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 KIAA1751 85452 broad.mit.edu 37 1 1920058 1920058 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:1920058C>A uc001aim.1 - 4 345 c.189G>T c.(187-189)TTG>TTT p.L63F KIAA1751_uc009vkz.1_Missense_Mutation_p.L63F|KIAA1751_uc001ain.1_Missense_Mutation_p.L63F NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 63 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TTTTCTTCTTCAATTTATCAG 0.498 96 108 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9794028 9794028 + Splice_Site SNP A G G rs111547640 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:9794028A>G uc001aqh.2 - 15 3040 c.2281_splice c.e15+1 p.G761_splice CLSTN1_uc001aqi.2_Splice_Site_p.G751_splice|CLSTN1_uc010oag.1_Splice_Site_p.G742_splice|CLSTN1_uc001aqf.2_5'Flank NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGCTCCCCTTACCTGTGAAGG 0.597 8 155 --- --- --- --- PASS CASP9 842 broad.mit.edu 37 1 15821807 15821807 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:15821807T>C uc001awn.2 - 7 1104 c.1009A>G c.(1009-1011)ACA>GCA p.T337A CASP9_uc001awm.1_Missense_Mutation_p.T337A|CASP9_uc001awo.2_Missense_Mutation_p.T187A|CASP9_uc001awp.2_Missense_Mutation_p.T181A|CASP9_uc009voi.2_Missense_Mutation_p.T181A|CASP9_uc010obm.1_Missense_Mutation_p.T254A|CASP9_uc001awq.2_Missense_Mutation_p.T254A NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 337 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TCACTGGGTGTGGGCAAACTA 0.582 15 23 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16902816 16902816 + Nonsense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:16902816G>A uc009vos.1 - 19 2953 c.2065C>T c.(2065-2067)CAG>TAG p.Q689* NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Nonsense_Mutation_p.Q147*|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q418* NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 689 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCAGCCAGCTGTTCTTGGAGG 0.582 34 883 --- --- --- --- PASS UBXN10 127733 broad.mit.edu 37 1 20517189 20517189 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:20517189G>T uc001bdb.2 + 2 219 c.135G>T c.(133-135)CGG>CGT p.R45R NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN UBX domain protein 10 45 ovary(1) 1 CCAAGGGACGGACAAGACCGA 0.532 73 77 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22915561 22915561 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:22915561G>T uc001bfx.1 + 5 1302 c.1177G>T c.(1177-1179)GTG>TTG p.V393L EPHA8_uc001bfw.2_Missense_Mutation_p.V393L NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 393 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GACAAGCCTGGTGCAGGCCAG 0.672 8 29 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34238179 34238179 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:34238179C>G uc001bxn.1 - 13 1746 c.1717G>C c.(1717-1719)GGC>CGC p.G573R CSMD2_uc001bxm.1_Missense_Mutation_p.G613R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 573 Sushi 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACACGCAGCCTGGCTTCTTA 0.587 38 128 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36941098 36941098 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:36941098C>T uc001caw.1 - 4 419 c.241G>A c.(241-243)GGG>AGG p.G81R CSF3R_uc001cav.1_Missense_Mutation_p.G81R|CSF3R_uc001cax.1_Missense_Mutation_p.G81R|CSF3R_uc001cay.1_Missense_Mutation_p.G81R NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 81 Ig-like C2-type.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TCCTGGGTCCCATCAGACAGA 0.602 84 70 --- --- --- --- PASS AKIRIN1 79647 broad.mit.edu 37 1 39457232 39457232 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:39457232G>T uc001ccw.2 + 1 317 c.180G>T c.(178-180)CAG>CAT p.Q60H AKIRIN1_uc010oip.1_Missense_Mutation_p.Q60H|AKIRIN1_uc010oiq.1_Missense_Mutation_p.Q60H NM_024595 NP_078871 Q9H9L7 AKIR1_HUMAN akirin 1 isoform 1 60 Pro-rich. nucleus 0 GTCTGCAGCAGCCCGCCCCGC 0.736 3 3 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39696876 39696876 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:39696876G>C uc010ois.1 + 4 448 c.243G>C c.(241-243)AAG>AAC p.K81N MACF1_uc001cda.1_5'UTR|MACF1_uc010oit.1_Missense_Mutation_p.K44N NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 81 Actin-binding.|CH 1. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGGTTCAGAAGAAAACGTTCA 0.512 90 472 --- --- --- --- PASS NT5C1A 84618 broad.mit.edu 37 1 40131788 40131788 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:40131788G>T uc001cdq.1 - 2 256 c.256C>A c.(256-258)CAT>AAT p.H86N NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 86 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCGTTCTCATGTTCCAGCTGG 0.478 66 123 --- --- --- --- PASS ZNF642 339559 broad.mit.edu 37 1 40954798 40954798 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:40954798C>G uc001cfo.2 + 4 552 c.258C>G c.(256-258)ACC>ACG p.T86T ZNF642_uc009vwb.2_Silent_p.T86T|ZNF642_uc010ojk.1_Silent_p.T86T NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 86 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TTGACTTCACCCAGGAAGAGT 0.468 18 127 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43778111 43778111 + Missense_Mutation SNP G T T rs148519949 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:43778111G>T uc001ciu.2 + 12 1845 c.1766G>T c.(1765-1767)CGG>CTG p.R589L TIE1_uc010okd.1_Missense_Mutation_p.R589L|TIE1_uc010oke.1_Missense_Mutation_p.R544L|TIE1_uc009vwq.2_Missense_Mutation_p.R545L|TIE1_uc010okf.1_Missense_Mutation_p.R234L|TIE1_uc010okg.1_Missense_Mutation_p.R234L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 589 Fibronectin type-III 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACGGGACACGGGGGCAGGAG 0.697 44 80 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53569154 53569154 + Silent SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:53569154G>C uc001cuy.2 - 5 729 c.561C>G c.(559-561)GTC>GTG p.V187V NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 187 Extracellular (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TCTCCTCCTGGACCCCGTAGA 0.637 19 43 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57351626 57351626 + Silent SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:57351626A>T uc001cyo.2 + 7 1014 c.882A>T c.(880-882)ACA>ACT p.T294T NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 294 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GAATCTTCACAAAGGTGCAGA 0.363 57 73 --- --- --- --- PASS INSL5 10022 broad.mit.edu 37 1 67266898 67266898 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:67266898C>A uc001dcw.2 - 1 42 c.7G>T c.(7-9)GGC>TGC p.G3C NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 3 extracellular region hormone activity 0 AAAATGGAGCCCTTCATTTTG 0.403 16 31 --- --- --- --- PASS WDR78 79819 broad.mit.edu 37 1 67337155 67337155 + Nonsense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:67337155T>A uc001dcx.2 - 6 894 c.838A>T c.(838-840)AGA>TGA p.R280* WDR78_uc001dcy.2_Nonsense_Mutation_p.R280*|WDR78_uc001dcz.2_Nonsense_Mutation_p.R280*|WDR78_uc009waw.2_Nonsense_Mutation_p.R26*|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 280 ovary(2) 2 TTGCCTAATCTGTTTCTACAA 0.313 34 52 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038644 75038644 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:75038644T>C uc001dgg.2 - 14 2969 c.2750A>G c.(2749-2751)CAT>CGT p.H917R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 917 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGCTACTTCATGAAGATGCTC 0.542 25 464 --- --- --- --- PASS PALMD 54873 broad.mit.edu 37 1 100155158 100155158 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:100155158G>C uc001dsg.2 + 7 1785 c.1342G>C c.(1342-1344)GAT>CAT p.D448H PALMD_uc001dsf.2_Missense_Mutation_p.D448H NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 448 regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GGTTGTGATTGATGATGAGGA 0.483 6 97 --- --- --- --- PASS MIR197 406974 broad.mit.edu 37 1 110141522 110141522 + RNA SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:110141522C>T hsa-mir-197|MI0000239 + c.8C>T uc010ovq.1_RNA 0 GGGGGCTGTGCCGGGTAGAGA 0.567 5 242 --- --- --- --- PASS PROK1 84432 broad.mit.edu 37 1 110998902 110998902 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:110998902A>T uc001dzs.2 + 3 298 c.247A>T c.(247-249)AAC>TAC p.N83Y NM_032414 NP_115790 P58294 PROK1_HUMAN prokineticin 1 precursor 83 angiogenesis|positive regulation of cell division extracellular region growth factor activity 0 all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135) TTGCTTGCCCAACCTGCTGTG 0.552 102 98 --- --- --- --- PASS KCNA2 3737 broad.mit.edu 37 1 111146539 111146539 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:111146539G>A uc001dzu.2 - 2 1362 c.866C>T c.