hxe.3 - 3 537 c.83G>T c.(82-84)TGT>TTT p.C28F GNG4_uc009xfz.2_Missense_Mutation_p.C28F|GNG4_uc001hxh.3_Missense_Mutation_p.C28F NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 28 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) CCTGTCCATACAGGCTTCCAT 0.522 9 46 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237732496 237732496 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:237732496G>T uc001hyl.1 + 29 3595 c.3475G>T c.(3475-3477)GGC>TGC p.G1159C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1159 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGGCAAGCAGGCGATGTCGT 0.493 13 29 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240976973 240976973 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:240976973C>A uc001hyv.2 - 13 1231 c.901G>T c.(901-903)GAC>TAC p.D301Y RGS7_uc010pyh.1_Missense_Mutation_p.D275Y|RGS7_uc010pyj.1_Missense_Mutation_p.D217Y|RGS7_uc001hyu.2_Missense_Mutation_p.D301Y|RGS7_uc009xgn.1_Missense_Mutation_p.D248Y|RGS7_uc001hyw.2_Missense_Mutation_p.D301Y|RGS7_uc001hyt.2_Missense_Mutation_p.D133Y NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 301 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTAGAAGGGTCAGGTGGCAAA 0.423 8 27 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240976974 240976974 + Silent SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:240976974A>G uc001hyv.2 - 13 1230 c.900T>C c.(898-900)CCT>CCC p.P300P RGS7_uc010pyh.1_Silent_p.P274P|RGS7_uc010pyj.1_Silent_p.P216P|RGS7_uc001hyu.2_Silent_p.P300P|RGS7_uc009xgn.1_Silent_p.P247P|RGS7_uc001hyw.2_Silent_p.P300P|RGS7_uc001hyt.2_Silent_p.P132P NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 300 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TAGAAGGGTCAGGTGGCAAAA 0.428 8 26 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242035469 242035469 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:242035469C>A uc001hzh.2 + 12 1943 c.1403C>A c.(1402-1404)ACT>AAT p.T468N EXO1_uc001hzi.2_Missense_Mutation_p.T468N|EXO1_uc001hzj.2_Missense_Mutation_p.T468N|EXO1_uc009xgq.2_Missense_Mutation_p.T467N NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 468 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AATGGACCTACTAACAAAAAG 0.383 Direct_reversal_of_damage|Editing_and_processing_nucleases 4 56 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242035547 242035547 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:242035547G>C uc001hzh.2 + 12 2021 c.1481G>C c.(1480-1482)AGT>ACT p.S494T EXO1_uc001hzi.2_Missense_Mutation_p.S494T|EXO1_uc001hzj.2_Missense_Mutation_p.S494T|EXO1_uc009xgq.2_Missense_Mutation_p.S493T NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 494 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AATGAAGAAAGTGGTGCAGTT 0.383 Direct_reversal_of_damage|Editing_and_processing_nucleases 6 53 --- --- --- --- PASS TFB2M 64216 broad.mit.edu 37 1 246704449 246704449 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:246704449C>T uc001ibn.2 - 8 1200 c.1075G>A c.(1075-1077)GAT>AAT p.D359N NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 359 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) ACTTTCTCATCCTCCTGTTTT 0.348 15 29 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004383 248004383 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:248004383C>G uc001idn.1 - 1 816 c.816G>C c.(814-816)AAG>AAC p.K272N NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 272 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGAAATGATCTTGTTGATTT 0.478 21 35 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525278 248525278 + Missense_Mutation SNP G T T rs143377817 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:248525278G>T uc001ieh.1 + 1 396 c.396G>T c.(394-396)CAG>CAT p.Q132H NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 132 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGGATGCAGATGTTCTTCT 0.522 43 55 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248637397 248637397 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:248637397A>T uc001iel.1 + 1 746 c.746A>T c.(745-747)CAC>CTC p.H249L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTCCTCCCACATGATCATA 0.547 36 121 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685501 248685501 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr1:248685501T>A uc001ien.1 + 1 554 c.554T>A c.(553-555)ATC>AAC p.I185N NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGTGCTCATCAAACTGGCC 0.502 4 41 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232830 21232830 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:21232830T>C uc002red.2 - 26 7038 c.6910A>G c.(6910-6912)ACA>GCA p.T2304A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2304 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGAAATTGTAGTTCCCAAT 0.338 12 101 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25062839 25062839 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:25062839C>T uc002rfs.3 - 6 1457 c.1258G>A c.(1258-1260)GTG>ATG p.V420M ADCY3_uc002rfr.3_Missense_Mutation_p.V31M|ADCY3_uc010ykm.1_Missense_Mutation_p.V420M NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 420 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCCCCAGCACGGTGCCCGTG 0.642 14 30 --- --- --- --- PASS HADHB 3032 broad.mit.edu 37 2 26502980 26502980 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:26502980C>G uc002rgz.2 + 10 1181 c.930C>G c.(928-930)TTC>TTG p.F310L HADHB_uc010ykv.1_Missense_Mutation_p.F288L|HADHB_uc010ykw.1_Missense_Mutation_p.F295L|HADHB_uc002rha.2_Missense_Mutation_p.F187L|HADHB_uc010ykx.1_Missense_Mutation_p.F236L NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 310 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCTTCTTTCTTGGTAACTG 0.383 58 38 --- --- --- --- PASS SRD5A2 6716 broad.mit.edu 37 2 31754473 31754473 + Nonsense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:31754473C>T uc002rnw.1 - 5 673 c.602G>A c.(601-603)TGG>TAG p.W201* NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 201 androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) ATAGCCGATCCATTCAATGAT 0.473 51 28 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43547631 43547631 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:43547631G>C uc002rsw.3 - 31 4744 c.4392C>G c.(4390-4392)TTC>TTG p.F1464L THADA_uc010far.2_Missense_Mutation_p.F659L|THADA_uc002rsx.3_Missense_Mutation_p.F1464L|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1464 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AAGTCAATAGGAAGAGAATAT 0.368 62 43 --- --- --- --- PASS AFTPH 54812 broad.mit.edu 37 2 64780367 64780367 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:64780367G>C uc002sdc.2 + 1 1791 c.1759G>C c.(1759-1761)GCT>CCT p.A587P AFTPH_uc002scz.2_Missense_Mutation_p.A587P|AFTPH_uc002sda.2_Missense_Mutation_p.A587P|AFTPH_uc002sdb.2_Missense_Mutation_p.A587P NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 587 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TTCTTGGGCTGCTTTTGGAGA 0.438 28 20 --- --- --- --- PASS CCT7 10574 broad.mit.edu 37 2 73466796 73466796 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:73466796A>G uc002siz.2 + 2 134 c.32A>G c.(31-33)GAG>GGG p.E11G CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E11G|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 11 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 CTATTGAAAGAGGGGACTGAT 0.473 3 28 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79878772 79878772 + Silent SNP A C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:79878772A>C uc010ysh.1 + 1 95 c.90A>C c.(88-90)CCA>CCC p.P30P CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 30 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGTTGGAGCCACTTGTTACAC 0.413 31 20 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102475492 102475492 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:102475492G>C uc002tbg.2 + 14 1485 c.1430G>C c.(1429-1431)CGG>CCG p.R477P MAP4K4_uc002tbc.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbd.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbe.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbf.2_Missense_Mutation_p.R477P|MAP4K4_uc010yvy.1_Missense_Mutation_p.R477P|MAP4K4_uc002tbh.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbi.2_Missense_Mutation_p.R330P|MAP4K4_uc010yvz.1_Missense_Mutation_p.R457P|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.R373P NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 477 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GAGGAGCAGCGGCACTTGGAA 0.507 11 44 --- --- --- --- PASS UXS1 80146 broad.mit.edu 37 2 106761715 106761715 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:106761715C>G uc002tdm.2 - 6 486 c.388G>C c.(388-390)GAG>CAG p.E130Q UXS1_uc002tdn.2_Missense_Mutation_p.E135Q|UXS1_uc002tdo.2_Missense_Mutation_p.E73Q|UXS1_uc010ywh.1_Intron NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 130 NAD.|Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 ATCCAGTGCTCCACGTTTCTC 0.517 16 28 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133539570 133539570 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:133539570C>A uc002ttp.2 - 14 5188 c.4814G>T c.(4813-4815)AGA>ATA p.R1605I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1605 protein binding 0 AGGGCTGTGTCTATTCCTTGG 0.443 14 76 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135185973 135185973 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:135185973G>C uc002ttv.1 + 14 1977 c.1832G>C c.(1831-1833)GGG>GCG p.G611A NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 611 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) ACGTGCGAGGGGATGCTACAG 0.453 8 37 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136555694 136555694 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:136555694C>A uc002tuu.1 - 13 4892 c.4881G>T c.(4879-4881)TGG>TGT p.W1627C NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1627 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GATGTGCAAACCAGCCTCCCA 0.567 OREG0014998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 29 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137814061 137814061 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:137814061G>C uc002tva.1 + 2 118 c.118G>C c.(118-120)GTT>CTT p.V40L THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGTTTTCATGTTGACGGGTG 0.512 12 21 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137852667 137852667 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:137852667G>T uc002tva.1 + 3 1082 c.1082G>T c.(1081-1083)GGA>GTA p.G361V THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G251V NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTGTTGAAGGAGAACTTCTG 0.448 15 38 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137917791 137917791 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:137917791C>A uc002tva.1 + 5 1285 c.1285C>A c.(1285-1287)CCT>ACT p.P429T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.P319T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTCTCTAGACCTGTGGAAAA 0.488 17 52 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165952979 165952979 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:165952979C>G uc002ucx.2 - 24 4783 c.4291G>C c.(4291-4293)GAT>CAT p.D1431H SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.D1382H|SCN3A_uc002ucz.2_Missense_Mutation_p.D1382H NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1431 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ATACTTACATCTCGTGAATCA 0.284 11 29 --- --- --- --- PASS TLK1 9874 broad.mit.edu 37 2 171902795 171902795 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:171902795G>C uc002ugn.2 - 11 1530 c.1058C>G c.(1057-1059)ACA>AGA p.T353R TLK1_uc002ugo.2_Missense_Mutation_p.T374R|TLK1_uc002ugp.2_Missense_Mutation_p.T305R|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.T257R|TLK1_uc002ugr.1_Missense_Mutation_p.T136R NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 353 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 ATTATTAGCTGTGGGAGGTTT 0.388 22 37 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179436183 179436183 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:179436183A>T uc010zfg.1 - 275 67196 c.66972T>A c.(66970-66972)AGT>AGA p.S22324R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S16019R|TTN_uc010zfi.1_Missense_Mutation_p.S15952R|TTN_uc010zfj.1_Missense_Mutation_p.S15827R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23251 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) TGAGGTAGGTACTCTTCCCAT 0.458 20 27 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179516472 179516472 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:179516472G>T uc010zfg.1 - 160 32306 c.32082C>A c.(32080-32082)ACC>ACA p.T10694T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11621 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) TAGGTGGTACGGTCACTAAAG 0.438 10 22 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179597774 179597774 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:179597774C>A uc010zfg.1 - 52 12621 c.12397G>T c.(12397-12399)GAC>TAC p.D4133Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D794Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5060 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) ATTTTGCAGTCCAGTCTGCAG 0.468 19 22 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179616631 179616631 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:179616631G>T uc002unb.2 - 46 10720 c.10496C>A c.(10495-10497)CCT>CAT p.P3499H TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAATATTCAGGCCAGGAGCT 0.378 32 112 --- --- --- --- PASS CFLAR 8837 broad.mit.edu 37 2 202025610 202025610 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:202025610C>A uc002uxb.3 + 9 1701 c.1249C>A c.(1249-1251)CAC>AAC p.H417N CFLAR_uc010zhk.1_Missense_Mutation_p.H321N|CFLAR_uc002uxc.3_Missense_Mutation_p.H382N|CFLAR_uc010zhl.1_Missense_Mutation_p.H321N|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.H417N|CFLAR_uc002uxf.2_Missense_Mutation_p.H417N|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.H321N|CFLAR_uc010fsz.2_Missense_Mutation_p.H172N|CFLAR_uc002uxg.2_Missense_Mutation_p.H172N NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 417 Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 GGAGCAGTCTCACAGCTCACC 0.557 11 36 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209136333 209136333 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:209136333T>C uc002vcz.2 + 2 248 c.90T>C c.(88-90)TTT>TTC p.F30F PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.F30F|PIKFYVE_uc002vcv.2_Silent_p.F30F|PIKFYVE_uc002vcw.2_Silent_p.F30F|PIKFYVE_uc002vcx.2_Silent_p.F30F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 30 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TCACACACTTTAAACCTTTGA 0.388 46 76 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220404600 220404600 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:220404600G>A uc002vmc.3 - 4 2060 c.1833C>T c.(1831-1833)TTC>TTT p.F611F CHPF_uc010zlh.1_Silent_p.F449F NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 611 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CGGCCAGCAGGAACAGTGTGT 0.637 28 34 --- --- --- --- PASS NDUFA10 4705 broad.mit.edu 37 2 240960628 240960628 + Missense_Mutation SNP T G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:240960628T>G uc002vyn.2 - 3 526 c.446A>C c.(445-447)CAC>CCC p.H149P NDUFA10_uc010fzc.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyo.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyp.2_Missense_Mutation_p.H149P NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 149 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) GGTCAGCAAGTGCTCCAAGGC 0.473 OREG0015348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 22 --- --- --- --- PASS BTD 686 broad.mit.edu 37 3 15643402 15643402 + Splice_Site SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:15643402G>A uc003cah.2 + 1 147 c.44_splice c.e1+1 p.R15_splice HACL1_uc011avr.1_5'Flank|HACL1_uc011avs.1_5'Flank|HACL1_uc011avt.1_5'Flank|HACL1_uc003cag.2_5'Flank|HACL1_uc011avu.1_5'Flank|HACL1_uc010hep.2_5'Flank|HACL1_uc003caf.2_5'Flank|BTD_uc011avv.1_Intron|BTD_uc011avw.1_Splice_Site|BTD_uc011avx.1_5'Flank NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 CTAAGAGCAGGTACGGAGGGG 0.677 3 5 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38798202 38798202 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:38798202A>T uc003ciq.2 - 9 1253 c.1253T>A c.