(865-867)TCA>TTA p.S289L KCNA2_uc009wfv.1_Missense_Mutation_p.S289L|KCNA2_uc009wfw.2_Missense_Mutation_p.S289L NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 289 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GATGGCCAGTGACATGGCCTG 0.517 68 179 --- --- --- --- PASS S100A1 6271 broad.mit.edu 37 1 153604243 153604243 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:153604243G>A uc001fck.1 + 3 324 c.211G>A c.(211-213)GAC>AAC p.D71N C1orf77_uc001fcm.1_5'Flank|C1orf77_uc001fcn.1_5'Flank|S100A13_uc001fcj.2_Intron|S100A1_uc001fcl.1_RNA|C1orf77_uc009woi.1_5'Flank|C1orf77_uc009woj.1_5'Flank NM_006271 NP_006262 P23297 S10A1_HUMAN S100 calcium binding protein A1 71 2; high affinity.|EF-hand 2. intracellular signal transduction|regulation of heart contraction nucleus|protein complex|sarcoplasmic reticulum ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Olopatadine(DB00768) CGGGGAGGTGGACTTCCAGGA 0.562 123 662 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156622664 156622664 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:156622664T>A uc001fpp.2 + 8 2258 c.1922T>A c.(1921-1923)GTG>GAG p.V641E BCAN_uc001fpo.2_Missense_Mutation_p.V641E NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 641 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGAGGTGGAGTGGCCGTGGTC 0.607 48 117 --- --- --- --- PASS CADM3 57863 broad.mit.edu 37 1 159169596 159169596 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:159169596C>T uc001ftl.2 + 8 1150 c.1008C>T c.(1006-1008)ATC>ATT p.I336I CADM3_uc001ftk.2_Silent_p.I370I|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 336 Helical; (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TCGGTGGGATCGTGGCTTTCA 0.557 32 99 --- --- --- --- PASS COPA 1314 broad.mit.edu 37 1 160281763 160281763 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:160281763G>T uc009wti.2 - 11 1365 c.971C>A c.(970-972)CCA>CAA p.P324Q COPA_uc001fvv.3_Missense_Mutation_p.P324Q|COPA_uc009wtj.1_Missense_Mutation_p.P270Q NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 324 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCATAGGCTGGCCGTTCCCG 0.468 35 50 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167088577 167088577 + Missense_Mutation SNP G A A rs150600224 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:167088577G>A uc001geb.1 + 4 529 c.529G>A c.(529-531)GAA>AAA p.E177K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 177 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CACTGGCCCCGAATTCTACAC 0.562 47 69 --- --- --- --- PASS FMO2 2327 broad.mit.edu 37 1 171168503 171168503 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:171168503G>A uc001ghk.1 + 5 620 c.503G>A c.(502-504)GGC>GAC p.G168D FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 168 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to 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) AGGTTCAAAGGCCAATATTTC 0.448 10 132 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173526509 173526509 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:173526509G>T uc001giz.2 - 10 1608 c.1185C>A c.(1183-1185)CTC>CTA p.L395L SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 395 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TTCGTTCAGCGAGATTATAAA 0.348 75 127 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173916691 173916691 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:173916691C>A uc001gju.3 - 14 2640 c.2553G>T c.(2551-2553)CAG>CAT p.Q851H RC3H1_uc010pms.1_Missense_Mutation_p.Q851H|RC3H1_uc001gjv.2_Missense_Mutation_p.Q851H|RC3H1_uc010pmt.1_Missense_Mutation_p.Q851H NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 851 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GATCTAATCGCTGGTCCCTCA 0.438 37 121 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179562999 179562999 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:179562999G>C uc001gnf.1 + 3 887 c.637G>C c.(637-639)GCA>CCA p.A213P TDRD5_uc010pnp.1_Missense_Mutation_p.A213P NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 213 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGGATGTCCAGCAGGTACGCA 0.413 57 71 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181764045 181764045 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:181764045C>A uc001gow.2 + 45 6109 c.5944C>A c.(5944-5946)CGG>AGG p.R1982R CACNA1E_uc009wxs.2_Silent_p.R1870R|CACNA1E_uc009wxt.2_Silent_p.R1251R NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2025 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 TTCCACTATTCGGGATAAGCG 0.473 35 79 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186275939 186275939 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:186275939C>A uc001gru.3 + 7 1139 c.1088C>A c.(1087-1089)CCC>CAC p.P363H PRG4_uc001grt.3_Missense_Mutation_p.P322H|PRG4_uc009wyl.2_Missense_Mutation_p.P270H|PRG4_uc009wym.2_Missense_Mutation_p.P229H|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 363 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|2; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TCTACCACACCCAAAGAGCCC 0.597 98 284 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190423824 190423824 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:190423824C>T uc001gse.1 - 2 429 c.197G>A c.(196-198)AGA>AAA p.R66K FAM5C_uc010pot.1_Missense_Mutation_p.E28K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 66 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CTGCCGGCTTCTGTCCACAAA 0.458 5 51 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203194875 203194875 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:203194875C>T uc001gzn.2 - 3 275 c.179G>A c.(178-180)GGC>GAC p.G60D FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G70D NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 60 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 GTTGGTCATGCCAGCGAAGGC 0.572 4 181 --- --- --- --- PASS ATP2B4 493 broad.mit.edu 37 1 203696535 203696535 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:203696535A>G uc001gzw.2 + 20 4029 c.3145A>G c.(3145-3147)ATA>GTA p.I1049V ATP2B4_uc001gzv.2_Missense_Mutation_p.I1049V|ATP2B4_uc009xaq.2_Missense_Mutation_p.I1049V|ATP2B4_uc001gzx.2_Missense_Mutation_p.I80V|ATP2B4_uc009xar.2_Missense_Mutation_p.I44V|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1049 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CATCTCCGCAATACCTACCCG 0.542 76 81 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216040426 216040426 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:216040426C>G uc001hku.1 - 44 9155 c.8768G>C c.(8767-8769)GGT>GCT p.G2923A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2923 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCTGGAAGACCAGCTAACGT 0.458 HNSCC(13;0.011) 29 79 --- --- --- --- PASS DNAH14 127602 broad.mit.edu 37 1 225147866 225147866 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:225147866G>A uc001how.2 + 4 444 c.229G>A c.(229-231)GAA>AAA p.E77K DNAH14_uc001hou.3_Missense_Mutation_p.E77K|DNAH14_uc001hot.3_Missense_Mutation_p.E77K|DNAH14_uc001hov.3_Missense_Mutation_p.E77K NM_001373 NP_001364 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy polypeptide 14 isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 TTACCTTAGAGAAAGTATAAT 0.348 5 33 --- --- --- --- PASS WNT3A 89780 broad.mit.edu 37 1 228210498 228210498 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:228210498G>A uc001hrq.1 + 2 280 c.202G>A c.(202-204)GAG>AAG p.E68K WNT3A_uc001hrp.1_Missense_Mutation_p.E68K NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 68 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CAGCGTGGCCGAGGGCATCAA 0.667 19 123 --- --- --- --- PASS C1orf96 126731 broad.mit.edu 37 1 229462485 229462485 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:229462485C>A uc001htl.3 - 3 714 c.636G>T c.(634-636)GAG>GAT p.E212D C1orf96_uc009xfc.2_RNA NM_145257 NP_660300 Q6IQ19 CA096_HUMAN hypothetical protein LOC126731 212 centrosome 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) CAGAGCGCACCTCGTGCACAG 0.562 20 232 --- --- --- --- PASS AGT 183 broad.mit.edu 37 1 230846075 230846075 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:230846075C>A uc001hty.3 - 2 1030 c.522G>T c.(520-522)CGG>CGT p.R174R AGT_uc009xfe.2_Silent_p.R174R|AGT_uc009xff.2_Silent_p.R146R NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 174 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) GCGCATCCAGCCGGGAGGTGC 0.632 37 98 --- --- --- --- PASS C1orf31 388753 broad.mit.edu 37 1 234509501 234509501 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:234509501G>T uc001hwc.2 + 1 73 c.37G>T c.(37-39)GGG>TGG p.G13W C1orf31_uc001hwb.2_Intron NM_001012985 NP_001013003 Q5JTJ3 CA031_HUMAN hypothetical protein LOC388753 13 mitochondrion cytochrome-c oxidase activity 0 Ovarian(103;0.0339) all_cancers(173;0.241)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CCCGAGCCGCGGGTTCCTCTT 0.622 51 85 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243471409 243471409 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:243471409G>A uc001hzw.2 + 8 1015 c.859G>A c.