(1252-1254)TTC>TAC p.F418Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 418 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGCCTCCTGGAACTTCTTCTC 0.493 50 39 --- --- --- --- PASS XCR1 2829 broad.mit.edu 37 3 46063247 46063247 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:46063247G>A uc003cpe.2 - 3 417 c.193C>T c.(193-195)CTC>TTC p.L65F uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.L65F NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 65 Cytoplasmic (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ATGTTGGTGAGGGACTCCAGG 0.587 12 11 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89528545 89528545 + Splice_Site SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:89528545A>T uc003dqy.2 + 17 3072 c.2847_splice c.e17-2 p.D949_splice EPHA3_uc010hon.1_Splice_Site NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTTTTTTTACAGTGACATGAA 0.383 TSP Lung(6;0.00050) 16 11 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108363257 108363257 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:108363257A>T uc003dxd.2 + 14 1810 c.1388A>T c.(1387-1389)AAA>ATA p.K463I DZIP3_uc003dxf.1_Missense_Mutation_p.K463I|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.K463I|DZIP3_uc003dxg.1_Missense_Mutation_p.K186I NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 463 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCGCAATCCAAACAGTTTGAC 0.423 73 72 --- --- --- --- PASS FSTL1 11167 broad.mit.edu 37 3 120121721 120121721 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:120121721C>A uc003eds.2 - 9 914 c.739G>T c.(739-741)GAG>TAG p.E247* FSTL1_uc011bjh.1_Nonsense_Mutation_p.E212* NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 247 VWFC. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) CAGTCCACCTCGGTCTCAGCT 0.532 5 95 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124431836 124431836 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:124431836G>T uc003ehg.2 + 58 8257 c.8130G>T c.(8128-8130)GTG>GTT p.V2710V KALRN_uc003ehk.2_Silent_p.V1013V NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2709 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCAAAGATGTGGCTGTGAAAT 0.438 27 31 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124724179 124724179 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:124724179C>G uc003ehs.3 - 9 3295 c.3227G>C c.(3226-3228)AGA>ACA p.R1076T HEG1_uc011bke.1_Missense_Mutation_p.R1176T NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1076 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 AAGAAAAGTTCTCTTTAATTT 0.353 11 19 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129389574 129389574 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:129389574T>A uc003emz.3 - 5 1611 c.1110A>T c.(1108-1110)AGA>AGT p.R370S TMCC1_uc003emy.3_Missense_Mutation_p.R46S|TMCC1_uc011blc.1_Missense_Mutation_p.R191S|TMCC1_uc010htg.2_Missense_Mutation_p.R256S NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 370 integral to membrane skin(1) 1 AGGCAATCTCTCTGGGCTTTG 0.532 40 35 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130287403 130287403 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:130287403C>A uc010htl.2 + 5 2387 c.2356C>A c.(2356-2358)CGC>AGC p.R786S NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 786 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CATTCTGCAGCGCATTGAAGA 0.458 39 48 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130452690 130452690 + Silent SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:130452690G>C uc003enj.2 - 4 1733 c.1152C>G c.(1150-1152)TCC>TCG p.S384S NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 384 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TCTGTAGGCAGGATGTTATAA 0.408 38 141 --- --- --- --- PASS ATP2C1 27032 broad.mit.edu 37 3 130715610 130715610 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:130715610A>G uc003enl.2 + 24 2435 c.2213A>G c.(2212-2214)AAT>AGT p.N738S ATP2C1_uc011blg.1_Missense_Mutation_p.N772S|ATP2C1_uc011blh.1_Missense_Mutation_p.N733S|ATP2C1_uc011bli.1_Missense_Mutation_p.N772S|ATP2C1_uc003enk.2_Missense_Mutation_p.N722S|ATP2C1_uc003enm.2_Missense_Mutation_p.N738S|ATP2C1_uc003enn.2_Missense_Mutation_p.N722S|ATP2C1_uc003eno.2_Missense_Mutation_p.N738S|ATP2C1_uc003enp.2_Missense_Mutation_p.N738S|ATP2C1_uc003enq.2_Missense_Mutation_p.N738S|ATP2C1_uc003enr.2_Missense_Mutation_p.N738S|ATP2C1_uc003ens.2_Missense_Mutation_p.N738S|ATP2C1_uc003ent.2_Missense_Mutation_p.N738S|ATP2C1_uc003enu.2_Missense_Mutation_p.N416S NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 738 Helical; Name=6; (By similarity). Calcium 2 (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTGTGGATCAATATTATTATG 0.363 Hailey-Hailey_disease 26 67 --- --- --- --- PASS TOPBP1 11073 broad.mit.edu 37 3 133327499 133327499 + Silent SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:133327499T>A uc003eps.2 - 27 4437 c.4305A>T c.(4303-4305)ACA>ACT p.T1435T NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1435 BRCT 8. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 AAAAAAGATGTGTGGCCTCTT 0.388 Other_conserved_DNA_damage_response_genes 11 64 --- --- --- --- PASS KY 339855 broad.mit.edu 37 3 134339655 134339655 + Silent SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:134339655G>C uc010hty.2 - 7 590 c.528C>G c.(526-528)CTC>CTG p.L176L KY_uc011blw.1_Silent_p.L176L|KY_uc011blx.1_Silent_p.L155L|KY_uc003eqr.1_5'UTR NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 176 cytoskeleton|Z disc peptidase activity ovary(2) 2 GGGCCTCCTGGAGCAGGTCAC 0.602 9 19 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136068095 136068095 + Missense_Mutation SNP T G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:136068095T>G uc003era.1 - 29 3468 c.3176A>C c.(3175-3177)GAT>GCT p.D1059A STAG1_uc003erb.1_Missense_Mutation_p.D1059A NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 1059 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGACATTCTATCATCTTCACC 0.428 42 62 --- --- --- --- PASS TMEM22 80723 broad.mit.edu 37 3 136573495 136573495 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:136573495G>A uc003erf.3 + 2 407 c.193G>A c.(193-195)GGG>AGG p.G65R TMEM22_uc003erg.3_Missense_Mutation_p.G65R|TMEM22_uc010hub.2_Missense_Mutation_p.G65R NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 65 Golgi apparatus|integral to membrane ovary(1) 1 GAAAAAAAAAGGGAGAGCTTT 0.403 25 94 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147130317 147130317 + Missense_Mutation SNP T G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:147130317T>G uc003ewe.2 + 2 1714 c.995T>G c.(994-996)TTC>TGC p.F332C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 332 C2H2-type 4. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GAGAAGCCCTTCAAGTGCGAG 0.473 10 71 --- --- --- --- PASS SGEF 26084 broad.mit.edu 37 3 153909148 153909148 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:153909148A>G uc011bog.1 + 8 1922 c.1711A>G c.(1711-1713)ATG>GTG p.M571V SGEF_uc011boh.1_Missense_Mutation_p.M571V NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 571 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GAACTTACCCATGATCTCTTT 0.463 16 33 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154139080 154139080 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:154139080G>T uc003faa.2 - 3 1471 c.1371C>A c.(1369-1371)AGC>AGA p.S457R NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 457 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGGGCGTGGTGCTGATTTCTA 0.408 13 206 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154859822 154859822 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:154859822G>T uc010hvr.1 + 11 1211 c.1000G>T c.(1000-1002)GTG>TTG p.V334L MME_uc003fab.1_Missense_Mutation_p.V334L|MME_uc003fac.1_Missense_Mutation_p.V334L|MME_uc003fad.1_Missense_Mutation_p.V334L|MME_uc003fae.1_Missense_Mutation_p.V334L NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 334 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CATGTCAACTGTGAATATTAG 0.363 54 57 --- --- --- --- PASS MFSD1 64747 broad.mit.edu 37 3 158541245 158541245 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:158541245T>C uc003fcl.1 + 12 1136 c.1106T>C c.(1105-1107)CTT>CCT p.L369P MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.L272P|MFSD1_uc011bow.1_Missense_Mutation_p.L330P|MFSD1_uc011box.1_Missense_Mutation_p.L296P NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 369 Helical; (Potential). transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TACTCATTGCTTGCCTGTGCA 0.428 30 103 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164750383 164750383 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:164750383G>T uc003fei.2 - 24 2725 c.2663C>A c.(2662-2664)ACA>AAA p.T888K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 888 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTAACTTCTGTAACACTGTC 0.348 HNSCC(35;0.089) 24 37 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179501871 179501871 + Nonsense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:179501871C>G uc003fkh.2 + 21 2615 c.2534C>G c.(2533-2535)TCA>TGA p.S845* NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 845 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GTTTGTGCCTCAGAAAGGCCC 0.398 58 176 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186445035 186445035 + Nonsense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:186445035G>T uc011bsa.1 + 5 786 c.574G>T c.(574-576)GGA>TGA p.G192* KNG1_uc003fqr.2_Nonsense_Mutation_p.G192* NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 192 Cystatin 2. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GGTGGTGGCTGGATTGAACTT 0.368 6 61 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197427648 197427648 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr3:197427648G>A uc003fyc.2 - 7 1280 c.1097C>T c.(1096-1098)GCC>GTC p.A366V KIAA0226_uc003fyd.3_Missense_Mutation_p.A306V|KIAA0226_uc003fye.1_Missense_Mutation_p.A73V|KIAA0226_uc003fyf.2_Missense_Mutation_p.A199V|KIAA0226_uc003fyg.2_Missense_Mutation_p.A359V NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 366 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TAAGGAAGAGGCAGCAGAATC 0.597 14 37 --- --- --- --- PASS PDE6B 5158 broad.mit.edu 37 4 656969 656969 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:656969C>A uc003gap.2 + 15 1966 c.1913C>A c.(1912-1914)TCG>TAG p.S638* PDE6B_uc003gao.3_Nonsense_Mutation_p.S638*|PDE6B_uc011buy.1_Nonsense_Mutation_p.S359*|PDE6B_uc011buz.1_Nonsense_Mutation_p.S70* NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 638 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 TTCCTGCTCTCGGAGGAGGTT 0.617 3 21 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3318706 3318706 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:3318706C>A uc003ggw.2 + 2 1713 c.809C>A c.(808-810)TCG>TAG p.S270* RGS12_uc003ggu.2_Nonsense_Mutation_p.S270*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.S270*|RGS12_uc003ggx.1_Nonsense_Mutation_p.S270* NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 270 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAATCCACTCGCTGGTGACC 0.617 3 27 --- --- --- --- PASS FGFBP2 83888 broad.mit.edu 37 4 15964609 15964609 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:15964609G>C uc003gon.2 - 1 251 c.144C>G c.(142-144)AGC>AGG p.S48R NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN killer-specific secretory protein of 37 kDa 48 extracellular space growth factor binding 0 GCCCCAAGCTGCTGGGACGCA 0.592 11 32 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20533630 20533630 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:20533630C>T uc003gpr.1 + 17 1841 c.1637C>T c.(1636-1638)ACC>ATC p.T546I SLIT2_uc003gps.1_Missense_Mutation_p.T538I NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 546 LRR 12. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AATGAATTTACCGTGTTGGAA 0.299 14 31 --- --- --- --- PASS SEL1L3 23231 broad.mit.edu 37 4 25821452 25821452 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:25821452G>A uc003gru.3 - 8 1553 c.1401C>T c.(1399-1401)CAC>CAT p.H467H NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 467 integral to membrane binding 0 TCTCGCCCCCGTGCTTTGCTG 0.433 12 33 --- --- --- --- PASS LNX1 84708 broad.mit.edu 37 4 54327114 54327114 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:54327114A>G uc003hag.3 - 11 2403 c.2147T>C c.(2146-2148)ATT>ACT p.I716T PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.I620T|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 716 PDZ 4. cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGTTAGAGTAATTCTTCCTTT 0.363 27 54 --- --- --- --- PASS PPAT 5471 broad.mit.edu 37 4 57261688 57261688 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:57261688C>T uc003hbr.2 - 11 1586 c.1384G>A c.(1384-1386)GTA>ATA p.V462I NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 462 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) AGTCCTTCTACTGACAGATAC 0.343 16 36 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328018 80328018 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:80328018A>G uc003hlu.2 - 1 1355 c.1337T>C c.(1336-1338)GTA>GCA p.V446A NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 446 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 GGGTTTTATTACTGGAATATG 0.473 4 43 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96163623 96163623 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:96163623G>T uc003htp.1 - 7 1219 c.1065C>A c.(1063-1065)CTC>CTA p.L355L UNC5C_uc010ilc.1_Silent_p.L355L|UNC5C_uc003htq.2_Silent_p.L355L NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 355 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ATTGCAAGACGAGGCCGTCGC 0.552 15 11 --- --- --- --- PASS NPNT 255743 broad.mit.edu 37 4 106888366 106888366 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:106888366C>A uc003hya.2 + 11 1572 c.1367C>A c.(1366-1368)TCG>TAG p.S456* NPNT_uc011cfc.1_Nonsense_Mutation_p.S473*|NPNT_uc011cfd.1_Nonsense_Mutation_p.S486*|NPNT_uc011cfe.1_Nonsense_Mutation_p.S457*|NPNT_uc010ilt.1_Nonsense_Mutation_p.S427*|NPNT_uc011cff.1_Nonsense_Mutation_p.S427*|NPNT_uc010ilu.1_Intron NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 456 MAM. cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CTGACAGTGTCGGCAGCCAAA 0.537 3 19 --- --- --- --- PASS HPGD 3248 broad.mit.edu 37 4 175414319 175414319 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:175414319T>C uc003itu.2 - 6 835 c.645A>G c.(643-645)AAA>AAG p.K215K HPGD_uc003itt.2_Silent_p.K82K|HPGD_uc003itv.2_Intron|HPGD_uc011ckf.1_Silent_p.K94K|HPGD_uc010irp.2_Silent_p.K94K|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.K147K|HPGD_uc011ckh.1_Silent_p.K94K NM_000860 NP_000851 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 215 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity 0 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) TTCCATAGTATTTAATCATAT 0.289 6 10 --- --- --- --- PASS SPCS3 60559 broad.mit.edu 37 4 177241318 177241318 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:177241318G>C uc003iur.3 + 1 229 c.91G>C c.(91-93)GCC>CCC p.A31P NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 31 Helical; Signal-anchor for type II membrane protein; (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) CATCACCACCGCCTTCAAAGA 0.502 11 20 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183675635 183675635 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr4:183675635G>T uc003ivd.1 + 21 4152 c.4115G>T c.(4114-4116)CGT>CTT p.R1372L ODZ3_uc003ive.1_Missense_Mutation_p.R785L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1372 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ACTGAAAATCGTCAAGTTCGC 0.493 13 9 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1432624 1432624 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:1432624C>A uc003jck.2 - 4 729 c.608G>T c.(607-609)GGC>GTC p.G203V NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 203 Extracellular (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GTCGTTGAGGCCCGAGCTGTC 0.612 4 44 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13716740 13716740 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:13716740G>A uc003jfd.2 - 74 12807 c.12765C>T c.(12763-12765)GTC>GTT p.V4255V DNAH5_uc003jfc.2_Silent_p.V423V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4255 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGTCGTCAGTGACTCTGCCTC 0.388 Kartagener_syndrome 20 44 --- --- --- --- PASS FAM134B 54463 broad.mit.edu 37 5 16475279 16475279 + Silent SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:16475279A>G uc003jfs.2 - 9 1103 c.1065T>C c.(1063-1065)AAT>AAC p.N355N FAM134B_uc003jfr.2_Silent_p.N214N NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 355 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 TTCCCATGCCATTTTCTAGAG 0.428 39 46 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23510030 23510030 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:23510030T>C uc003jgo.2 + 4 377 c.195T>C c.(193-195)GGT>GGC p.G65G NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 65 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TCTTTTCAGGTCTCAGAGCCA 0.488 HNSCC(3;0.000094) 29 46 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23526702 23526702 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:23526702A>T uc003jgo.2 + 11 1687 c.1505A>T c.(1504-1506)CAG>CTG p.Q502L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 502 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAACAGGCCAGAAAGTGAAT 0.453 HNSCC(3;0.000094) 29 55 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31299570 31299570 + Splice_Site SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:31299570G>T uc003jhe.1 + 5 970 c.644_splice c.e5-1 p.G215_splice CDH6_uc003jhd.1_Splice_Site_p.G215_splice NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CACATCCACAGGTATTATCAA 0.338 6 102 --- --- --- --- PASS HSPA9 3313 broad.mit.edu 37 5 137895598 137895598 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:137895598G>T uc003ldf.2 - 11 1473 c.1365C>A c.(1363-1365)ACC>ACA p.T455T HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Silent_p.T386T NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 455 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TAATAAGTTTGGTAAAGACAC 0.478 4 29 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139193044 139193044 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:139193044C>T uc003leu.1 + 3 727 c.522C>T c.(520-522)GTC>GTT p.V174V NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 174 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCTGCGTCAGCTTCGAGG 0.652 13 6 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140176083 140176083 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:140176083G>A uc003lhd.2 + 1 1640 c.1534G>A c.(1534-1536)GCG>ACG p.A512T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A512T|PCDHA2_uc011czy.1_Missense_Mutation_p.A512T NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 512 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTGCACGCGGAGAGCGG 0.697 16 25 --- --- --- --- PASS HAVCR1 26762 broad.mit.edu 37 5 156482466 156482466 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:156482466A>G uc010jij.1 - 3 310 c.125T>C c.(124-126)GTC>GCC p.V42A HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.V42A|HAVCR1_uc011ddm.1_Missense_Mutation_p.V42A NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 42 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATGGATGTGACAGCTCCACT 0.483 6 4 --- --- --- --- PASS HIST1H2BA 255626 broad.mit.edu 37 6 25727146 25727146 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:25727146G>A uc003nfd.2 + 1 10 c.10G>A c.(10-12)GTG>ATG p.V4M HIST1H2AA_uc003nfc.2_5'Flank NM_170610 NP_733759 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 4 nucleosome assembly nucleosome|nucleus DNA binding kidney(1) 1 TATGCCGGAGGTGTCATCTAA 0.473 25 36 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25770337 25770337 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:25770337C>G uc003nfe.2 + 4 459 c.340C>G c.(340-342)CTC>GTC p.L114V SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Missense_Mutation_p.L51V NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 114 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GGGAATCATCCTCAGCTCCCT 0.458 37 77 --- --- --- --- PASS DEF6 50619 broad.mit.edu 37 6 35280413 35280413 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:35280413G>T uc003okk.2 + 5 710 c.671G>T c.(670-672)TGG>TTG p.W224L DEF6_uc010jvs.2_Missense_Mutation_p.W224L|DEF6_uc010jvt.2_Intron NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 224 PH. cytoplasm|nucleus|plasma membrane 0 GGCTACCTGTGGAAGCGAGGG 0.612 8 9 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38939383 38939383 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:38939383C>A uc003ooe.1 + 81 12416 c.11816C>A c.(11815-11817)TCA>TAA p.S3939* DNAH8_uc003oog.1_Nonsense_Mutation_p.S388* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGAACTATCTCAATGGGGCAA 0.378 6 90 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51907930 51907930 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:51907930C>G uc003pah.1 - 27 3100 c.2824G>C c.(2824-2826)GGT>CGT p.G942R PKHD1_uc003pai.2_Missense_Mutation_p.G942R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 942 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTGATGTCACCATCTTAAAGG 0.343 6 9 --- --- --- --- PASS GSTA1 2938 broad.mit.edu 37 6 52656747 52656747 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:52656747G>T uc003paz.2 - 7 690 c.578C>A c.(577-579)ACA>AAA p.T193K NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 193 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) CTTCTTCACTGTGGGCAGGTT 0.473 8 87 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72967848 72967848 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:72967848A>G uc003pga.2 + 17 2868 c.2791A>G c.(2791-2793)AGA>GGA p.R931G RIMS1_uc011dyb.1_Missense_Mutation_p.R556G|RIMS1_uc003pgc.2_Missense_Mutation_p.R557G|RIMS1_uc010kaq.2_Missense_Mutation_p.R404G|RIMS1_uc011dyc.1_Missense_Mutation_p.R405G|RIMS1_uc010kar.2_Missense_Mutation_p.R324G|RIMS1_uc011dyd.1_Missense_Mutation_p.R390G|RIMS1_uc003pgf.2_Missense_Mutation_p.R147G|RIMS1_uc003pgg.2_Missense_Mutation_p.R148G|RIMS1_uc003pgi.2_Missense_Mutation_p.R147G|RIMS1_uc003pgh.2_Missense_Mutation_p.R147G|RIMS1_uc003pgd.2_Missense_Mutation_p.R148G|RIMS1_uc003pge.2_Missense_Mutation_p.R148G|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R557G|RIMS1_uc010kas.1_Missense_Mutation_p.R390G NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 931 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTCTAGTGCTAGAGAAAGTAA 0.373 14 27 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84865148 84865148 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:84865148C>A uc010kbp.2 - 22 2960 c.2863G>T c.(2863-2865)GAT>TAT p.D955Y KIAA1009_uc003pkj.3_Missense_Mutation_p.D879Y|KIAA1009_uc003pki.3_Missense_Mutation_p.D341Y NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 955 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCCACTGTATCACCAGCTGCT 0.363 13 23 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105281021 105281021 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:105281021T>C uc003pqu.1 - 6 707 c.430A>G c.(430-432)ACA>GCA p.T144A HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.T144A NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 144 ANK 3. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AGTAGTTCTGTCCGCCCATTC 0.423 10 56 --- --- --- --- PASS ARMC2 84071 broad.mit.edu 37 6 109175566 109175566 + Silent SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:109175566A>G uc003pss.3 + 2 270 c.96A>G c.(94-96)GAA>GAG p.E32E ARMC2_uc011eao.1_5'UTR NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 32 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TCATAAGTGAAGCAAGAAATG 0.393 41 60 --- --- --- --- PASS SESN1 27244 broad.mit.edu 37 6 109415214 109415214 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:109415214C>A uc003psu.2 - 1 74 c.63G>T c.(61-63)AGG>AGT p.R21S C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) ATGCTGTCTCCCTAGTAGTTG 0.443 7 127 --- --- --- --- PASS MICAL1 64780 broad.mit.edu 37 6 109769511 109769511 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:109769511G>T uc003ptj.2 - 12 2004 c.1750C>A c.(1750-1752)CCG>ACG p.P584T MICAL1_uc003ptk.2_Missense_Mutation_p.P584T|MICAL1_uc010kdr.2_Missense_Mutation_p.P498T|MICAL1_uc011eaq.1_Missense_Mutation_p.P603T NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 584 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GACACCACCGGTGTGATGCCC 0.607 15 100 --- --- --- --- PASS DDO 8528 broad.mit.edu 37 6 110736689 110736689 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:110736689C>A uc003puc.2 - 1 65 c.61G>T c.(61-63)GAC>TAC p.D21Y DDO_uc003pud.2_Missense_Mutation_p.D21Y NM_003649 NP_003640 Q99489 OXDD_HUMAN D-aspartate oxidase isoform a Error:Variant_position_missing_in_Q99489_after_alignment aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity ovary(2)|breast(1) 3 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) AAAAAGCAGTCTTGGAAGCCA 0.507 16 36 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123318999 123318999 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:123318999C>A uc003pzi.1 + 2 946 c.77C>A c.(76-78)ACG>AAG p.T26K NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 26 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AACCCAGACACGCTGCACCAG 0.547 27 43 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128134270 128134270 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:128134270C>A uc003qbi.2 - 5 1835 c.1516G>T c.(1516-1518)GTG>TTG p.V506L THEMIS_uc010kfa.2_Missense_Mutation_p.V409L|THEMIS_uc011ebt.1_Missense_Mutation_p.V506L|THEMIS_uc010kfb.2_Missense_Mutation_p.V471L NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 506 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 AAGCGGCCCACAGGAATTTCC 0.478 20 38 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146673571 146673571 + Missense_Mutation SNP T A A rs151255685 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:146673571T>A uc010khw.1 + 5 1842 c.1372T>A c.(1372-1374)TCA>ACA p.S458T GRM1_uc010khv.1_Missense_Mutation_p.S458T|GRM1_uc003qll.2_Missense_Mutation_p.S458T|GRM1_uc011edz.1_Missense_Mutation_p.S458T|GRM1_uc011eea.1_Missense_Mutation_p.S458T NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 458 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CATCAAGTCCTCATTCATTGG 0.522 15 144 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151859208 151859208 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:151859208C>T uc003qol.2 + 3 304 c.215C>T c.(214-216)TCT>TTT p.S72F NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 72 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AAGATGCTTTCTAAAGAAGTC 0.353 31 48 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152949431 152949431 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:152949431C>A uc010kiw.2 - 3 638 c.36G>T c.(34-36)CGG>CGT p.R12R SYNE1_uc003qot.3_Silent_p.R12R|SYNE1_uc003qou.3_Silent_p.R12R|SYNE1_uc010kjb.1_Silent_p.R12R|SYNE1_uc003qpa.1_Silent_p.R12R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 12 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCGATATCCCGAGGACACC 0.502 HNSCC(10;0.0054) 17 52 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157521975 157521975 + Missense_Mutation SNP G T T rs144424476 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:157521975G>T uc003qqn.2 + 18 4345 c.4193G>T c.(4192-4194)CGC>CTC p.R1398L ARID1B_uc003qqo.2_Missense_Mutation_p.R1358L|ARID1B_uc003qqp.2_Missense_Mutation_p.R1345L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1403 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGCCCGGACCGCAGGCCCATC 0.632 6 18 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158914661 158914661 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:158914661C>A uc003qrf.2 + 10 3045 c.1688C>A c.(1687-1689)TCC>TAC p.S563Y TULP4_uc003qrg.2_Missense_Mutation_p.S563Y NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 563 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGGAGCTCTCCCGGTCCCCA 0.657 4 29 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161006101 161006101 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:161006101C>G uc003qtl.2 - 27 4386 c.4266G>C c.(4264-4266)AGG>AGC p.R1422S NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3930 Kringle 35. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATAATGGGATCCTCCGATGCC 0.443 38 91 --- --- --- --- PASS C6orf70 55780 broad.mit.edu 37 6 170169666 170169666 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr6:170169666G>C uc003qxg.1 + 12 1123 c.1090G>C c.(1090-1092)GAG>CAG p.E364Q C6orf70_uc011ehb.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxh.1_Missense_Mutation_p.E364Q|C6orf70_uc010kky.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxi.1_Missense_Mutation_p.E12Q NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 364 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GAACCATCAGGAGGGTCCCCG 0.403 7 20 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4089005 4089005 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:4089005G>T uc003smx.2 + 18 2767 c.2628G>T c.(2626-2628)GTG>GTT p.V876V SDK1_uc010kso.2_Silent_p.V152V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 876 Fibronectin type-III 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGCAGAACGTGCAGACGGAAG 0.572 8 29 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7410440 7410440 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:7410440T>C uc003src.1 - 33 3099 c.2982A>G c.(2980-2982)TCA>TCG p.S994S COL28A1_uc011jxe.1_Silent_p.S677S NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 994 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GAGGTGACGATGAACCAAAAA 0.368 23 39 --- --- --- --- PASS GLCCI1 113263 broad.mit.edu 37 7 8099836 8099836 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:8099836G>A uc003srk.2 + 5 1483 c.924G>A c.(922-924)AAG>AAA p.K308K NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 308 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) AATTAGAAAAGGTATTCATTA 0.368 17 43 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20762813 20762813 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:20762813G>A uc003suw.3 + 12 1807 c.1261G>A c.(1261-1263)GAT>AAT p.D421N ABCB5_uc010kuh.2_Missense_Mutation_p.D866N|ABCB5_uc003sux.1_Missense_Mutation_p.D44N NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 421 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TGCCAACAAAGATAAGCAAGA 0.378 15 33 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21727028 21727028 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:21727028T>A uc003svc.2 + 35 5859 c.5828T>A c.(5827-5829)GTG>GAG p.V1943E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1943 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAGGGATTGGTGCAGACAGGA 0.408 Kartagener_syndrome 25 31 --- --- --- --- PASS CREB5 9586 broad.mit.edu 37 7 28848907 28848907 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:28848907G>A uc003szq.2 + 9 1520 c.1130G>A c.(1129-1131)AGG>AAG p.R377K CREB5_uc003szo.2_Missense_Mutation_p.R344K|CREB5_uc003szr.2_Missense_Mutation_p.R370K|CREB5_uc003szs.2_Missense_Mutation_p.R238K NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 377 Basic motif. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 CCGGACGAGAGGCGGCGGAAA 0.592 24 30 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31592800 31592800 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:31592800G>T uc003tcj.1 + 2 1155 c.162G>T c.(160-162)CTG>CTT p.L54L CCDC129_uc011kad.1_Silent_p.L64L|CCDC129_uc003tci.1_Silent_p.L53L|CCDC129_uc011kae.1_Silent_p.L80L|CCDC129_uc003tck.1_5'Flank NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 54 0 TCCCCATGCTGGGTGAGAAGG 0.552 9 14 --- --- --- --- PASS ZPBP 11055 broad.mit.edu 37 7 50057886 50057886 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:50057886G>T uc003tou.2 - 6 803 c.733C>A c.(733-735)CCC>ACC p.P245T ZPBP_uc011kci.1_Missense_Mutation_p.P171T|ZPBP_uc010kyw.2_Missense_Mutation_p.P244T NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 245 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) CATCGCTTGGGTCCTTTTTCA 0.299 8 20 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 78150946 78150946 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:78150946G>T uc003ugx.2 - 4 809 c.555C>A c.