(859-861)GCT>ACT p.A287T SDCCAG8_uc010pyk.1_Missense_Mutation_p.A142T|SDCCAG8_uc010pyl.1_Missense_Mutation_p.A99T|SDCCAG8_uc001hzx.2_Missense_Mutation_p.A99T NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 287 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTTGAAATGTGCTCAGCATGA 0.403 35 291 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419893 247419893 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:247419893C>A uc010pyu.1 + 2 520 c.520C>A c.(520-522)CTC>ATC p.L174I NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 174 Helical; Name=5; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CTCATGGGTCCTCAACATGTT 0.488 112 323 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247654487 247654487 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:247654487C>A uc001icz.1 + 1 58 c.58C>A c.(58-60)CGG>AGG p.R20R NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCTTCTGATCGGCCTGGACT 0.463 40 111 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487077 248487077 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:248487077T>A uc010pzk.1 - 1 794 c.794A>T c.(793-795)CAT>CTT p.H265L NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGAGAATGATGAGATGTGGG 0.478 101 120 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1497666 1497666 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:1497666A>G uc002qww.2 + 11 1952 c.1861A>G c.(1861-1863)AAG>GAG p.K621E TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.K564E|TPO_uc002qwr.2_Missense_Mutation_p.K621E|TPO_uc002qwx.2_Missense_Mutation_p.K564E|TPO_uc010yio.1_Missense_Mutation_p.K448E|TPO_uc010yip.1_Missense_Mutation_p.K621E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 621 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGTGGCCGACAAGATCCTGGA 0.607 76 24 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15746377 15746377 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:15746377C>T uc002rce.2 + 12 1094 c.806C>T c.(805-807)TCA>TTA p.S269L DDX1_uc010yjq.1_Missense_Mutation_p.S177L NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 269 Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) ATTGTCAAATCACAGCACTCA 0.398 49 244 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21235356 21235356 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:21235356C>T uc002red.2 - 26 4512 c.4384G>A c.(4384-4386)GGA>AGA p.G1462R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1462 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) ATCTGTGGTCCCCAGGAACTA 0.378 23 224 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24435597 24435597 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:24435597C>A uc002rfe.2 - 33 4269 c.4011G>T c.(4009-4011)CGG>CGT p.R1337R ITSN2_uc002rff.2_Silent_p.R1310R NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1337 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCTTTACACCGCGGGTCAG 0.542 86 282 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24435600 24435600 + Silent SNP C A A rs146758206 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:24435600C>A uc002rfe.2 - 33 4266 c.4008G>T c.(4006-4008)CCG>CCT p.P1336P ITSN2_uc002rff.2_Silent_p.P1309P NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1336 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTACACCGCGGGTCAGATG 0.542 80 264 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25523041 25523041 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:25523041C>A uc002rgc.2 - 3 401 c.144G>T c.(142-144)GTG>GTT p.V48V DNMT3A_uc002rgd.2_Silent_p.V48V|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.V45V|DNMT3A_uc002rgf.2_Silent_p.V48V NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 48 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGCCGCCCCACCTTCCGTG 0.662 Mis|F|N|S AML 51 139 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26684724 26684724 + Nonsense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:26684724C>T uc002rhk.2 - 43 5500 c.5373G>A c.(5371-5373)TGG>TGA p.W1791* OTOF_uc010yla.1_Nonsense_Mutation_p.W521*|OTOF_uc002rhh.2_Nonsense_Mutation_p.W1024*|OTOF_uc002rhi.2_Nonsense_Mutation_p.W1101*|OTOF_uc002rhj.2_Nonsense_Mutation_p.W1024* NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1791 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) ACAGGTAGCGCCAGTTGAAGT 0.597 17 478 --- --- --- --- PASS SPAST 6683 broad.mit.edu 37 2 32289035 32289035 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:32289035G>A uc002roc.2 + 1 356 c.135G>A c.(133-135)CCG>CCA p.P45P SPAST_uc002rod.2_Silent_p.P45P NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 45 Required for interaction with RTN1.|Required for nuclear localization.|Required for midbody localization.|Required for interaction with ATL1. P -> Q (rare polymorphism which modifies the phenotype of SPG4 disease). cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ccgAGTCGCCGCATAAGCGGA 0.517 4 93 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873862 48873862 + Missense_Mutation SNP C A A rs142381844 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:48873862C>A uc010yol.1 + 5 2677 c.2630C>A c.(2629-2631)TCT>TAT p.S877Y STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S924Y|GTF2A1L_uc002rws.1_Missense_Mutation_p.S220Y|GTF2A1L_uc010yom.1_Missense_Mutation_p.S186Y|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S220Y NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 877 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATACTTGTATCTCCTGGAAAT 0.428 20 195 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61417463 61417463 + Silent SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:61417463T>A uc002sbe.2 - 78 9838 c.9816A>T c.(9814-9816)CTA>CTT p.L3272L USP34_uc002sbd.2_Silent_p.L74L NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3272 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) AATCAGACTGTAGGTTCTGAT 0.398 325 158 --- --- --- --- PASS ANTXR1 84168 broad.mit.edu 37 2 69350194 69350194 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:69350194C>T uc002sfg.2 + 11 1204 c.848C>T c.(847-849)GCG>GTG p.A283V ANTXR1_uc002sfe.2_Missense_Mutation_p.A283V|ANTXR1_uc002sff.2_Missense_Mutation_p.A283V NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 283 Extracellular (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 CTGTGTCCAGCGCCTATCTTA 0.433 Familial_Infantile_Hemangioma 27 436 --- --- --- --- PASS TIA1 7072 broad.mit.edu 37 2 70441526 70441526 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:70441526G>A uc002sgj.3 - 12 1206 c.989C>T c.(988-990)CCT>CTT p.P330L TIA1_uc002sgk.3_Missense_Mutation_p.P319L|TIA1_uc002sgl.3_RNA NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 330 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TCCATATGCAGGAACTTGCCA 0.408 48 131 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73717751 73717751 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:73717751G>C uc002sje.1 + 12 8779 c.8668G>C c.(8668-8670)GAA>CAA p.E2890Q ALMS1_uc002sjf.1_Missense_Mutation_p.E2846Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2276Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2276Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2888 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGAGCTCTTTGAACAAAGCAA 0.428 353 238 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529502 80529502 + Silent SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:80529502A>G uc002sok.1 - 2 1713 c.1443T>C c.(1441-1443)GCT>GCC p.A481A CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 481 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CAGACATGGCAGCCATCTGAT 0.537 HNSCC(69;0.2) 58 192 --- --- --- --- PASS ST3GAL5 8869 broad.mit.edu 37 2 86075211 86075211 + Silent SNP C A A rs148420220 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:86075211C>A uc002sqq.1 - 4 564 c.435G>T c.(433-435)GTG>GTT p.V145V ST3GAL5_uc010fgq.1_Silent_p.V17V|ST3GAL5_uc002sqp.1_Silent_p.V122V NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 145 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 GGGCCTTCTGCACAAAAGGGA 0.498 6 905 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86292524 86292524 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:86292524C>A uc002sqs.2 - 14 2310 c.1931G>T c.(1930-1932)CGG>CTG p.R644L POLR1A_uc010ytb.1_Missense_Mutation_p.R10L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 644 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AAAGCAACCCCGAGTAGTCAT 0.517 5 485 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95537633 95537633 + Silent SNP G A A rs111669261 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:95537633G>A uc002stw.1 + 1 402 c.309G>A c.(307-309)TCG>TCA p.S103S uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 103 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 GCTGGAAGTCGGAGCTGCAGC 0.682 3 31 --- --- --- --- PASS LOC285033 285033 broad.mit.edu 37 2 96906072 96906072 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:96906072T>C uc002svp.1 + 1 96 c.11T>C c.(10-12)GTT>GCT p.V4A LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron NM_001037228 NP_001032305 Q3KRF4 Q3KRF4_HUMAN hypothetical protein LOC285033 4 0 ATGAAAAGTGTTTACAATATT 0.378 44 49 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100210027 100210027 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:100210027G>A uc002tag.2 - 14 2332 c.2096C>T c.(2095-2097)TCT>TTT p.S699F AFF3_uc002taf.2_Missense_Mutation_p.S724F|AFF3_uc010fiq.1_Missense_Mutation_p.S699F|AFF3_uc010yvr.1_Missense_Mutation_p.S852F|AFF3_uc002tah.1_Missense_Mutation_p.S724F NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 699 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GGAGGAGGCAGAGGCAGCCAC 0.617 45 313 --- --- --- --- PASS NPAS2 4862 broad.mit.edu 37 2 101582167 101582167 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:101582167C>T uc002tap.1 + 10 1132 c.846C>T c.(844-846)ACC>ACT p.T282T NPAS2_uc010yvt.1_Silent_p.T347T NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 282 PAS 2. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 TGCTGGGAACCTCAGGCTATG 0.577 31 231 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116599900 116599900 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:116599900G>T uc002tla.1 + 26 2827 c.2370G>T c.(2368-2370)CAG>CAT p.Q790H DPP10_uc002tlb.1_Missense_Mutation_p.Q740H|DPP10_uc002tlc.1_Missense_Mutation_p.Q786H|DPP10_uc002tle.2_Missense_Mutation_p.Q794H|DPP10_uc002tlf.1_Missense_Mutation_p.Q783H NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 790 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGCTACCACAGGAACCAGAAG 0.373 25 85 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116599901 116599901 + Nonsense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:116599901G>T uc002tla.1 + 26 2828 c.2371G>T c.(2371-2373)GAA>TAA p.E791* DPP10_uc002tlb.1_Nonsense_Mutation_p.E741*|DPP10_uc002tlc.1_Nonsense_Mutation_p.E787*|DPP10_uc002tle.2_Nonsense_Mutation_p.E795*|DPP10_uc002tlf.1_Nonsense_Mutation_p.E784* NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 791 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GCTACCACAGGAACCAGAAGA 0.373 26 86 --- --- --- --- PASS STEAP3 55240 broad.mit.edu 37 2 120005403 120005403 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:120005403T>C uc002tlp.2 + 4 798 c.641T>C c.(640-642)GTG>GCG p.V214A STEAP3_uc002tlq.2_Missense_Mutation_p.V224A|STEAP3_uc002tlr.2_Missense_Mutation_p.V214A|STEAP3_uc010fle.2_Missense_Mutation_p.V214A NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 214 Helical; (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 GCCTGGAAGGTGCCCACCCTG 0.642 23 162 --- --- --- --- PASS CLASP1 23332 broad.mit.edu 37 2 122120801 122120801 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:122120801C>T uc002tnc.2 - 36 4543 c.4153G>A c.(4153-4155)GCC>ACC p.A1385T CLASP1_uc010yyv.1_Missense_Mutation_p.A431T|CLASP1_uc002tmz.2_Missense_Mutation_p.A470T|CLASP1_uc002tna.2_Missense_Mutation_p.A431T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A1326T|CLASP1_uc010yza.1_Missense_Mutation_p.A1318T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.A221T NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1385 Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity). axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) GTCAGCTCGGCGTAGTTTTTA 0.468 5 58 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125320836 125320836 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:125320836G>T uc002tno.2 + 11 2053 c.1689G>T c.(1687-1689)CAG>CAT p.Q563H CNTNAP5_uc010flu.2_Missense_Mutation_p.Q564H NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 563 EGF-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCTGCTCCCAGTCCTGGACTA 0.443 3 18 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128388470 128388470 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:128388470T>A uc002top.2 + 35 4899 c.4846T>A c.(4846-4848)TAT>AAT p.Y1616N MYO7B_uc002tor.1_Missense_Mutation_p.Y469N NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1616 SH3 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGAGTTCTCCTATGAGTTCTT 0.348 7 19 --- --- --- --- PASS SPOPL 339745 broad.mit.edu 37 2 139310159 139310159 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:139310159G>T uc002tvh.2 + 5 788 c.388G>T c.(388-390)GAC>TAC p.D130Y NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 130 MATH. nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GCAAGGGAAGGACTGGGGTTT 0.348 51 71 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 140990769 140990769 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:140990769C>T uc002tvj.1 - 91 14758 c.13786G>A c.(13786-13788)GAG>AAG p.E4596K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4596 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCACTGTCTCTCTTATACCA 0.313 TSP Lung(27;0.18) 9 52 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162881449 162881449 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:162881449C>A uc002ubz.2 - 11 1449 c.888G>T c.(886-888)GGG>GGT p.G296G DPP4_uc010fpb.2_5'UTR NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 296 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) AGTAGTGATCCCTggaaggaa 0.318 71 133 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848831 166848831 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:166848831C>T uc010zcz.1 - 26 4939 c.4921G>A c.(4921-4923)GGA>AGA p.G1641R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1652 Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCCTTTGCTCCTTTGATCAGA 0.493 80 135 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166892640 166892640 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:166892640G>T uc010zcz.1 - 16 3332 c.3314C>A c.(3313-3315)CCA>CAA p.P1105Q SCN1A_uc002udo.3_Missense_Mutation_p.P985Q|SCN1A_uc010fpk.2_Missense_Mutation_p.P957Q NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1116 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TACAGCAATTGGTACAGTCAC 0.368 85 205 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166892641 166892641 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:166892641G>T uc010zcz.1 - 16 3331 c.3313C>A c.(3313-3315)CCA>ACA p.P1105T SCN1A_uc002udo.3_Missense_Mutation_p.P985T|SCN1A_uc010fpk.2_Missense_Mutation_p.P957T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1116 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACAGCAATTGGTACAGTCACA 0.368 87 205 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167141025 167141025 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:167141025T>A uc010fpl.2 - 12 2253 c.1912A>T c.(1912-1914)ATG>TTG p.M638L uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.M509L|SCN9A_uc002uds.1_Missense_Mutation_p.M509L|SCN9A_uc002udt.1_Missense_Mutation_p.M509L NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 638 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TTGGGGAGCATGAGGGCTGAG 0.552 30 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179393015 179393015 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:179393015G>A uc010zfg.1 - 310 99883 c.99659C>T c.(99658-99660)TCC>TTC p.S33220F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26915F|TTN_uc010zfi.1_Missense_Mutation_p.S26848F|TTN_uc010zfj.1_Missense_Mutation_p.S26723F|TTN_uc002umq.2_Missense_Mutation_p.S237F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34147 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) GACCATTAAGGAAGCTGTAGC 0.413 11 83 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179544138 179544138 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:179544138C>A uc010zfg.1 - 139 30162 c.29938G>T c.(29938-29940)GAG>TAG p.E9980* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6641*|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10907 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) TTAGGAACCTCAGGCACTTTA 0.378 40 61 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621147 179621147 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:179621147C>A uc010zfh.1 - 44 10767 c.10543G>T c.(10543-10545)GAT>TAT p.D3515Y TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) ATGAAAGAATCATCTTTTAAA 0.428 23 69 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182413546 182413546 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:182413546C>T uc002unx.2 - 8 1113 c.1012G>A c.(1012-1014)GCT>ACT p.A338T CERKL_uc002uny.2_Missense_Mutation_p.A312T|CERKL_uc010zfm.1_Missense_Mutation_p.A294T|CERKL_uc002unz.2_Missense_Mutation_p.A60T|CERKL_uc002uoa.2_Missense_Mutation_p.A243T|CERKL_uc002uob.2_Missense_Mutation_p.A60T|CERKL_uc002uoc.2_Missense_Mutation_p.A199T|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.A107T|CERKL_uc002uoe.2_Missense_Mutation_p.A312T|CERKL_uc002unw.2_5'Flank NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 338 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGCTTGCCAGCGGTGCTGAAG 0.453 5 158 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196825142 196825142 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:196825142C>A uc002utj.3 - 18 2834 c.2733G>T c.