(553-555)ACC>ACA p.T185T MAGI2_uc003ugy.2_Silent_p.T185T|MAGI2_uc011kgr.1_Silent_p.T17T|MAGI2_uc011kgs.1_Silent_p.T22T NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 185 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GCGGCTTTGGGGTACCGTAGT 0.383 8 143 --- --- --- --- PASS SPDYE3 441272 broad.mit.edu 37 7 99917383 99917383 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:99917383C>T uc003uug.1 + 4 651 c.411C>T c.(409-411)TTC>TTT p.F137F uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 514 0 TCCAGTTCTTCTGTTCCATGC 0.607 86 46 --- --- --- --- PASS PILRA 29992 broad.mit.edu 37 7 99971747 99971747 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:99971747G>T uc003uuo.1 + 2 357 c.145G>T c.(145-147)GTG>TTG p.V49L PILRA_uc011kjn.1_Missense_Mutation_p.V49L|PILRA_uc011kjo.1_Missense_Mutation_p.V49L|PILRA_uc003uup.1_Missense_Mutation_p.V49L|PILRA_uc003uuq.1_Missense_Mutation_p.V49L NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 49 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGTGGCTCTGTGGAAATCCC 0.557 6 44 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122111562 122111562 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:122111562C>A uc010lkp.2 - 13 2216 c.2053G>T c.(2053-2055)GGT>TGT p.G685C CADPS2_uc011knx.1_Missense_Mutation_p.G56C|CADPS2_uc003vkg.3_Missense_Mutation_p.G382C|CADPS2_uc010lkq.2_Missense_Mutation_p.G682C NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 685 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CCTCTCACACCATAACGGGCA 0.418 4 23 --- --- --- --- PASS AGK 55750 broad.mit.edu 37 7 141315303 141315303 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:141315303C>T uc003vwi.2 + 8 627 c.456C>T c.(454-456)ATC>ATT p.I152I AGK_uc011krg.1_RNA NM_018238 NP_060708 Q53H12 AGK_HUMAN acylglycerol kinase precursor 152 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity ovary(1)|breast(1) 2 Melanoma(164;0.0171) TTGGATTTATCCCACTGGGAG 0.438 38 39 --- --- --- --- PASS FAM115C 285966 broad.mit.edu 37 7 143421745 143421745 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:143421745C>T uc003wdf.2 + 7 2543 c.2460C>T c.(2458-2460)CCC>CCT p.P820P FAM115C_uc003wdg.2_Silent_p.P539P|FAM115C_uc011ktk.1_Silent_p.P820P|FAM115C_uc003wdh.2_Silent_p.P820P|FAM115C_uc011ktm.1_Silent_p.P820P|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Silent_p.P716P|FAM115C_uc003wdi.1_Silent_p.P539P NM_001130025 NP_001123497 A6NFQ2 F115C_HUMAN hypothetical protein LOC285966 isoform A 820 0 AGGGAGCCCCCCTGTGTGACT 0.572 4 11 --- --- --- --- PASS ZNF862 643641 broad.mit.edu 37 7 149545452 149545452 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:149545452C>T uc010lpn.2 + 4 1062 c.870C>T c.(868-870)ATC>ATT p.I290I ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 AAAAAGAAATCACTGATGGCA 0.403 6 6 --- --- --- --- PASS NEIL2 252969 broad.mit.edu 37 8 11640745 11640745 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:11640745G>T uc003wug.2 + 4 1200 c.525G>T c.(523-525)CTG>CTT p.L175L NEIL2_uc003wue.2_Silent_p.L175L|NEIL2_uc003wuf.2_Silent_p.L114L|NEIL2_uc011kxd.1_Silent_p.L59L NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 175 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GTGGCTTCCTGGCATTTTATA 0.498 BER_DNA_glycosylases 18 13 --- --- --- --- PASS FBXO16 157574 broad.mit.edu 37 8 28309902 28309902 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:28309902C>A uc003xgu.2 - 6 697 c.599G>T c.(598-600)CGG>CTG p.R200L ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R187L|FBXO16_uc003xgw.2_Missense_Mutation_p.R187L NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 200 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) GGAAGAGGACCGAAAAGCTGA 0.423 13 16 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618799 77618799 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:77618799G>T uc003yav.2 + 2 2863 c.2476G>T c.(2476-2478)GCC>TCC p.A826S ZFHX4_uc003yat.1_Missense_Mutation_p.A826S|ZFHX4_uc003yau.1_Missense_Mutation_p.A826S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A826S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 826 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) GTACTACCTAGCCCAGAACAT 0.527 HNSCC(33;0.089) 9 21 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763701 77763701 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:77763701C>A uc003yav.2 + 10 4796 c.4409C>A c.(4408-4410)TCT>TAT p.S1470Y ZFHX4_uc003yau.1_Missense_Mutation_p.S1515Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1470Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1470 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) GACATGGGCTCTGAACCAAAG 0.448 HNSCC(33;0.089) 20 45 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95543306 95543306 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:95543306C>A uc003ygo.1 - 6 505 c.492G>T c.(490-492)GGG>GGT p.G164G KIAA1429_uc003ygp.2_Silent_p.G164G NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 164 Pro-rich. mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTTCTTTCTCCCCATCAGCTA 0.338 4 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113237043 113237043 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:113237043A>G uc003ynu.2 - 71 11240 c.11081T>C c.(11080-11082)GTA>GCA p.V3694A CSMD3_uc003yns.2_Missense_Mutation_p.V2896A|CSMD3_uc003ynt.2_Missense_Mutation_p.V3654A|CSMD3_uc011lhx.1_Missense_Mutation_p.V3525A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3694 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCAAATCGTACCGCCTTCCC 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 82 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113418774 113418774 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:113418774C>A uc003ynu.2 - 35 5947 c.5788G>T c.(5788-5790)GAT>TAT p.D1930Y CSMD3_uc003yns.2_Missense_Mutation_p.D1132Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1890Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1826Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1930 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTAAGGAATCATTCCACTGG 0.323 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 42 --- --- --- --- PASS NDRG1 10397 broad.mit.edu 37 8 134262695 134262695 + Missense_Mutation SNP T C C rs137993172 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:134262695T>C uc003yuh.2 - 10 1272 c.686A>G c.(685-687)AAT>AGT p.N229S NDRG1_uc003yuf.1_Missense_Mutation_p.N40S|NDRG1_uc003yug.2_Missense_Mutation_p.N229S|NDRG1_uc010mee.2_Missense_Mutation_p.N148S|NDRG1_uc010mef.2_Missense_Mutation_p.N163S|NDRG1_uc011ljh.1_Missense_Mutation_p.N57S|NDRG1_uc011lji.1_Intron NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 229 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GTTGTAGGCATTGATGAACAG 0.468 32 81 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164198 139164198 + Missense_Mutation SNP C A A rs139253577 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:139164198C>A uc003yuy.2 - 13 2691 c.2520G>T c.(2518-2520)CAG>CAT p.Q840H FAM135B_uc003yux.2_Missense_Mutation_p.Q741H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.Q402H|FAM135B_uc003yvb.2_Missense_Mutation_p.Q402H NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 840 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCCGGGGCCCTGCTGGTTGT 0.522 HNSCC(54;0.14) 19 40 --- --- --- --- PASS TOP1MT 116447 broad.mit.edu 37 8 144406775 144406775 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:144406775C>A uc003yxz.2 - 6 715 c.696G>T c.(694-696)CCG>CCT p.P232P TOP1MT_uc011lkd.1_Silent_p.P134P|TOP1MT_uc011lke.1_Silent_p.P134P|TOP1MT_uc010mfb.2_Silent_p.P134P|TOP1MT_uc011lkf.1_Silent_p.P27P|TOP1MT_uc010mfd.1_Silent_p.P27P NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 232 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) GGTGCCCCGCCGGCGGCTCGG 0.562 29 20 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144990859 144990859 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr8:144990859C>G uc003zaf.1 - 32 13711 c.13541G>C c.(13540-13542)GGC>GCC p.G4514A PLEC_uc003zab.1_Missense_Mutation_p.G4377A|PLEC_uc003zac.1_Missense_Mutation_p.G4381A|PLEC_uc003zad.2_Missense_Mutation_p.G4377A|PLEC_uc003zae.1_Missense_Mutation_p.G4345A|PLEC_uc003zag.1_Missense_Mutation_p.G4355A|PLEC_uc003zah.2_Missense_Mutation_p.G4363A|PLEC_uc003zaj.2_Missense_Mutation_p.G4404A NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4514 Globular 2.|Plectin 31. 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 GTAGAGCCAGCCCTTCTTCAG 0.672 9 24 --- --- --- --- PASS IFNA5 3442 broad.mit.edu 37 9 21305250 21305250 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:21305250G>T uc011lnh.1 - 1 6 c.6C>A c.(4-6)GCC>GCA p.A2A NM_002169 NP_002160 P01569 IFNA5_HUMAN interferon, alpha 5 precursor 2 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding ovary(1) 1 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAAAGGGCAAGGCCATTGGGG 0.507 22 11 --- --- --- --- PASS AQP7 364 broad.mit.edu 37 9 33385652 33385652 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:33385652G>A uc003zst.2 - 7 910 c.738C>T c.(736-738)GTC>GTT p.V246V SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.V189V|AQP7_uc010mjs.2_Silent_p.V154V|AQP7_uc010mjt.2_Silent_p.V154V|AQP7_uc011lnx.1_Silent_p.V246V|AQP7_uc011lny.1_Silent_p.V245V|AQP7_uc003zss.3_Silent_p.V154V|AQP7_uc011lnz.1_Silent_p.V154V|AQP7_uc011loa.1_Missense_Mutation_p.L115F NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 246 Extracellular (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AGTACCTGAAGACCTGTTTGC 0.607 5 49 --- --- --- --- PASS GALT 2592 broad.mit.edu 37 9 34647203 34647203 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:34647203G>A uc003zve.2 + 2 267 c.200G>A c.(199-201)CGC>CAC p.R67H GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.R19H|GALT_uc011lop.1_Missense_Mutation_p.R19H NM_000155 NP_000146 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 67 R -> C (in GALCT). galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) ACAGTGCCCCGCCATGACCCT 0.632 Galactosemia OREG0019158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 11 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74842874 74842874 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:74842874G>A uc004aiq.2 + 9 1021 c.838G>A c.(838-840)GGC>AGC p.G280S GDA_uc011lse.1_Missense_Mutation_p.G206S|GDA_uc011lsf.1_Missense_Mutation_p.G206S|GDA_uc004air.2_Missense_Mutation_p.G280S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.G202S|GDA_uc004ait.1_Missense_Mutation_p.G206S NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 280 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GATGGCACACGGCTGCTACCT 0.458 12 7 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77407667 77407667 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:77407667C>G uc004ajl.1 - 19 2649 c.2411G>C c.(2410-2412)AGG>ACG p.R804T TRPM6_uc004ajk.1_Missense_Mutation_p.R799T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 804 Extracellular (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ATCATGGCCCCTTTCCAAATC 0.368 12 6 --- --- --- --- PASS C9orf64 84267 broad.mit.edu 37 9 86570396 86570396 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:86570396G>C uc004anb.2 - 2 745 c.497C>G c.(496-498)TCT>TGT p.S166C C9orf64_uc004anc.2_Missense_Mutation_p.S25C NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 166 0 GTTGAGAAAAGAGCCTCCAAA 0.443 19 18 --- --- --- --- PASS WNK2 65268 broad.mit.edu 37 9 95993306 95993306 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:95993306A>T uc004ati.1 + 3 991 c.991A>T c.(991-993)ATC>TTC p.I331F WNK2_uc011lud.1_Missense_Mutation_p.I331F|WNK2_uc004atj.2_Missense_Mutation_p.I331F|WNK2_uc010mrc.1_Missense_Mutation_p.I331F|WNK2_uc010mrd.1_5'UTR NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 331 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CAATATTTTCATCACCGGACC 0.537 51 64 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104449076 104449076 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:104449076C>A uc004bbp.1 - 2 1707 c.1106G>T c.(1105-1107)GGT>GTT p.G369V GRIN3A_uc004bbq.1_Missense_Mutation_p.G369V NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 369 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TAAGGGCAGACCCTCTGTCCT 0.517 11 3 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107602611 107602611 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:107602611C>A uc004bcl.2 - 9 1316 c.1003G>T c.(1003-1005)GGA>TGA p.G335* NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 335 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATTGCCTCCAAAGAGGGCT 0.547 18 15 --- --- --- --- PASS TMEM38B 55151 broad.mit.edu 37 9 108536277 108536277 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr9:108536277C>A uc004bcu.1 + 6 909 c.792C>A c.(790-792)TCC>TCA p.S264S TMEM38B_uc010mtn.1_3'UTR NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 264 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 AGTCACCTTCCAATGGCGTTG 0.408 5 41 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27688069 27688069 + Silent SNP C T T rs140478412 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:27688069C>T uc001itu.2 - 4 1576 c.1458G>A c.(1456-1458)GCG>GCA p.A486A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 486 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TAGACACTGCCGCTTTTGAAT 0.423 42 26 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89717708 89717708 + Nonsense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:89717708C>T uc001kfb.2 + 8 1764 c.733C>T c.(733-735)CAG>TAG p.Q245* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 245 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q245*(6)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGAGTTCCCTCAGCCGTTACC 0.418 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 31 23 --- --- --- --- PASS DUSP5 1847 broad.mit.edu 37 10 112262559 112262559 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:112262559G>A uc001kzd.2 + 2 715 c.460G>A c.(460-462)GAG>AAG p.E154K NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 154 endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GATTGAGAGTGAGAGAGCCCT 0.453 28 53 --- --- --- --- PASS C10orf118 55088 broad.mit.edu 37 10 115891764 115891764 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:115891764T>C uc001lbb.1 - 11 2487 c.1835A>G c.(1834-1836)CAA>CGA p.Q612R C10orf118_uc009xyd.1_Missense_Mutation_p.Q210R|C10orf118_uc001lbc.1_Missense_Mutation_p.Q612R|C10orf118_uc009xye.1_RNA NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 612 Potential. ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TTTATCAAATTGTGACTGCAA 0.348 22 48 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115963163 115963163 + Missense_Mutation SNP T G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:115963163T>G uc001lbg.1 + 8 971 c.818T>G c.(817-819)TTC>TGC p.F273C TDRD1_uc001lbf.2_Missense_Mutation_p.F264C|TDRD1_uc001lbh.1_Missense_Mutation_p.F264C|TDRD1_uc001lbi.1_Missense_Mutation_p.F264C|TDRD1_uc010qsc.1_Translation_Start_Site|TDRD1_uc001lbj.2_Translation_Start_Site NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 273 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GTTACCGAATTCAAACACCCA 0.348 36 80 --- --- --- --- PASS WDR11 55717 broad.mit.edu 37 10 122666322 122666322 + Missense_Mutation SNP G A A rs141544883 TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:122666322G>A uc010qtf.1 + 28 3710 c.3472G>A c.(3472-3474)GAA>AAA p.E1158K WDR11_uc010qte.1_Missense_Mutation_p.E760K|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 1158 integral to membrane 0 CTTATTTGTGGAAGCTTGCCT 0.433 23 51 --- --- --- --- PASS WDR11 55717 broad.mit.edu 37 10 122666349 122666349 + Nonsense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr10:122666349G>T uc010qtf.1 + 28 3737 c.3499G>T c.(3499-3501)GAA>TAA p.E1167* WDR11_uc010qte.1_Nonsense_Mutation_p.E769*|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 1167 integral to membrane 0 TGGAGCATTTGAAGTCACTGA 0.418 23 50 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1018514 1018514 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:1018514G>T uc001lsw.2 - 31 4338 c.4287C>A c.(4285-4287)GCC>GCA p.A1429A NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1429 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGTAGTGGTGGCATGGAAAG 0.567 9 156 --- --- --- --- PASS BRSK2 9024 broad.mit.edu 37 11 1467072 1467072 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:1467072C>A uc001lti.2 + 12 1547 c.1161C>A c.