(2731-2733)GAG>GAT p.E911D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 911 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTGCATCCCACTCAGTAATCA 0.368 103 182 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196825143 196825143 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:196825143T>C uc002utj.3 - 18 2833 c.2732A>G c.(2731-2733)GAG>GGG p.E911G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 911 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGCATCCCACTCAGTAATCAT 0.373 104 186 --- --- --- --- PASS SF3B1 23451 broad.mit.edu 37 2 198285797 198285797 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:198285797C>T uc002uue.2 - 3 304 c.256G>A c.(256-258)GCC>ACC p.A86T SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.A86T|SF3B1_uc002uug.2_Missense_Mutation_p.A86T NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 86 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCCACAGGGGCATGATATCCT 0.383 96 189 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950232 198950232 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:198950232G>C uc010fsp.2 + 2 2282 c.1991G>C c.(1990-1992)TGT>TCT p.C664S PLCL1_uc002uuv.3_Missense_Mutation_p.C585S NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 664 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AATTGTGGCTGTCAGATTGTA 0.418 58 74 --- --- --- --- PASS BARD1 580 broad.mit.edu 37 2 215617174 215617174 + Silent SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr2:215617174T>A uc002veu.2 - 7 1809 c.1674A>T c.(1672-1674)TCA>TCT p.S558S BARD1_uc010zjm.1_Silent_p.S414S NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 558 Flexible linker. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TACTTACTACTGAGCAGTGGC 0.343 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 36 19 --- --- --- --- PASS CLASP2 23122 broad.mit.edu 37 3 33617681 33617681 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:33617681C>A uc003cfu.2 - 24 2788 c.2434G>T c.(2434-2436)GAG>TAG p.E812* CLASP2_uc003cfs.2_Nonsense_Mutation_p.E12*|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Nonsense_Mutation_p.E405* NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 813 ovary(3)|central_nervous_system(1) 4 GCCACCGCCTCCTCCACATCA 0.448 63 13 --- --- --- --- PASS CLASP2 23122 broad.mit.edu 37 3 33617682 33617682 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:33617682C>G uc003cfu.2 - 24 2787 c.2433G>C c.(2431-2433)GAG>GAC p.E811D CLASP2_uc003cfs.2_Missense_Mutation_p.E11D|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.E404D NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 812 ovary(3)|central_nervous_system(1) 4 CCACCGCCTCCTCCACATCAG 0.448 63 13 --- --- --- --- PASS ZNF167 55888 broad.mit.edu 37 3 44611936 44611936 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:44611936G>C uc010hin.2 + 6 1722 c.1334G>C c.(1333-1335)GGA>GCA p.G445A ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.G294A|ZNF167_uc003cnj.2_Missense_Mutation_p.G445A|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 445 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) AGTGAGTGTGGAAAGGCCTAT 0.463 64 27 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51263153 51263153 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:51263153G>T uc011bds.1 + 15 1349 c.1326G>T c.(1324-1326)AAG>AAT p.K442N NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 442 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GTGTACAAAAGAATATTGAAG 0.438 106 31 --- --- --- --- PASS TNNC1 7134 broad.mit.edu 37 3 52485422 52485422 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:52485422G>A uc003deb.2 - 5 465 c.439C>T c.(439-441)CGC>TGC p.R147C NM_003280 NP_003271 P63316 TNNC1_HUMAN troponin C, slow 147 3.|EF-hand 4. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding 0 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) TAGTCGATGCGGCCGTCGTTG 0.592 23 75 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74313618 74313618 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:74313618C>T uc003dpm.1 - 22 3101 c.3021G>A c.(3019-3021)TCG>TCA p.S1007S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 1007 cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GGTGGACATTCGAGATGGCTG 0.338 50 38 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77671537 77671537 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:77671537C>A uc003dpy.3 + 23 4357 c.3714C>A c.(3712-3714)GAC>GAA p.D1238E ROBO2_uc003dpz.2_Missense_Mutation_p.D1242E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D1242E NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1238 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAGCACTGGACCAGACTCCTG 0.463 12 63 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89391229 89391229 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:89391229C>T uc003dqy.2 + 5 1520 c.1295C>T c.(1294-1296)ACT>ATT p.T432I EPHA3_uc003dqx.1_Missense_Mutation_p.T432I|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 432 Extracellular (Potential). 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) AGCATCACAACTAATCAGGCT 0.463 TSP Lung(6;0.00050) 33 18 --- --- --- --- PASS NSUN3 63899 broad.mit.edu 37 3 93845224 93845224 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:93845224G>T uc003drl.1 + 6 1029 c.913G>T c.(913-915)GCT>TCT p.A305S NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 305 methyltransferase activity skin(1) 1 CTTCACATTTGCTCCCACTGG 0.453 14 195 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97454806 97454806 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:97454806C>T uc010how.1 + 16 3015 c.2972C>T c.(2971-2973)GCT>GTT p.A991V EPHA6_uc003drt.2_Missense_Mutation_p.A383V|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 896 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AGACTTCCAGCTCCCATGGGC 0.413 78 31 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108211997 108211997 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:108211997C>T uc003dxa.1 - 9 856 c.799G>A c.(799-801)GCC>ACC p.A267T NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 267 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ATGCCTCTGGCACCAAAGTGC 0.363 9 116 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108229345 108229345 + Silent SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:108229345G>C uc003dxa.1 - 2 150 c.93C>G c.(91-93)GCC>GCG p.A31A NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 31 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TTCTGAGGAAGGCTGCGGCTT 0.458 43 95 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108229346 108229346 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:108229346G>T uc003dxa.1 - 2 149 c.92C>A c.(91-93)GCC>GAC p.A31D NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 31 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCTGAGGAAGGCTGCGGCTTC 0.453 45 95 --- --- --- --- PASS PVRL3 25945 broad.mit.edu 37 3 110840989 110840989 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:110840989C>T uc003dxt.1 + 4 821 c.821C>T c.(820-822)ACA>ATA p.T274I PVRL3_uc003dxu.1_Missense_Mutation_p.T251I NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 274 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 GTTTCGGTAACAGGATATGAT 0.333 11 132 --- --- --- --- PASS LSAMP 4045 broad.mit.edu 37 3 115560723 115560723 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:115560723C>A uc003ebt.2 - 6 1388 c.888G>T c.(886-888)CTG>CTT p.L296L LSAMP_uc011bis.1_Silent_p.L296L NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 296 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TGGTGACCCCCAGCTTGTTGG 0.502 96 62 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098894 133098894 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:133098894G>T uc003eph.2 + 4 613 c.339G>T c.(337-339)CTG>CTT p.L113L TMEM108_uc003epi.2_Silent_p.L113L|TMEM108_uc003epj.1_Silent_p.L113L|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.L64L NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 113 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 AAAGCTCCCTGTCCACAGGGC 0.657 31 189 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134898766 134898766 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:134898766G>T uc003eqt.2 + 10 2044 c.1824G>T c.(1822-1824)CGG>CGT p.R608R EPHB1_uc003equ.2_Silent_p.R169R NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 608 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AAGCTGTCCGGGAGTTTGCCA 0.483 64 260 --- --- --- --- PASS PPP2R3A 5523 broad.mit.edu 37 3 135768131 135768131 + Silent SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:135768131T>A uc003eqv.1 + 5 2962 c.2397T>A c.