(1159-1161)AGC>AGA p.S387R BRSK2_uc009ycv.1_Missense_Mutation_p.S387R|BRSK2_uc001lth.1_Missense_Mutation_p.S387R|BRSK2_uc001ltj.2_Missense_Mutation_p.S387R|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.S387R|BRSK2_uc001ltm.2_Missense_Mutation_p.S433R|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 387 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGGTGCTCAGCGTGACGGACG 0.692 5 12 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5080752 5080752 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:5080752C>G uc010qyw.1 - 1 106 c.106G>C c.(106-108)GTG>CTG p.V36L NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ATCATGTACACAGCACAGAAG 0.512 4 24 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969164 5969164 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:5969164C>T uc010qzt.1 + 1 588 c.588C>T c.(586-588)GTC>GTT p.V196V NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGATGATGTCACCATCAATC 0.473 6 56 --- --- --- --- PASS DENND5A 23258 broad.mit.edu 37 11 9167295 9167295 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:9167295T>C uc001mhl.2 - 17 3180 c.2925A>G c.(2923-2925)CCA>CCG p.P975P DENND5A_uc001mhk.2_Silent_p.P318P|DENND5A_uc010rbw.1_Silent_p.P975P|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 975 PLAT. liver(1) 1 TACAGATCCATGGGTTGGCAG 0.488 87 95 --- --- --- --- PASS MUC15 143662 broad.mit.edu 37 11 26584733 26584733 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:26584733G>A uc001mqx.2 - 3 1040 c.774C>T c.(772-774)TAC>TAT p.Y258Y ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.Y285Y|MUC15_uc001mqy.2_Intron NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 258 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CACACAACAAGTAGCCCACAA 0.383 39 50 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30974037 30974037 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:30974037C>T uc009yjk.1 - 9 1083 c.1014G>A c.(1012-1014)AAG>AAA p.K338K uc009yjl.1_Intron|DCDC1_uc001msu.1_Silent_p.K509K RecName: Full=Doublecortin domain-containing protein 5; TGTAGGTAAGCTTGTTCCATA 0.423 13 26 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33564652 33564652 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:33564652G>T uc001mup.3 + 1 776 c.652G>T c.(652-654)GCC>TCC p.A218S C11orf41_uc001mun.1_Missense_Mutation_p.A218S NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 218 integral to membrane ovary(2) 2 AGAGAATCATGCCTCCCCATC 0.557 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 58 --- --- --- --- PASS HSD17B12 51144 broad.mit.edu 37 11 43775641 43775641 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:43775641G>T uc001mxq.3 + 3 488 c.253G>T c.(253-255)GAT>TAT p.D85Y HSD17B12_uc001mxp.2_RNA NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 85 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity 0 CAGATCAAAGGATAAACTTGA 0.358 19 83 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346875 48346875 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:48346875G>C uc010rhv.1 + 1 383 c.383G>C c.(382-384)GGA>GCA p.G128A NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CAGCTCTTTGGAGCTCATTTT 0.458 6 120 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49207291 49207291 + Silent SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:49207291A>T uc001ngy.2 - 6 1017 c.756T>A c.(754-756)GGT>GGA p.G252G FOLH1_uc001ngz.2_Silent_p.G252G|FOLH1_uc009yly.2_Silent_p.G237G|FOLH1_uc009ylz.2_Silent_p.G237G|FOLH1_uc009yma.2_Intron NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 252 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) CACGCTGGACACCACCTCCAG 0.498 6 30 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032605 55032605 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55032605C>G uc010rid.1 + 2 360 c.274C>G c.(274-276)CTT>GTT p.L92V NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 76 intracellular zinc ion binding 0 GATGGCTTCCCTTGCCAGAAA 0.448 9 48 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579833 55579833 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55579833G>T uc001nhw.1 + 1 891 c.891G>T c.(889-891)GTG>GTT p.V297V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) ATAAAGATGTGAAAGAAGCTC 0.458 7 30 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703750 55703750 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55703750C>A uc010ris.1 - 1 127 c.127G>T c.(127-129)GGG>TGG p.G43W NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCAATGTTCCCTATCAGAATT 0.393 16 41 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798323 55798323 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55798323C>A uc010riw.1 + 1 429 c.429C>A c.(427-429)TGC>TGA p.C143* NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCTGTGTCTGCTTCATTGTGT 0.468 27 36 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873110 55873110 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55873110C>T uc010riy.1 + 1 592 c.592C>T c.(592-594)CTG>TTG p.L198L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CACCGAAATCCTGATATTCAT 0.388 HNSCC(53;0.14) 53 78 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944669 55944669 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:55944669C>T uc010rjb.1 + 1 576 c.576C>T c.(574-576)ACC>ACT p.T192T NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GTTCTGACACCTCCATGAATG 0.453 18 44 --- --- --- --- PASS MS4A7 58475 broad.mit.edu 37 11 60156870 60156870 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:60156870G>A uc001npe.2 + 5 492 c.347G>A c.(346-348)AGC>AAC p.S116N MS4A7_uc001npf.2_Missense_Mutation_p.S116N|MS4A7_uc001npg.2_Missense_Mutation_p.S71N|MS4A7_uc001nph.2_Missense_Mutation_p.S71N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.S71N NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 116 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 CAGGACCTGAGCAGCTTGACC 0.448 7 23 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183336 60183336 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:60183336G>T uc001npj.2 + 5 1460 c.895G>T c.(895-897)GCG>TCG p.A299S MS4A14_uc001npi.2_Missense_Mutation_p.A187S|MS4A14_uc001npn.2_Missense_Mutation_p.A37S|MS4A14_uc001npk.2_Missense_Mutation_p.A282S|MS4A14_uc001npl.2_Missense_Mutation_p.A37S|MS4A14_uc001npm.2_Missense_Mutation_p.A37S NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 299 integral to membrane receptor activity breast(1) 1 GGACCAAGCTGCGTCACTCCA 0.423 13 37 --- --- --- --- PASS RAD9A 5883 broad.mit.edu 37 11 67164770 67164770 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:67164770C>A uc001okr.2 + 10 1086 c.993C>A c.(991-993)CCC>CCA p.P331P RAD9A_uc001oks.2_Silent_p.P188P NM_004584 NP_004575 Q99638 RAD9A_HUMAN RAD9 homolog 331 Sufficient for interaction with ABL1. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CACCTGGCCCCCAGCCCCCCA 0.602 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 3 5 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68673578 68673578 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:68673578G>T uc001ook.1 + 2 230 c.128G>T c.(127-129)CGA>CTA p.R43L IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 43 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCCAGAGCCGAGGCGTGTGT 0.572 6 73 --- --- --- --- PASS CAPN5 726 broad.mit.edu 37 11 76831861 76831861 + Nonsense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:76831861G>T uc001oxx.2 + 10 1578 c.1393G>T c.(1393-1395)GAG>TAG p.E465* CAPN5_uc009yup.2_Nonsense_Mutation_p.E505*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.E501*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.E505*|CAPN5_uc001oya.2_Nonsense_Mutation_p.E27* NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 465 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 CGACCAGCCCGAGGGCCGCTA 0.617 8 63 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89069063 89069063 + Silent SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:89069063T>A uc001pct.2 - 17 1805 c.1566A>T c.(1564-1566)GGA>GGT p.G522G NOX4_uc009yvr.2_Silent_p.G497G|NOX4_uc001pcu.2_Silent_p.G448G|NOX4_uc001pcw.2_Silent_p.G215G|NOX4_uc001pcx.2_Silent_p.G175G|NOX4_uc001pcv.2_Silent_p.G482G|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.G335G|NOX4_uc009yvp.2_Silent_p.G286G|NOX4_uc010rtv.1_Silent_p.G458G|NOX4_uc009yvq.2_Silent_p.G498G NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 522 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ACCGAGGACGTCCTATAAACA 0.303 6 49 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95713100 95713100 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:95713100G>A uc001pfw.1 - 5 3768 c.2483C>T c.(2482-2484)TCT>TTT p.S828F NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 828 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) AGCCTGGTTAGAGTTTAAGCT 0.408 T MECT1|CRTC3 salivary gland mucoepidermoid 16 16 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 102988531 102988531 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:102988531C>G uc001pho.2 + 6 1082 c.938C>G c.(937-939)CCA>CGA p.P313R DYNC2H1_uc001phn.1_Missense_Mutation_p.P313R|DYNC2H1_uc009yxe.1_Missense_Mutation_p.P313R NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 313 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTTCCTCATCCATGGAAAAAT 0.368 3 37 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107299812 107299812 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:107299812C>A uc010rvp.1 - 8 1176 c.1146G>T c.(1144-1146)AAG>AAT p.K382N CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 382 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) ATTTTCTGCCCTTGCTGTGAA 0.398 21 35 --- --- --- --- PASS DDX10 1662 broad.mit.edu 37 11 108547817 108547817 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:108547817G>T uc001pkm.2 + 4 449 c.384G>T c.(382-384)CTG>CTT p.L128L DDX10_uc001pkl.1_Silent_p.L128L NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 128 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TTGAGGTGCTGGAAGCCTTAT 0.458 T NUP98 AML* 5 48 --- --- --- --- PASS TMEM225 338661 broad.mit.edu 37 11 123755245 123755245 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:123755245G>C uc001pzi.2 - 2 488 c.280C>G c.(280-282)CAA>GAA p.Q94E NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 94 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 TATTTATTTTGAGGAATCAGA 0.428 16 19 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123901086 123901086 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:123901086C>A uc001pzp.1 + 1 757 c.757C>A c.(757-759)CCT>ACT p.P253T NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTTCTTTGGCCCTGGTCTTTT 0.552 6 35 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294600 124294600 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:124294600G>T uc010sak.1 - 1 168 c.168C>A c.(166-168)CAC>CAA p.H56Q NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACATGGGGGTGTGAAGGCTAG 0.418 16 27 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124763909 124763909 + Missense_Mutation SNP T G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:124763909T>G uc001qbg.2 - 9 1491 c.1351A>C c.(1351-1353)AGT>CGT p.S451R ROBO4_uc010sas.1_Missense_Mutation_p.S306R|ROBO4_uc001qbh.2_Missense_Mutation_p.S341R|ROBO4_uc001qbi.2_Missense_Mutation_p.S9R|ROBO4_uc010sat.1_Missense_Mutation_p.S9R NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 451 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCATGCTCACTGGGTTCTTGG 0.627 6 6 --- --- --- --- PASS STT3A 3703 broad.mit.edu 37 11 125472288 125472288 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:125472288G>A uc001qcd.2 + 4 350 c.240G>A c.(238-240)TTG>TTA p.L80L STT3A_uc009zbm.2_Silent_p.L80L|STT3A_uc001qce.2_Silent_p.L80L|STT3A_uc010sbg.1_5'UTR NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 80 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GGTACCCTTTGGGACGAATCA 0.393 5 21 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134038450 134038450 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr11:134038450C>A uc001qhd.1 - 26 3893 c.3287G>T c.(3286-3288)CGA>CTA p.R1096L NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_Intron|NCAPD3_uc001qhc.1_Missense_Mutation_p.R46L NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1096 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GATTTTCATTCGTCTCTCTTT 0.443 5 28 --- --- --- --- PASS SLC6A12 6539 broad.mit.edu 37 12 319118 319118 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:319118G>T uc001qhz.2 - 4 578 c.35C>A c.(34-36)CCT>CAT p.P12H SLC6A12_uc001qia.2_Missense_Mutation_p.P12H|SLC6A12_uc001qib.2_Missense_Mutation_p.P12H|SLC6A12_uc009zdh.1_Missense_Mutation_p.P12H|SLC6A12_uc009zdi.1_RNA NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 12 Cytoplasmic (Potential). 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) GACTGCAGGAGGCCCACACTC 0.622 16 37 --- --- --- --- PASS NRIP2 83714 broad.mit.edu 37 12 2943895 2943895 + Silent SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:2943895G>C uc001qlc.2 - 1 327 c.255C>G c.(253-255)CTC>CTG p.L85L NRIP2_uc010sed.1_Silent_p.L85L|uc009zdz.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 85 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGGCCTGTTTGAGCCGGCGCT 0.657 17 68 --- --- --- --- PASS KIAA1467 57613 broad.mit.edu 37 12 13220127 13220127 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:13220127C>G uc001rbi.2 + 7 1062 c.1039C>G c.(1039-1041)CAG>GAG p.Q347E KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 347 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CATTTTTGTTCAGGCCCAAAA 0.458 32 49 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19440426 19440426 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:19440426G>A uc001reb.2 + 12 1867 c.1781G>A c.(1780-1782)AGA>AAA p.R594K PLEKHA5_uc010sie.1_Missense_Mutation_p.R600K|PLEKHA5_uc001rea.2_Missense_Mutation_p.R594K|PLEKHA5_uc009zin.2_Missense_Mutation_p.R352K|PLEKHA5_uc010sif.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sig.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sih.1_Missense_Mutation_p.R486K|PLEKHA5_uc001rec.1_Missense_Mutation_p.R282K NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 594 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GTGCCTGACAGAAGGTCAGTG 0.388 19 70 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22635541 22635541 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:22635541C>A uc001rfq.2 - 14 1915 c.1687G>T c.(1687-1689)GGA>TGA p.G563* KIAA0528_uc010sir.1_Nonsense_Mutation_p.G378*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.G563*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.G565*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.G563*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.G554*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.G565* NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 563 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 ATTCTTAGTCCAAACAAAGCA 0.323 43 45 --- --- --- --- PASS TMEM117 84216 broad.mit.edu 37 12 44782229 44782229 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:44782229C>A uc001rod.2 + 8 1385 c.1319C>A c.(1318-1320)TCA>TAA p.S440* TMEM117_uc001roe.2_Nonsense_Mutation_p.S336*|TMEM117_uc009zkc.2_3'UTR NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 440 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) AAATCTCCATCAGAACATAGC 0.408 32 48 --- --- --- --- PASS RPAP3 79657 broad.mit.edu 37 12 48090172 48090172 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:48090172G>A uc001rpr.2 - 5 548 c.432C>T c.(430-432)TTC>TTT p.F144F RPAP3_uc010slk.1_5'UTR|RPAP3_uc001rps.2_Silent_p.F144F NM_024604 NP_078880 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 isoform 144 TPR 2. binding ovary(1) 1 Lung SC(27;0.192) TTCCTTGTTTGAAGTATTTAT 0.284 8 24 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54109789 54109789 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:54109789C>G uc001sef.2 - 9 1192 c.1048G>C c.(1048-1050)GAG>CAG p.E350Q CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.E265Q|CALCOCO1_uc010son.1_Missense_Mutation_p.E227Q|CALCOCO1_uc001seh.2_Missense_Mutation_p.E350Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.E350Q|CALCOCO1_uc001seg.2_Missense_Mutation_p.E175Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.E343Q NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 350 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GCTGCAAGCTCCTGGGCCCCT 0.597 3 11 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57605310 57605310 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:57605310G>T uc001snd.2 + 85 13598 c.13132G>T c.(13132-13134)GTC>TTC p.V4378F NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4378 Extracellular (Potential).|EGF-like 22. 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) TCTGACCTGCGTCGGCCACTG 0.637 8 11 --- --- --- --- PASS R3HDM2 22864 broad.mit.edu 37 12 57662127 57662127 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:57662127C>T uc009zpm.1 - 16 1982 c.1947G>A c.(1945-1947)GTG>GTA p.V649V R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.V344V|R3HDM2_uc001snr.2_Silent_p.V376V|R3HDM2_uc001sns.2_Silent_p.V649V|R3HDM2_uc001snt.2_Silent_p.V663V|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 649 Gln-rich. nucleus nucleic acid binding ovary(2) 2 TGCTATAGTACACTGGTACCC 0.582 12 45 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70918334 70918334 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:70918334A>T uc001swb.3 - 31 5918 c.5888T>A c.(5887-5889)GTC>GAC p.V1963D uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.V1873D|PTPRB_uc010stp.1_Missense_Mutation_p.V1873D|PTPRB_uc001swc.3_Missense_Mutation_p.V2181D|PTPRB_uc001swa.3_Missense_Mutation_p.V2093D NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1963 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTCTGAGGACATCTCTTAC 0.433 17 54 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77208951 77208951 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:77208951G>C uc001syk.1 + 6 732 c.569G>C c.(568-570)GGA>GCA p.G190A ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 190 ANK 4.|Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 GATCAGAATGGAATGACGCCT 0.303 4 4 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85441059 85441059 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:85441059G>T uc001tac.2 + 6 600 c.489G>T c.(487-489)GTG>GTT p.V163V LRRIQ1_uc001tab.1_Silent_p.V163V|LRRIQ1_uc001taa.1_Silent_p.V163V|LRRIQ1_uc001tad.2_Silent_p.V71V NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 163 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ACTGTGAAGTGGAAGAAAAAT 0.338 5 62 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88420267 88420267 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:88420267C>G uc001tam.1 - 3 299 c.131G>C c.(130-132)AGC>ACC p.S44T C12orf50_uc001tan.2_Missense_Mutation_p.S98T NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 44 skin(2)|ovary(1) 3 GTACTCACTGCTACTTGGTGG 0.368 10 24 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95611630 95611630 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:95611630A>G uc001tdz.2 + 1 109 c.4A>G c.(4-6)ACA>GCA p.T2A FGD6_uc001tdp.3_5'Flank|FGD6_uc009zsx.2_5'Flank|VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.T2A|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'Flank NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 2 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 GAGAAGGATGACACCGGAGTT 0.582 13 15 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101368626 101368626 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:101368626A>T uc010svm.1 + 7 1133 c.561A>T c.(559-561)AGA>AGT p.R187S ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R152S|ANO4_uc001thx.2_Missense_Mutation_p.R187S NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 187 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CTTCCAGGAGAAAAATCTATT 0.463 HNSCC(74;0.22) 20 59 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104030921 104030921 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:104030921G>C uc001tjw.2 + 7 802 c.616G>C c.(616-618)GAA>CAA p.E206Q NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 206 Extracellular (Potential).|EGF-like 3. 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 GCTCTGCCCAGAAAATTCCAG 0.453 35 39 --- --- --- --- PASS C13orf23 80209 broad.mit.edu 37 13 39587671 39587671 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:39587671A>T uc001uwy.2 - 11 2591 c.1718T>A c.(1717-1719)GTT>GAT p.V573D C13orf23_uc001uwz.2_Missense_Mutation_p.V551D NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 573 Ser-rich. ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GCCACAGCTAACTGGCACTGA 0.557 30 30 --- --- --- --- PASS TSC22D1 8848 broad.mit.edu 37 13 45148757 45148757 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:45148757C>A uc001uzn.3 - 1 1945 c.1454G>T c.(1453-1455)GGA>GTA p.G485V TSC22D1_uc001uzo.1_Missense_Mutation_p.G485V NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 485 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CTCTCCACTTCCCACACTCTC 0.413 18 30 --- --- --- --- PASS CYSLTR2 57105 broad.mit.edu 37 13 49281313 49281313 + Silent SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:49281313C>G uc010acx.1 + 6 1043 c.360C>G c.(358-360)GTC>GTG p.V120V CYSLTR2_uc010acy.1_Silent_p.V120V|CYSLTR2_uc010acz.1_Silent_p.V120V|CYSLTR2_uc010ada.1_Silent_p.V120V|CYSLTR2_uc010adb.1_Silent_p.V120V|CYSLTR2_uc010adc.1_Silent_p.V120V|CYSLTR2_uc010add.1_Silent_p.V120V|CYSLTR2_uc010acw.1_Silent_p.V120V|CYSLTR2_uc001vck.2_Silent_p.V120V NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 120 Extracellular (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) CCTTGTATGTCAACATGTACA 0.468 22 34 --- --- --- --- PASS THSD1 55901 broad.mit.edu 37 13 52971859 52971859 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:52971859C>T uc001vgo.2 - 3 1074 c.529G>A c.(529-531)GAG>AAG p.E177K THSD1_uc001vgp.2_Missense_Mutation_p.E177K|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 177 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTTCTTGCCTCAGGAAGACTG 0.502 13 15 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77672952 77672952 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:77672952C>T uc001vkf.2 - 57 8314 c.8223G>A c.(8221-8223)TTG>TTA p.L2741L MYCBP2_uc010aev.2_Silent_p.L2145L|MYCBP2_uc001vkg.1_Silent_p.L264L|MYCBP2_uc010aew.2_Silent_p.L127L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2741 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AATCTGACCTCAACTTTGCAG 0.473 29 31 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92380910 92380910 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:92380910A>G uc010tif.1 + 4 1511 c.1145A>G c.(1144-1146)AAC>AGC p.N382S NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 382 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACGCTTGCCAACAGAAGAAAG 0.368 39 50 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110827678 110827678 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:110827678C>A uc001vqw.3 - 37 3207 c.3085G>T c.(3085-3087)GGC>TGC p.G1029C COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1029 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAGGGATGCCAGGCACACCT 0.507 7 5 --- --- --- --- PASS F7 2155 broad.mit.edu 37 13 113768231 113768231 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr13:113768231C>T uc001vsv.2 + 5 438 c.387C>T c.(385-387)ATC>ATT p.I129I F7_uc010agp.1_Silent_p.I122I|F7_uc001vsw.2_Silent_p.I107I|F7_uc010tjt.1_Silent_p.I60I NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 129 EGF-like 1; calcium-binding (Potential). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AGTCCTATATCTGCTTCTGCC 0.602 11 11 --- --- --- --- PASS OR11H4 390442 broad.mit.edu 37 14 20711715 20711715 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:20711715G>A uc010tld.1 + 1 765 c.765G>A c.(763-765)TTG>TTA p.L255L NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GTTCTCATTTGGTTGTGGTAT 0.418 45 53 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23884939 23884939 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:23884939C>G uc001wjx.2 - 35 5162 c.5056G>C c.(5056-5058)GAG>CAG p.E1686Q NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1686 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGCAACTCCTCCAGCTCAGCC 0.622 4 32 --- --- --- --- PASS C14orf21 161424 broad.mit.edu 37 14 24772988 24772988 + Silent SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:24772988C>G uc001wol.1 + 7 1398 c.1335C>G c.(1333-1335)CTC>CTG p.L445L C14orf21_uc001wom.1_5'UTR NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 445 RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) GTGTGCCTCTCTTTGCCACTT 0.552 12 33 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35240723 35240723 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:35240723G>C uc001wsk.2 - 21 3863 c.3295C>G c.(3295-3297)CCA>GCA p.P1099A BAZ1A_uc001wsl.2_Missense_Mutation_p.P1067A NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1099 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTACCAAGTGGAGCTTTCAGA 0.363 40 118 --- --- --- --- PASS INSM2 84684 broad.mit.edu 37 14 36004316 36004316 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:36004316C>A uc001wth.1 + 1 1069 c.858C>A c.(856-858)ATC>ATA p.I286I NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) GCTCCCGCATCGTGCGCGTAG 0.677 9 16 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56085932 56085932 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:56085932C>A uc001xcb.2 + 6 1167 c.865C>A c.(865-867)CTG>ATG p.L289M KTN1_uc001xce.2_Missense_Mutation_p.L289M|KTN1_uc001xcc.2_Missense_Mutation_p.L289M|KTN1_uc001xcd.2_Missense_Mutation_p.L289M|KTN1_uc010trb.1_Missense_Mutation_p.L289M|KTN1_uc001xcf.1_Missense_Mutation_p.L289M NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 289 Lumenal (Potential). microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 AGATTTTCTTCTGTCCTTGAA 0.313 T RET papillary thryoid 10 39 --- --- --- --- PASS SLC38A6 145389 broad.mit.edu 37 14 61517235 61517235 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:61517235G>C uc001xfg.1 + 13 1047 c.931G>C c.(931-933)GTG>CTG p.V311L SLC38A6_uc001xfh.1_Missense_Mutation_p.V311L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.V288L NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 311 amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TACAGACAAAGTGGAGTCAGA 0.294 4 23 --- --- --- --- PASS NEK9 91754 broad.mit.edu 37 14 75587213 75587213 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:75587213C>A uc001xrl.2 - 4 678 c.524G>T c.(523-525)AGA>ATA p.R175I NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 175 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) TACTTCTTACCTATGAAGGAT 0.398 5 46 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76948971 76948971 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:76948971C>A uc001xsq.1 + 5 723 c.656C>A c.(655-657)GCT>GAT p.A219D ESRRB_uc001xsr.2_Missense_Mutation_p.A219D|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTACTGGTGGCTGAGCCGGAC 0.567 8 24 --- --- --- --- PASS C14orf4 64207 broad.mit.edu 37 14 77492209 77492209 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:77492209C>T uc001xsy.2 - 1 2826 c.1927G>A c.(1927-1929)GGC>AGC p.G643S NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 643 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) ACGGAACTGCCATCCTTGGGC 0.672 6 6 --- --- --- --- PASS C14orf145 145508 broad.mit.edu 37 14 81302659 81302659 + Missense_Mutation SNP A C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:81302659A>C uc001xux.2 - 11 1118 c.947T>G c.(946-948)CTT>CGT p.L316R C14orf145_uc010asz.1_RNA|C14orf145_uc001xuz.2_Missense_Mutation_p.L316R|C14orf145_uc001xuy.1_Missense_Mutation_p.L174R NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 316 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TGCTTTCGTAAGTTGTGTACG 0.408 10 78 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103442072 103442072 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:103442072C>G uc001ymi.1 - 11 1688 c.1456G>C c.(1456-1458)GAA>CAA p.E486Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 486 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTTTTGATTTCTTTATCTCGG 0.448 15 69 --- --- --- --- PASS KIAA0284 283638 broad.mit.edu 37 14 105344820 105344820 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:105344820C>T uc010axb.2 + 5 539 c.315C>T c.(313-315)GTC>GTT p.V105V INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.V35V|KIAA0284_uc001yps.2_Silent_p.V11V NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 105 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) AGCACCGAGTCCCGGAGGAGG 0.627 19 18 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105405698 105405698 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr14:105405698T>A uc010axc.1 - 7 16210 c.16090A>T c.(16090-16092)ATG>TTG p.M5364L AHNAK2_uc001ypx.2_Missense_Mutation_p.M5264L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5364 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGATGGCATATCAGTACTT 0.443 10 41 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31294476 31294476 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:31294476T>C uc001zfm.2 - 27 4489 c.4361A>G c.(4360-4362)CAG>CGG p.Q1454R TRPM1_uc010azy.2_Missense_Mutation_p.Q1361R|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1454 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTCTACATCCTGGTTAACCCC 0.468 31 43 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43527676 43527676 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:43527676G>T uc001zrd.1 - 10 1713 c.1705C>A c.(1705-1707)CCT>ACT p.P569T TGM5_uc001zrc.1_Missense_Mutation_p.P226T|TGM5_uc001zre.1_Missense_Mutation_p.P487T NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 569 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CCTTCTTTAGGAGAGAGTGTG 0.557 4 24 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50158593 50158593 + Missense_Mutation SNP A C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:50158593A>C uc001zxu.2 - 26 3258 c.3116T>G c.(3115-3117)ATG>AGG p.M1039R ATP8B4_uc010ber.2_Missense_Mutation_p.M912R|ATP8B4_uc010ufd.1_Missense_Mutation_p.M849R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.M42R NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1039 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 skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATTACTGTGCATTGTAAATAA 0.393 11 49 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54707216 54707216 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:54707216C>T uc002ack.2 + 17 4884 c.4884C>T c.(4882-4884)GCC>GCT p.A1628A UNC13C_uc002acl.2_Silent_p.A458A NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1628 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAATAAGTGCCGAAATTATGT 0.313 6 44 --- --- --- --- PASS LCTL 197021 broad.mit.edu 37 15 66850219 66850219 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:66850219G>T uc002aqc.2 - 8 895 c.763C>A c.(763-765)CTG>ATG p.L255M LCTL_uc002aqd.3_Missense_Mutation_p.L82M|LCTL_uc010bhw.2_Translation_Start_Site NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 255 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 ATTCCCACCAGACCTTAAAAG 0.537 38 45 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68624279 68624279 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:68624279C>T uc002ari.2 - 14 1775 c.1688G>A c.(1687-1689)GGA>GAA p.G563E ITGA11_uc010bib.2_Missense_Mutation_p.G563E NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 563 FG-GAP 6.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CAGGGGGGCTCCCACCACCAC 0.562 5 9 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83358145 83358145 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:83358145C>T uc010uoh.1 - 2 351 c.174G>A c.(172-174)ATG>ATA p.M58I AP3B2_uc010uoi.1_Missense_Mutation_p.M58I|AP3B2_uc010uoj.1_Missense_Mutation_p.M58I|AP3B2_uc010uok.1_Missense_Mutation_p.M58I NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 58 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CAATCCTCTTCATGGCCTCCA 0.587 11 14 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85407730 85407730 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:85407730G>A uc002ble.2 + 12 5330 c.5163G>A c.(5161-5163)CTG>CTA p.L1721L ALPK3_uc010upc.1_Silent_p.L22L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1721 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGCTACCCTGGAGGAAGACC 0.532 16 35 --- --- --- --- PASS PDE8A 5151 broad.mit.edu 37 15 85661024 85661024 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:85661024A>T uc002blh.2 + 17 1877 c.1688A>T c.