(2395-2397)TCT>TCA p.S799S PPP2R3A_uc011blz.1_Silent_p.S63S|PPP2R3A_uc003eqw.1_Silent_p.S178S|PPP2R3A_uc011bma.1_RNA NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 799 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 ATGATGCCTCTAAATTCATCT 0.373 259 109 --- --- --- --- PASS XRN1 54464 broad.mit.edu 37 3 142031585 142031585 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:142031585G>A uc003eus.2 - 41 4740 c.4673C>T c.(4672-4674)TCG>TTG p.S1558L XRN1_uc010huu.2_Missense_Mutation_p.S1012L|XRN1_uc003eut.2_Missense_Mutation_p.S1545L|XRN1_uc003euu.2_Missense_Mutation_p.S1546L NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1558 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ATGAGACGACGAAGGCATTAT 0.428 23 476 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143082377 143082377 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:143082377G>A uc003evn.2 - 14 1735 c.1553C>T c.(1552-1554)ACG>ATG p.T518M NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 518 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CTCTGCTTTCGTCATGTTTTT 0.368 28 276 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155282752 155282752 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:155282752C>A uc011bok.1 - 7 1262 c.985G>T c.(985-987)GTG>TTG p.V329L PLCH1_uc011boj.1_Missense_Mutation_p.V329L|PLCH1_uc011bol.1_Missense_Mutation_p.V311L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 329 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TACATATCCACTTTGGACTGA 0.502 17 258 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160239695 160239695 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:160239695G>C uc003fdn.2 - 11 1081 c.775C>G c.(775-777)CTG>GTG p.L259V NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 259 ARM 5. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GTGTCTACCAGTATCTAATGA 0.333 22 138 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167750493 167750493 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:167750493C>T uc003ffe.2 - 9 1335 c.991G>A c.(991-993)GAG>AAG p.E331K GOLIM4_uc011bpe.1_Missense_Mutation_p.E331K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E303K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E303K NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 331 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TGATGCTCCTCAGGTTCTCTG 0.527 39 641 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173996992 173996992 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:173996992G>A uc003fio.1 + 6 1624 c.1201G>A c.(1201-1203)GAT>AAT p.D401N NLGN1_uc010hww.1_Missense_Mutation_p.D441N|NLGN1_uc003fip.1_Missense_Mutation_p.D401N NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 418 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AAATATAGTAGATAGCGATGA 0.353 52 350 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179399767 179399767 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:179399767G>A uc003fkh.2 + 2 351 c.270G>A c.(268-270)ATG>ATA p.M90I USP13_uc003fkf.2_Missense_Mutation_p.M90I NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 90 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) GTGTATACATGCACCTGAAAA 0.443 124 525 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179501877 179501877 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:179501877G>T uc003fkh.2 + 21 2621 c.2540G>T c.(2539-2541)AGG>ATG p.R847M NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 847 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) GCCTCAGAAAGGCCCCCTAAA 0.388 48 791 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193132516 193132516 + Nonsense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:193132516T>A uc003ftd.2 - 26 2974 c.2866A>T c.(2866-2868)AAG>TAG p.K956* ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 956 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGCACCAGCTTAGGGTAGGCA 0.373 191 35 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193272586 193272586 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr3:193272586C>T uc003ftd.2 - 1 111 c.3G>A c.(1-3)ATG>ATA p.M1I ATP13A4_uc003fte.1_Missense_Mutation_p.M1I|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 1 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAAAGTGTCCCATGAAAAAGT 0.517 34 475 --- --- --- --- PASS MFSD7 84179 broad.mit.edu 37 4 680322 680322 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:680322G>A uc003gay.2 - 2 350 c.293C>T c.(292-294)GCG>GTG p.A98V MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A98V|MFSD7_uc003gaz.2_Missense_Mutation_p.A76V|MFSD7_uc003gba.2_Missense_Mutation_p.A98V|MFSD7_uc003gbb.1_Missense_Mutation_p.A34V NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 98 transmembrane transport integral to membrane 0 CTGACTCACCGCCGCACGGAG 0.657 68 190 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3189570 3189570 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:3189570G>A uc011bvq.1 + 40 5333 c.5188G>A c.(5188-5190)GAA>AAA p.E1730K NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1728 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGAACACAGTGAAGGGAAACA 0.398 16 129 --- --- --- --- PASS TADA2B 93624 broad.mit.edu 37 4 7056107 7056107 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:7056107G>T uc003gjw.3 + 2 740 c.589G>T c.(589-591)GTG>TTG p.V197L TADA2B_uc010idi.2_Missense_Mutation_p.V122L NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 TGACGACGACGTGGAGATCGA 0.582 69 105 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8621244 8621244 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:8621244G>T uc003glm.2 + 11 1985 c.1859G>T c.(1858-1860)CGG>CTG p.R620L CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R483L|CPZ_uc003glo.2_Missense_Mutation_p.R609L|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 620 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GACCCGCTCCGGGCGCGCAGG 0.667 57 61 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9783698 9783698 + Missense_Mutation SNP C A A rs147198780 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:9783698C>A uc003gmb.3 + 1 441 c.45C>A c.(43-45)TTC>TTA p.F15L NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 15 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CGGGGCAGTTCGCTCTATACC 0.721 3 16 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9783701 9783701 + Silent SNP T G G rs140576108 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:9783701T>G uc003gmb.3 + 1 444 c.48T>G c.(46-48)GCT>GCG p.A16A NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 16 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGCAGTTCGCTCTATACCAGC 0.716 3 16 --- --- --- --- PASS NCAPG 64151 broad.mit.edu 37 4 17827057 17827057 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:17827057G>T uc003gpp.2 + 11 1702 c.1526G>T c.(1525-1527)TGC>TTC p.C509F NCAPG_uc011bxj.1_Missense_Mutation_p.C18F NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 509 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TTGGAAAATTGCATTACCTTA 0.318 8 48 --- --- --- --- PASS LGI2 55203 broad.mit.edu 37 4 25026481 25026481 + Nonsense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:25026481G>C uc003grf.2 - 4 473 c.374C>G c.(373-375)TCA>TGA p.S125* NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 125 LRR 2. extracellular region 0 Breast(46;0.173) GGCATTTCTTGAAATGGTTTC 0.363 15 67 --- --- --- --- PASS TLR10 81793 broad.mit.edu 37 4 38776273 38776273 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:38776273G>A uc003gti.2 - 2 1318 c.939C>T c.(937-939)TAC>TAT p.Y313Y TLR10_uc003gtj.2_Silent_p.Y313Y|TLR10_uc003gtk.2_Silent_p.Y313Y NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 313 LRR 7.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 CCTGTTGAATGTAAAACACTC 0.338 14 90 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52928491 52928491 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:52928491C>G uc003gzl.2 + 4 693 c.415C>G c.(415-417)CAA>GAA p.Q139E SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q139E|SPATA18_uc003gzk.1_Missense_Mutation_p.Q139E NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 139 Potential. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CAACCAGGTTCAAGACGAGTA 0.368 89 72 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56738082 56738082 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:56738082C>T uc003hbe.1 + 8 1190 c.1032C>T c.(1030-1032)GCC>GCT p.A344A EXOC1_uc003hbf.1_Silent_p.A344A|EXOC1_uc003hbg.1_Silent_p.A344A NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 344 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AGCTTTTTGCCCGGAGACTGG 0.398 28 70 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90856839 90856839 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:90856839G>A uc003hst.2 + 6 2079 c.2008G>A c.(2008-2010)GAA>AAA p.E670K MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E412K NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 670 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ACAACCAAAGGAAGCAATAGT 0.348 57 21 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96762275 96762275 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:96762275G>T uc003htr.3 + 1 1037 c.974G>T c.