(1687-1689)GAT>GTT p.D563V PDE8A_uc002bli.2_Missense_Mutation_p.D517V|PDE8A_uc010bnc.2_Missense_Mutation_p.D316V|PDE8A_uc010bnd.2_Missense_Mutation_p.D316V|PDE8A_uc002blj.2_Missense_Mutation_p.D183V|PDE8A_uc002blk.2_Missense_Mutation_p.D183V|PDE8A_uc002bll.2_5'Flank NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 563 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CATTCTGCTGATGTGCTTCAT 0.448 35 63 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98509239 98509239 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr15:98509239T>C uc010bom.2 + 3 648 c.489T>C c.(487-489)GTT>GTC p.V163V ARRDC4_uc002bui.3_Silent_p.V76V NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 163 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TCCAGGTTGTTAGTCATGTCG 0.333 5 39 --- --- --- --- PASS RHOT2 89941 broad.mit.edu 37 16 722740 722740 + Missense_Mutation SNP C T T rs150996889 byFrequency TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:722740C>T uc002cip.2 + 17 1509 c.1442C>T c.(1441-1443)TCG>TTG p.S481L RHOT2_uc002ciq.2_Missense_Mutation_p.S374L|RHOT2_uc010bqy.2_Missense_Mutation_p.S260L|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 481 Miro 2.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) CTGGCCACATCGCTGGACGCC 0.622 6 11 --- --- --- --- PASS TIGD7 91151 broad.mit.edu 37 16 3349210 3349210 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:3349210C>G uc002cus.2 - 1 2191 c.1405G>C c.(1405-1407)GAG>CAG p.E469Q ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 469 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GTCTGCTTCTCAGCTTCTCCT 0.398 47 69 --- --- --- --- PASS UBN1 29855 broad.mit.edu 37 16 4924300 4924300 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:4924300G>A uc002cyb.2 + 15 2228 c.1889G>A c.(1888-1890)GGA>GAA p.G630E UBN1_uc010uxw.1_Missense_Mutation_p.G630E|UBN1_uc002cyc.2_Missense_Mutation_p.G630E NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 630 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CACCAAACAGGAGGCCTGAGT 0.542 20 85 --- --- --- --- PASS TNP2 7142 broad.mit.edu 37 16 11362982 11362982 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:11362982G>C uc002das.2 - 1 179 c.138C>G c.(136-138)AGC>AGG p.S46R C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to 46 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 TGGAGCTCTGGCTCCGGCTGC 0.632 12 39 --- --- --- --- PASS KIAA0430 9665 broad.mit.edu 37 16 15690595 15690595 + Silent SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:15690595G>C uc002ddr.2 - 27 5377 c.5184C>G c.(5182-5184)GTC>GTG p.V1728V KIAA0430_uc002ddq.2_Silent_p.V1562V|KIAA0430_uc010uzv.1_Silent_p.V1724V|KIAA0430_uc010uzw.1_Silent_p.V1727V NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1727 peroxisome nucleotide binding|RNA binding 0 CTGCCAATTTGACTCTATTTT 0.498 20 29 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18847402 18847402 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:18847402C>A uc002dfm.2 - 48 8273 c.7910G>T c.(7909-7911)TGT>TTT p.C2637F SMG1_uc010bwb.2_Missense_Mutation_p.C2497F|SMG1_uc010bwa.2_Missense_Mutation_p.C1368F NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2637 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TTGCTCCAGACAGCCACGGAG 0.567 4 15 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19027784 19027784 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:19027784G>C uc002dfq.2 + 3 454 c.324G>C c.(322-324)GAG>GAC p.E108D TMC7_uc010vao.1_Missense_Mutation_p.E108D|TMC7_uc002dfp.2_Missense_Mutation_p.E108D|TMC7_uc010vap.1_5'UTR NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 108 Extracellular (Potential). integral to membrane skin(2)|ovary(1) 3 ACATTCAAGAGACACAAATGA 0.418 4 39 --- --- --- --- PASS CP110 9738 broad.mit.edu 37 16 19548053 19548053 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:19548053C>G uc002dgl.3 + 4 1309 c.1062C>G c.(1060-1062)ATC>ATG p.I354M CP110_uc002dgk.3_Missense_Mutation_p.I354M O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 354 Interaction with CEP76. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 ATAATGTTATCAAAAGTCTTA 0.398 7 25 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20565212 20565212 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:20565212C>A uc002dhj.3 - 6 837 c.627G>T c.(625-627)GAG>GAT p.E209D ACSM2B_uc002dhk.3_Missense_Mutation_p.E209D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E209D NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 209 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GGCTTCCAGTCTCCACACAGT 0.502 5 46 --- --- --- --- PASS CACNG3 10368 broad.mit.edu 37 16 24372945 24372945 + Missense_Mutation SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:24372945T>C uc002dmf.2 + 4 1909 c.709T>C c.(709-711)TCT>CCT p.S237P NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 237 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCGGTCAAGTTCTCGCTCCAC 0.567 7 42 --- --- --- --- PASS MT1A 4489 broad.mit.edu 37 16 56673832 56673832 + Silent SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:56673832G>C uc002ejq.2 + 3 229 c.156G>C c.(154-156)GGG>GGC p.G52G MT1A_uc002eji.2_RNA NM_005946 NP_005937 P04731 MT1A_HUMAN metallothionein 1A 52 Alpha. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding 0 TCTGCAAAGGGGCATCAGAGA 0.542 12 48 --- --- --- --- PASS RSPRY1 89970 broad.mit.edu 37 16 57250871 57250871 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:57250871G>T uc002elb.2 + 8 1103 c.825G>T c.(823-825)TTG>TTT p.L275F RSPRY1_uc002elc.2_Missense_Mutation_p.L275F|RSPRY1_uc002eld.2_Missense_Mutation_p.L275F NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 275 extracellular region zinc ion binding ovary(1) 1 TTGTCACATTGGAGTCCTGGG 0.393 5 42 --- --- --- --- PASS WWP2 11060 broad.mit.edu 37 16 69874130 69874130 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:69874130C>T uc002exu.1 + 6 531 c.442C>T c.(442-444)CTG>TTG p.L148L WWP2_uc002ext.2_Silent_p.L148L|WWP2_uc002exv.1_Silent_p.L148L|WWP2_uc010vlm.1_Silent_p.L32L NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 148 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 AACTGTTGATCTGGGAAATGT 0.612 7 32 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77398203 77398203 + Nonsense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:77398203G>C uc002ffc.3 - 5 1273 c.854C>G c.(853-855)TCA>TGA p.S285* ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 285 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TTTTCCAGCTGATCTTCTGGG 0.483 6 26 --- --- --- --- PASS OR1D2 4991 broad.mit.edu 37 17 2995592 2995592 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:2995592C>T uc010vrb.1 - 1 699 c.699G>A c.(697-699)AAG>AAA p.K233K NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 233 Cytoplasmic (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CTTTGTATTTCTTAGAGACTG 0.468 11 74 --- --- --- --- PASS ASGR1 432 broad.mit.edu 37 17 7080327 7080327 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:7080327C>A uc002ges.3 - 4 666 c.256G>T c.(256-258)GCC>TCC p.A86S ASGR1_uc010clx.1_5'UTR NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 86 Potential.|Extracellular (Probable). receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 TTGACCTGGGCCTCCGTGCTC 0.527 3 13 --- --- --- --- PASS ZBTB4 57659 broad.mit.edu 37 17 7365801 7365801 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:7365801C>A uc002ghc.3 - 4 2750 c.2500G>T c.(2500-2502)GGG>TGG p.G834W ZBTB4_uc002ghd.3_Missense_Mutation_p.G834W NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 834 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GCAGTGCTCCCGCCACCTGCC 0.637 4 9 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:7578271T>A uc002gim.2 - 6 772 c.578A>T c.(577-579)CAT>CTT p.H193L TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) TCGGATAAGATGCTGAGGAGG 0.562 111 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) 19 14 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10406144 10406144 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:10406144G>T uc002gmo.2 - 24 3116 c.3022C>A c.(3022-3024)CAG>AAG p.Q1008K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1008 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGGGTCTGCTGGTGGGCCTCC 0.493 6 88 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10428145 10428145 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:10428145G>T uc010coi.2 - 34 5028 c.4900C>A c.(4900-4902)CAG>AAG p.Q1634K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1634K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1634 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.Q1634L(1) ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGGTTCAGCTGGATTTCCATT 0.517 40 16 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11603086 11603086 + Silent SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:11603086C>G uc002gne.2 + 23 4979 c.4911C>G c.(4909-4911)GCC>GCG p.A1637A DNAH9_uc010coo.2_Silent_p.A931A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1637 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACAACATGGCCAAGATGCGAT 0.473 8 35 --- --- --- --- PASS CUEDC1 404093 broad.mit.edu 37 17 55948728 55948728 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:55948728G>T uc002ivd.1 - 6 1506 c.787C>A c.(787-789)CGA>AGA p.R263R CUEDC1_uc002ive.1_Silent_p.R263R NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 263 skin(2) 2 TATTTCAATCGATCTGGAAAA 0.542 9 40 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60788625 60788625 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:60788625C>G uc010ddr.2 - 9 2533 c.2295G>C c.(2293-2295)ATG>ATC p.M765I MARCH10_uc002jag.3_Missense_Mutation_p.M765I|MARCH10_uc010dds.2_Missense_Mutation_p.M803I|MARCH10_uc002jah.2_Missense_Mutation_p.M764I|uc002jaj.1_Intron|uc002jak.2_Intron NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 765 ligase activity|zinc ion binding 0 GGTTGAGCCTCATGAGTTCTG 0.507 16 85 --- --- --- --- PASS LRRC37A3 374819 broad.mit.edu 37 17 62856037 62856037 + Silent SNP T C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:62856037T>C uc002jey.2 - 11 4758 c.4227A>G c.(4225-4227)CCA>CCG p.P1409P LRRC37A3_uc010wqg.1_Silent_p.P527P|LRRC37A3_uc002jex.1_Silent_p.P386P|LRRC37A3_uc010wqf.1_Silent_p.P447P|LRRC37A3_uc010dek.1_Silent_p.P415P NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1409 Extracellular (Potential). integral to membrane 0 TGGTTCCTTCTGGCATGTTAG 0.383 5 88 --- --- --- --- PASS KPNA2 3838 broad.mit.edu 37 17 66033297 66033297 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:66033297T>A uc002jgk.2 + 2 181 c.49T>A c.(49-51)TTC>ATC p.F17I KPNA2_uc002jgl.2_Missense_Mutation_p.F17I NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 17 IBB. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTTCACAGATTCAAGAACAA 0.423 174 71 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67119511 67119511 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:67119511C>G uc002jhw.1 - 10 1480 c.1305G>C c.(1303-1305)TTG>TTC p.L435F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 435 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) ATGATGAATTCAAGAAAAATA 0.358 32 24 --- --- --- --- PASS CD300LB 124599 broad.mit.edu 37 17 72519002 72519002 + Missense_Mutation SNP T A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:72519002T>A uc002jkx.2 - 4 605 c.592A>T c.(592-594)ATC>TTC p.I198F NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 161 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 ATGAGCAAGATGGGCACCTTC 0.577 7 152 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74150388 74150388 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr17:74150388C>T uc002jqz.2 - 17 1855 c.1786G>A c.(1786-1788)GAG>AAG p.E596K RNF157_uc002jra.2_Missense_Mutation_p.E574K|uc002jrb.1_5'Flank NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 596 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GATCCATCCTCTTCCTCTATA 0.423 203 62 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8113592 8113592 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr18:8113592G>A uc002knn.3 + 12 2468 c.1965G>A c.(1963-1965)CTG>CTA p.L655L PTPRM_uc010dkv.2_Silent_p.L655L|PTPRM_uc010wzl.1_Silent_p.L442L NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 655 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTTCTCTGCTGAACTCACAGT 0.418 31 56 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28587056 28587056 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr18:28587056C>A uc002kwj.3 - 12 1860 c.1705G>T c.(1705-1707)GAT>TAT p.D569Y DSC3_uc002kwi.3_Missense_Mutation_p.D569Y NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 569 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) TCATTTACATCTTCAATGTTC 0.333 10 41 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28934414 28934414 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr18:28934414G>T uc002kwp.2 + 15 2467 c.2255G>T c.(2254-2256)GGA>GTA p.G752V DSG1_uc010xbp.1_Missense_Mutation_p.G111V NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 752 Cytoplasmic (Potential). 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) GATACCCTGGGACCTAAATTT 0.468 34 65 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59166620 59166620 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr18:59166620G>C uc010dps.1 + 2 460 c.448G>C c.(448-450)GAG>CAG p.E150Q CDH20_uc002lif.2_Missense_Mutation_p.E144Q NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 150 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GCCCGAGTCAGAGTTCATCAT 0.542 13 24 --- --- --- --- PASS RNF152 220441 broad.mit.edu 37 18 59483298 59483298 + Silent SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr18:59483298C>A uc002lih.1 - 2 811 c.399G>T c.(397-399)GTG>GTT p.V133V NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 133 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) CAGGGATGGTCACCACGGTGA 0.677 13 14 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2129329 2129329 + Missense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:2129329C>G uc002luz.2 - 7 943 c.720G>C c.(718-720)AAG>AAC p.K240N AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.K240N NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 240 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGATGATCTTGATGAGGA 0.597 10 8 --- --- --- --- PASS SPPL2B 56928 broad.mit.edu 37 19 2345327 2345327 + Silent SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:2345327C>T uc002lvs.2 + 14 1433 c.1353C>T c.(1351-1353)ATC>ATT p.I451I SPPL2B_uc002lvr.2_Silent_p.I451I NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 451 Helical; (Potential). Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCACCATCGGTAAGTGCC 0.542 5 12 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7122698 7122698 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:7122698G>T uc002mgd.1 - 19 3565 c.3456C>A c.(3454-3456)GCC>GCA p.A1152A INSR_uc002mge.1_Silent_p.A1140A NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1152 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAACTTCTTGGCGTTCAGGT 0.502 6 51 --- --- --- --- PASS CYP4F11 57834 broad.mit.edu 37 19 16025601 16025601 + Missense_Mutation SNP A T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:16025601A>T uc002nbu.2 - 10 1256 c.1220T>A c.(1219-1221)GTG>GAG p.V407E CYP4F11_uc010eab.1_Missense_Mutation_p.V407E|CYP4F11_uc002nbt.2_Missense_Mutation_p.V407E NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 407 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 GTCTGGGAGCACAAAGTCCTG 0.647 45 15 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309470 24309470 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:24309470C>T uc002nru.2 + 4 802 c.668C>T c.(667-669)TCA>TTA p.S223L ZNF254_uc010xrk.1_Missense_Mutation_p.S138L NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 223 C2H2-type 1; degenerate. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AATTGGTCCTCAACCCTTACT 0.323 44 33 --- --- --- --- PASS RBM42 79171 broad.mit.edu 37 19 36120495 36120495 + Missense_Mutation SNP A G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:36120495A>G uc002oan.2 + 2 278 c.202A>G c.(202-204)ACG>GCG p.T68A RBM42_uc010xsx.1_Missense_Mutation_p.T68A|RBM42_uc010eef.2_Missense_Mutation_p.T68A|RBM42_uc002oao.2_Missense_Mutation_p.T68A|RBM42_uc002oap.2_Missense_Mutation_p.T68A|RBM42_uc002oaq.2_Missense_Mutation_p.T68A|RBM42_uc010eeg.2_Missense_Mutation_p.T68A NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 68 cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CACTGTCCCCACGGTCCCCAC 0.592 15 54 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36333142 36333142 + Silent SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:36333142C>G uc002oby.2 - 19 2547 c.2547G>C c.