(973-975)AGC>ATC p.S325I NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 325 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATGGTAAACAGCAAGCTCGCC 0.428 34 138 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123333884 123333884 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:123333884C>G uc003ieo.2 + 10 1401 c.1169C>G c.(1168-1170)ACC>AGC p.T390S ADAD1_uc003iep.2_Missense_Mutation_p.T379S|ADAD1_uc003ieq.2_Missense_Mutation_p.T372S NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 390 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 GACAAATTGACCAGATGGGAA 0.413 74 256 --- --- --- --- PASS GLRB 2743 broad.mit.edu 37 4 158065105 158065105 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr4:158065105C>A uc003ipj.2 + 8 1100 c.898C>A c.(898-900)CCC>ACC p.P300T NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 300 Helical; (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAGAGTGCCCCTGGGTAA 0.448 32 28 --- --- --- --- PASS MTRR 4552 broad.mit.edu 37 5 7897251 7897251 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:7897251G>T uc003jed.2 + 14 1954 c.1924G>T c.(1924-1926)GTT>TTT p.V642F MTRR_uc003jee.3_Missense_Mutation_p.V615F|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 642 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGATGCTCCTGTTGGGGAGGA 0.448 84 190 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11236820 11236820 + Missense_Mutation SNP T G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:11236820T>G uc003jfa.1 - 10 1889 c.1744A>C c.(1744-1746)AAC>CAC p.N582H CTNND2_uc010itt.2_Missense_Mutation_p.N491H|CTNND2_uc011cmy.1_Missense_Mutation_p.N245H|CTNND2_uc011cmz.1_Missense_Mutation_p.N149H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.N149H NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 582 ARM 3. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TTAATTTTGTTGTCTCCAAAA 0.458 191 213 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747337 19747337 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:19747337G>T uc003jgc.2 - 3 614 c.237C>A c.(235-237)TCC>TCA p.S79S CDH18_uc003jgd.2_Silent_p.S79S|CDH18_uc011cnm.1_Silent_p.S79S NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 79 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGTCAGAATTGGAGTGCAGCT 0.383 20 238 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35861006 35861006 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:35861006G>T uc003jjs.2 + 2 224 c.135G>T c.(133-135)CAG>CAT p.Q45H IL7R_uc011coo.1_Missense_Mutation_p.Q45H|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 45 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GCTATAGCCAGTTGGAAGTGA 0.448 13 955 --- --- --- --- PASS SKP2 6502 broad.mit.edu 37 5 36168477 36168477 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:36168477G>A uc003jkc.1 + 5 781 c.599G>A c.(598-600)GGC>GAC p.G200D SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.G200D NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 200 LRR 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCCTCCACGGCATACTGTCT 0.507 7 958 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40959652 40959652 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:40959652G>C uc003jmh.2 + 12 1705 c.1591G>C c.(1591-1593)GGT>CGT p.G531R C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 531 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCCCAGTGGGGGTGGGAGATC 0.557 17 35 --- --- --- --- PASS OXCT1 5019 broad.mit.edu 37 5 41805702 41805702 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:41805702T>C uc003jmn.2 - 9 1253 c.922A>G c.(922-924)AGG>GGG p.R308G NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 308 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) AGAGCGGCCCTCTTGATGATT 0.443 109 104 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262720 45262720 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:45262720C>A uc003jok.2 - 8 2001 c.1976G>T c.(1975-1977)CGC>CTC p.R659L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 659 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGTCCTCATGCGGGAGGTCGG 0.567 101 153 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208933 140208933 + Silent SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:140208933G>C uc003lho.2 + 1 1284 c.1257G>C c.(1255-1257)TCG>TCC p.S419S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S419S|PCDHA6_uc011dab.1_Silent_p.S419S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 419 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCGTGTCGGCCTATGAGT 0.612 65 408 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140730487 140730487 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:140730487C>T uc003ljo.1 + 1 660 c.660C>T c.(658-660)AGC>AGT p.S220S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S220S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 220 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTCTAAGCGGCACCACCC 0.512 14 66 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140768219 140768219 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:140768219C>T uc003lkc.1 + 1 768 c.768C>T c.(766-768)TAC>TAT p.Y256Y 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_uc011dav.1_Silent_p.Y256Y NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 256 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|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) AAAACGTGTACCCGGGGACCA 0.507 285 104 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168201350 168201350 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:168201350C>A uc003mab.2 - 13 1605 c.1185G>T c.(1183-1185)CGG>CGT p.R395R SLIT3_uc010jjg.2_Silent_p.R395R|SLIT3_uc010jji.2_Silent_p.R395R|SLIT3_uc003mac.1_Silent_p.R192R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 395 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGTGTTCACCCGCAGGCAGT 0.537 376 157 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168201351 168201351 + Missense_Mutation SNP C A A rs2288792 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:168201351C>A uc003mab.2 - 13 1604 c.1184G>T c.(1183-1185)CGG>CTG p.R395L SLIT3_uc010jjg.2_Missense_Mutation_p.R395L|SLIT3_uc010jji.2_Missense_Mutation_p.R395L|SLIT3_uc003mac.1_Missense_Mutation_p.R192L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 395 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTGTTCACCCGCAGGCAGTT 0.542 375 157 --- --- --- --- PASS DOK3 79930 broad.mit.edu 37 5 176931128 176931128 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr5:176931128C>T uc003mhk.2 - 6 1352 c.1347G>A c.(1345-1347)CTG>CTA p.L449L DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Silent_p.L393L NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 449 Pro-rich. cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) ACTGGGCCTCCAGGGTACTGT 0.687 31 9 --- --- --- --- PASS SLC22A23 63027 broad.mit.edu 37 6 3324141 3324141 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:3324141C>T uc003mvm.3 - 4 1009 c.1009G>A c.(1009-1011)GCC>ACC p.A337T SLC22A23_uc003mvn.3_Missense_Mutation_p.A56T|SLC22A23_uc003mvo.3_Missense_Mutation_p.A56T|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.A337T|SLC22A23_uc010jno.2_Missense_Mutation_p.A337T NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 337 ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) CGGCACAGGGCGGCTAGCCCA 0.612 14 42 --- --- --- --- PASS BMP6 654 broad.mit.edu 37 6 7862565 7862565 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:7862565G>T uc003mxu.3 + 4 1216 c.1038G>T c.(1036-1038)CTG>CTT p.L346L NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 346 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CCGCAGGCCTGGTGGGCAGAG 0.547 76 209 --- --- --- --- PASS HSPA1L 3305 broad.mit.edu 37 6 31778147 31778147 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:31778147T>A uc003nxh.2 - 2 1786 c.1603A>T c.(1603-1605)AGG>TGG p.R535W HSPA1L_uc010jte.2_Missense_Mutation_p.R535W NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 535 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 ATTTTCTCCCTCTGGACCTCA 0.448 232 302 --- --- --- --- PASS NEU1 4758 broad.mit.edu 37 6 31827543 31827543 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:31827543T>A uc003nxq.3 - 6 1357 c.1201A>T c.(1201-1203)ACA>TCA p.T401S NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.T232S|NEU1_uc003nxs.3_3'UTR NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 401 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) ATGCTCTCTGTGTAGTGGTTC 0.572 87 161 --- --- --- --- PASS RGL2 5863 broad.mit.edu 37 6 33263293 33263293 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:33263293C>A uc003odv.2 - 7 1145 c.1012G>T c.(1012-1014)GTG>TTG p.V338L RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.V256L|RGL2_uc011drb.1_Missense_Mutation_p.V256L NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 338 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 ACCTCTGCCACGCGGATCCAC 0.617 14 89 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38754631 38754631 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:38754631C>G uc003ooe.1 + 16 2435 c.1835C>G c.