(2545-2547)GTG>GTC p.V849V NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 849 Ig-like C2-type 8.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCTGCAGCCACCTTAGTTA 0.602 3 10 --- --- --- --- PASS TBCB 1155 broad.mit.edu 37 19 36611661 36611661 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:36611661G>C uc002odg.1 + 3 883 c.308G>C c.(307-309)CGG>CCG p.R103P TBCB_uc002odh.1_Missense_Mutation_p.R84P NM_001281 NP_001272 Q99426 TBCB_HUMAN cytoskeleton associated protein 1 103 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACGTGTCCCGGGTGGAGAAG 0.642 21 18 --- --- --- --- PASS SPRED3 399473 broad.mit.edu 37 19 38882630 38882630 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:38882630G>A uc002oim.2 + 2 226 c.222G>A c.(220-222)AAG>AAA p.K74K SPRED3_uc002oil.1_Silent_p.K74K NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 74 WH1. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTTACAACAAGGTGAATCCCA 0.542 15 98 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42863021 42863021 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:42863021G>T uc002otl.3 + 29 5692 c.5057G>T c.(5056-5058)CGG>CTG p.R1686L MEGF8_uc002otm.3_Missense_Mutation_p.R1294L NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1753 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TGGGGGTTCCGGGAAGTCAGG 0.577 8 7 --- --- --- --- PASS CEACAM8 1088 broad.mit.edu 37 19 43092953 43092953 + Missense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:43092953C>A uc002oud.2 - 4 1043 c.941G>T c.(940-942)AGG>ATG p.R314M uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 314 Ig-like C2-type 2. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) TGTGATCATCCTGACTGTGGT 0.478 6 91 --- --- --- --- PASS TEX101 83639 broad.mit.edu 37 19 43910665 43910665 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:43910665G>A uc002owk.2 + 4 570 c.9G>A c.(7-9)GCG>GCA p.A3A NM_031451 NP_113639 Q9BY14 TX101_HUMAN testis expressed 101 isoform 1 Error:Variant_position_missing_in_Q9BY14_after_alignment anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) gcatgggggcgaggcaggtac 0.000 8 11 --- --- --- --- PASS TMEM160 54958 broad.mit.edu 37 19 47549873 47549873 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:47549873G>T uc002pfz.2 - 2 289 c.279C>A c.(277-279)GAC>GAA p.D93E NM_017854 NP_060324 Q9NX00 TM160_HUMAN transmembrane protein 160 93 integral to membrane 0 all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242) CCCGACCCATGTCACTCTGCA 0.617 10 78 --- --- --- --- PASS PPP1R15A 23645 broad.mit.edu 37 19 49377887 49377887 + Nonsense_Mutation SNP C G G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:49377887C>G uc002pky.3 + 2 1666 c.1397C>G c.(1396-1398)TCA>TGA p.S466* NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 466 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAAGCTGAGTCAGACCCACAT 0.567 9 62 --- --- --- --- PASS HRC 3270 broad.mit.edu 37 19 49654775 49654775 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:49654775G>C uc002pmv.2 - 5 2249 c.2062C>G c.(2062-2064)CAG>GAG p.Q688E NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 688 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CACACTTACTGATAAAGGGAC 0.398 8 34 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51132558 51132558 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:51132558C>T uc002pst.2 - 4 1908 c.1274G>A c.(1273-1275)GGC>GAC p.G425D SYT3_uc002psv.2_Missense_Mutation_p.G425D|SYT3_uc010ycd.1_Missense_Mutation_p.G425D NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 425 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GACCGAGCCGCCCTCCACGAT 0.677 5 3 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286681 57286681 + Missense_Mutation SNP G A A rs138884282 by1000genomes TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr19:57286681G>A uc002qnr.2 - 11 1341 c.959C>T c.(958-960)TCA>TTA p.S320L uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.S116L|ZIM2_uc010ygr.1_Missense_Mutation_p.S116L|ZIM2_uc002qnq.2_Missense_Mutation_p.S320L|ZIM2_uc010etp.2_Missense_Mutation_p.S320L|ZIM2_uc010ygs.1_Missense_Mutation_p.S320L NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TTGGGATGCTGACTGGGGACT 0.453 9 48 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7915149 7915149 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr20:7915149C>T uc002wmw.1 - 2 295 c.271G>A c.(271-273)GAG>AAG p.E91K HAO1_uc010gbu.2_Missense_Mutation_p.E91K NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 91 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GTGGCAAGCTCGCCGTCCACA 0.522 23 110 --- --- --- --- PASS TM9SF4 9777 broad.mit.edu 37 20 30745599 30745599 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr20:30745599G>A uc002wxj.2 + 14 1567 c.1332G>A c.(1330-1332)GTG>GTA p.V444V TM9SF4_uc010zts.1_Silent_p.V351V|TM9SF4_uc002wxk.2_Silent_p.V427V|TM9SF4_uc010gdz.2_Silent_p.V323V NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 444 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTCTACAGGTGCCCTTTCCCA 0.627 54 56 --- --- --- --- PASS C20orf4 25980 broad.mit.edu 37 20 34828318 34828318 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr20:34828318G>C uc002xfc.1 + 2 621 c.528G>C c.(526-528)CAG>CAC p.Q176H C20orf4_uc002xfd.1_Missense_Mutation_p.Q176H|C20orf4_uc002xfe.1_Missense_Mutation_p.Q176H NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 176 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) GCGTGGGGCAGAATCTACCCC 0.582 62 61 --- --- --- --- PASS CDH22 64405 broad.mit.edu 37 20 44815288 44815288 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr20:44815288G>C uc002xrm.2 - 9 2003 c.1602C>G c.(1600-1602)TTC>TTG p.F534L CDH22_uc010ghk.1_Missense_Mutation_p.F534L NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 534 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGCGGAAATAGAAGCGGTGCC 0.587 7 46 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52645430 52645430 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr20:52645430G>T uc002xws.2 - 4 562 c.224C>A c.(223-225)GCC>GAC p.A75D BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A75D|BCAS1_uc010gil.1_Missense_Mutation_p.A75D|BCAS1_uc010zzc.1_5'UTR NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 75 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTTTCCGTTGGCATCCGCAAC 0.493 29 19 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22910240 22910240 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr21:22910240G>T uc002yld.1 + 18 2725 c.2476G>T c.(2476-2478)GAC>TAC p.D826Y NCAM2_uc011acb.1_Missense_Mutation_p.D684Y NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 826 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGTTTCTAACGACATCATTCA 0.343 30 21 --- --- --- --- PASS USP16 10600 broad.mit.edu 37 21 30402983 30402983 + Silent SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr21:30402983G>T uc002ymy.2 + 3 331 c.129G>T c.(127-129)GTG>GTT p.V43V USP16_uc002ymx.2_Silent_p.V43V|USP16_uc002ymw.2_Silent_p.V43V|USP16_uc011acm.1_Silent_p.V29V|USP16_uc011acn.1_Intron NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 43 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 TAGTGAATGTGGAATGGAATA 0.333 6 53 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47985788 47985788 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr21:47985788G>A uc002zjo.2 + 36 4510 c.4327G>A c.(4327-4329)GAT>AAT p.D1443N DIP2A_uc011afz.1_Missense_Mutation_p.D1439N|DIP2A_uc002zjs.2_Missense_Mutation_p.D123N|DIP2A_uc002zjt.2_RNA NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1443 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AGAGCTCACTGATGCCAGTGG 0.602 35 27 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19865933 19865933 + Nonsense_Mutation SNP C A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:19865933C>A uc011ahc.1 - 15 1336 c.1303G>T c.(1303-1305)GAG>TAG p.E435* TXNRD2_uc002zql.1_Nonsense_Mutation_p.E189*|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Nonsense_Mutation_p.E434*|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Nonsense_Mutation_p.E85* NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 435 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) ACCGTGAACTCCAGTGGTTTA 0.567 21 146 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21119167 21119167 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:21119167G>C uc002zsz.3 - 22 2703 c.2472C>G c.(2470-2472)ATC>ATG p.I824M NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 824 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCAGCTTGTTGATGAGTGCGG 0.582 5 36 --- --- --- --- PASS KREMEN1 83999 broad.mit.edu 37 22 29533453 29533453 + Missense_Mutation SNP C T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:29533453C>T uc011akm.1 + 6 768 c.755C>T c.(754-756)TCC>TTC p.S252F KREMEN1_uc003ael.2_Missense_Mutation_p.S252F|KREMEN1_uc011akn.1_Missense_Mutation_p.S135F NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 250 Extracellular (Potential).|CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 CCGGGGGCCTCCCACATCCAC 0.597 11 62 --- --- --- --- PASS SMCR7L 54471 broad.mit.edu 37 22 39908032 39908032 + Splice_Site SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:39908032G>A uc003axx.2 + 4 820 c.322_splice c.e4+1 p.D108_splice SMCR7L_uc003axw.2_Splice_Site_p.D108_splice|SMCR7L_uc010gxz.1_Splice_Site|SMCR7L_uc003axy.2_Splice_Site NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) TTCGACACAGGTGAGAAGGGC 0.453 9 39 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42099442 42099442 + Silent SNP C T T rs147144334 by1000genomes TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:42099442C>T uc003baz.1 + 2 307 c.282C>T c.(280-282)TTC>TTT p.F94F MEI1_uc003bay.3_Silent_p.F94F|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 94 binding central_nervous_system(1)|skin(1) 2 GCATCCACTTCATAAGTGTGC 0.428 6 15 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63568544 63568544 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chrX:63568544G>T uc004dvs.2 - 6 796 c.728C>A c.(727-729)CCA>CAA p.P243Q MTMR8_uc011mou.1_Missense_Mutation_p.P243Q|MTMR8_uc004dvt.1_Missense_Mutation_p.P243Q NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 243 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 AGATACCTTTGGTCTTGTGTC 0.403 4 24 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70678145 70678145 + Missense_Mutation SNP G T T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chrX:70678145G>T uc004dzu.3 + 35 5041 c.4990G>T c.(4990-4992)GTA>TTA p.V1664L BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V1685L|TAF1_uc004dzv.3_Missense_Mutation_p.V838L|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.V89L|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_5'Flank NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1664 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGATGCCTCTGTATTTCAAGA 0.408 48 22 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99663159 99663159 + Missense_Mutation SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chrX:99663159G>A uc010nmz.2 - 1 2113 c.437C>T c.(436-438)ACG>ATG p.T146M PCDH19_uc004efw.3_Missense_Mutation_p.T146M|PCDH19_uc004efx.3_Missense_Mutation_p.T146M NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 146 Cadherin 2.|Extracellular (Potential). T -> R (in EIEE9). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CGGGATGCGCGTGCCAGGGCT 0.597 14 7 --- --- --- --- PASS XIAP 331 broad.mit.edu 37 X 123020331 123020331 + Silent SNP G A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chrX:123020331G>A uc010nqu.2 + 2 945 c.819G>A c.(817-819)GGG>GGA p.G273G XIAP_uc004etx.2_Silent_p.G273G|XIAP_uc010nqv.2_Intron NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 273 BIR 3. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 TTACTTTTGGGACATGGATAT 0.363 X-linked_Lymphoproliferative_syndrome 27 13 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 4925417 4925417 + Missense_Mutation SNP G C C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chrY:4925417G>C uc004fqo.2 + 1 1287 c.553G>C c.(553-555)GCT>CCT p.A185P PCDH11Y_uc010nwg.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fql.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqm.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqn.1_Missense_Mutation_p.A185P NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 185 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 AGAGAACTCGGCTATAAACTC 0.368 11 9 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26697491 26697491 + Frame_Shift_Del DEL C - - TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr2:26697491delC uc002rhk.2 - 26 3305 c.3178delG c.(3178-3180)GCAfs p.A1060fs OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Frame_Shift_Del_p.A313fs|OTOF_uc002rhi.2_Frame_Shift_Del_p.A370fs|OTOF_uc002rhj.2_Frame_Shift_Del_p.A313fs NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1060 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTCGTCTGCCATCTTCACC 0.587 10 23 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783285 140783285 + Frame_Shift_Del DEL C - - rs77227638 byFrequency TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr5:140783285delC uc003lkh.1 + 1 766 c.766delC c.(766-768)CCCfs p.P256fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Frame_Shift_Del_p.P256fs NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 256 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGAACGTGCCCCCAGGCAC 0.473 30 22 --- --- --- --- GGCT 79017 broad.mit.edu 37 7 30544197 30544198 + Frame_Shift_Del DEL CA - - TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr7:30544197_30544198delCA uc003tba.2 - 1 255_256 c.128_129delTG c.(127-129)GTGfs p.V43fs GGCT_uc003tbb.2_Frame_Shift_Del_p.V43fs|GGCT_uc003tbc.2_RNA NM_024051 NP_076956 O75223 GGCT_HUMAN gamma-glutamyl cyclotransferase 43 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity 0 GCAGGCGGGCCACACAGAAGAA 0.668 26 14 --- --- --- --- C12orf41 54934 broad.mit.edu 37 12 49048747 49048748 + Frame_Shift_Ins INS - A A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr12:49048747_49048748insA uc001rrx.2 - 9 1398_1399 c.1323_1324insT c.(1321-1326)ATTGCTfs p.I441fs C12orf41_uc001rrw.2_Frame_Shift_Ins_p.I212fs|C12orf41_uc001rrz.2_Frame_Shift_Ins_p.I624fs|C12orf41_uc001rry.2_RNA|C12orf41_uc001rru.2_Frame_Shift_Ins_p.I72fs|C12orf41_uc001rrv.2_Frame_Shift_Ins_p.I125fs|SNORA34_uc001rsa.1_5'Flank|MIR1291_hsa-mir-1291|MI0006353_5'Flank NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 441_442 ovary(2) 2 GGGTCTTCAGCAATTTCTTTGA 0.465 10 6 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 820927 820927 + Frame_Shift_Del DEL G - - TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:820927delG uc002cjz.1 - 13 2458 c.2458delC c.(2458-2460)CAGfs p.Q820fs NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 469 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 TTCCGGCTCTGGGGGCAGGAG 0.692 4 2 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A - - TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr16:30007665delA uc002dvg.1 + 1 135 c.34delA c.(34-36)AAAfs p.K12fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Frame_Shift_Del_p.K12fs|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Frame_Shift_Del_p.K12fs|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank NM_173618 NP_775889 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 12 Potential. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex skin(1) 1 AGTGGACTACAAAAAAAAATA 0.632 4 2 --- --- --- --- DGCR6 8214 broad.mit.edu 37 22 18897772 18897773 + Frame_Shift_Ins INS - GC GC TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx a97333f4-d289-493f-8dff-88e52719fa86 5e11471c-1e1b-45dc-8b95-1d20c3f087b7 g.chr22:18897772_18897773insGC uc002zoh.3 + 3 511_512 c.359_360insGC c.(358-360)CAGfs p.Q120fs DGCR6_uc002zog.2_RNA|DGCR6_uc002zoi.3_RNA NM_005675 NP_005666 Q14129 DGCR6_HUMAN DiGeorge syndrome critical region protein 6 120 Potential. cell adhesion|organ morphogenesis nucleus|proteinaceous extracellular matrix upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCGGCTCAGCAGCGAGAACTAG 0.673 3 5 --- --- --- ---