(1834-1836)ACT>AGT p.T612S 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 GTTCGGGAAACTAAGTGTATG 0.368 34 68 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38879313 38879313 + Nonsense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:38879313T>A uc003ooe.1 + 64 9759 c.9159T>A c.(9157-9159)TAT>TAA p.Y3053* uc003oof.1_Intron 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 AAAACATTTATGCTGAAAAGG 0.294 28 67 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42789780 42789780 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:42789780C>T uc003osn.1 + 3 171 c.20C>T c.(19-21)TCG>TTG p.S7L KIAA0240_uc003osm.1_Missense_Mutation_p.S7L|KIAA0240_uc011duw.1_Missense_Mutation_p.S7L|KIAA0240_uc003oso.1_Missense_Mutation_p.S7L|KIAA0240_uc003osp.1_Missense_Mutation_p.S7L NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 7 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GATGATGACTCGTGTCTCCTT 0.358 13 253 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70669889 70669889 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:70669889G>A uc003pfc.1 + 10 1055 c.938G>A c.(937-939)GGT>GAT p.G313D COL19A1_uc010kam.1_Missense_Mutation_p.G209D NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 313 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTCTTTTAGGGTGAAAATGGT 0.328 22 56 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87971382 87971382 + Nonsense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:87971382G>T uc003plm.3 + 8 8076 c.8035G>T c.(8035-8037)GAG>TAG p.E2679* NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGATTGCACTGAGCTTGTCTT 0.343 11 24 --- --- --- --- PASS VNN3 55350 broad.mit.edu 37 6 133052588 133052588 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:133052588T>A uc003qdp.2 - 3 495 c.423A>T c.(421-423)CAA>CAT p.Q141H VNN3_uc010kfs.2_Intron|VNN3_uc011ecl.1_Intron|VNN3_uc011ecm.1_Intron|VNN3_uc011ecn.1_5'UTR|VNN3_uc010kfu.2_Intron|VNN3_uc010kfv.2_Intron|VNN3_uc010kfw.2_Intron|VNN3_uc010kfx.2_Intron|VNN3_uc010kfy.2_Intron|VNN3_uc010kfz.2_Intron NM_078625 NP_523239 SubName: Full=PAGEL-beta; 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) acaatttccattggccatatt 0.189 20 102 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138196127 138196127 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:138196127C>G uc003qhr.2 + 3 507 c.441C>G c.(439-441)CTC>CTG p.L147L TNFAIP3_uc003qhs.2_Silent_p.L147L NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 147 TRAF-binding.|OTU. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.L147fs*7(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TGGAGTCTCTCAAATCTCAGG 0.483 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 39 238 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144768801 144768801 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:144768801G>A uc003qkt.2 + 15 1878 c.1786G>A c.(1786-1788)GAT>AAT p.D596N UTRN_uc010khq.1_Missense_Mutation_p.D596N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 596 Interaction with SYNM.|Spectrin 4. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GATTGGCCAGGATGTGGGACA 0.378 36 181 --- --- --- --- PASS STXBP5 134957 broad.mit.edu 37 6 147636666 147636666 + Nonsense_Mutation SNP T G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:147636666T>G uc003qlz.2 + 15 1579 c.1418T>G c.(1417-1419)TTA>TGA p.L473* STXBP5_uc010khz.1_Nonsense_Mutation_p.L473*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.L144* NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 473 WD 8. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CTACAAGTATTATATAAGCTA 0.284 20 27 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152536168 152536168 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:152536168C>A uc010kiw.2 - 122 22821 c.22219G>T c.(22219-22221)GCT>TCT p.A7407S SYNE1_uc010kiv.2_Missense_Mutation_p.A1931S|SYNE1_uc003qos.3_Missense_Mutation_p.A1931S|SYNE1_uc003qot.3_Missense_Mutation_p.A7336S|SYNE1_uc003qou.3_Missense_Mutation_p.A7407S|SYNE1_uc003qor.3_Missense_Mutation_p.A307S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7407 Spectrin 24.|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) AAATCTGGAGCCATGCTGCTG 0.388 HNSCC(10;0.0054) 80 135 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152536169 152536169 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr6:152536169C>A uc010kiw.2 - 122 22820 c.22218G>T c.(22216-22218)ATG>ATT p.M7406I SYNE1_uc010kiv.2_Missense_Mutation_p.M1930I|SYNE1_uc003qos.3_Missense_Mutation_p.M1930I|SYNE1_uc003qot.3_Missense_Mutation_p.M7335I|SYNE1_uc003qou.3_Missense_Mutation_p.M7406I|SYNE1_uc003qor.3_Missense_Mutation_p.M306I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7406 Spectrin 24.|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) AATCTGGAGCCATGCTGCTGA 0.388 HNSCC(10;0.0054) 81 135 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2255539 2255539 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:2255539C>A uc003slh.1 - 9 1171 c.905G>T c.(904-906)GGC>GTC p.G302V MAD1L1_uc003sle.1_Missense_Mutation_p.G31V|MAD1L1_uc003slf.1_Missense_Mutation_p.G302V|MAD1L1_uc003slg.1_Missense_Mutation_p.G302V|MAD1L1_uc010ksh.1_Missense_Mutation_p.G302V|MAD1L1_uc003sli.1_Missense_Mutation_p.G210V|MAD1L1_uc010ksi.1_Missense_Mutation_p.G255V|MAD1L1_uc010ksj.2_Missense_Mutation_p.G302V NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 302 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CAGCTCCAAGCCAACCAGCGT 0.637 123 214 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2255540 2255540 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:2255540C>A uc003slh.1 - 9 1170 c.904G>T c.(904-906)GGC>TGC p.G302C MAD1L1_uc003sle.1_Missense_Mutation_p.G31C|MAD1L1_uc003slf.1_Missense_Mutation_p.G302C|MAD1L1_uc003slg.1_Missense_Mutation_p.G302C|MAD1L1_uc010ksh.1_Missense_Mutation_p.G302C|MAD1L1_uc003sli.1_Missense_Mutation_p.G210C|MAD1L1_uc010ksi.1_Missense_Mutation_p.G255C|MAD1L1_uc010ksj.2_Missense_Mutation_p.G302C NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 302 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) AGCTCCAAGCCAACCAGCGTC 0.632 125 213 --- --- --- --- PASS PHF14 9678 broad.mit.edu 37 7 11078436 11078436 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:11078436G>A uc003sry.1 + 11 2465 c.2030G>A c.(2029-2031)AGT>AAT p.S677N PHF14_uc011jxi.1_Missense_Mutation_p.S392N|PHF14_uc003srz.2_Missense_Mutation_p.S677N|PHF14_uc011jxj.1_Missense_Mutation_p.S392N NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 677 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AAACTTCGAAGTGAAGGACAA 0.353 6 28 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21723437 21723437 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:21723437A>T uc003svc.2 + 33 5548 c.5517A>T c.(5515-5517)CAA>CAT p.Q1839H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1839 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGCTGTCTCAACTTCGTCACC 0.438 Kartagener_syndrome 204 234 --- --- --- --- PASS GHRHR 2692 broad.mit.edu 37 7 31008714 31008714 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:31008714C>A uc003tbx.2 + 3 245 c.197C>A c.(196-198)CCA>CAA p.P66Q GHRHR_uc003tbw.1_Missense_Mutation_p.P66Q|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 66 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) CTGTGCTGGCCAACGGCAGGC 0.637 4 6 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 35050089 35050089 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:35050089G>T uc003tem.3 - 6 681 c.536C>A c.(535-537)ACA>AAA p.T179K NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 179 integral to membrane 0 CCTTAAATATGTGCCATATAT 0.234 10 26 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005725 42005725 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:42005725C>A uc011kbh.1 - 15 3037 c.2946G>T c.(2944-2946)GGG>GGT p.G982G GLI3_uc011kbg.1_Silent_p.G923G NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 982 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CGTGGGCTCCCCCGTCGCTGC 0.746 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 8 8 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48431646 48431646 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:48431646A>G uc003toq.2 + 38 11808 c.11783A>G c.(11782-11784)GAC>GGC p.D3928G ABCA13_uc010kys.1_Missense_Mutation_p.D1002G|ABCA13_uc003tos.1_Missense_Mutation_p.D754G|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3928 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATCCTGTTGGACAACCTCACC 0.507 16 106 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71252808 71252808 + Silent SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:71252808A>G uc003twa.3 - 6 1139 c.612T>C c.(610-612)AGT>AGC p.S204S CALN1_uc003twb.3_Silent_p.S246S|CALN1_uc003twc.3_Silent_p.S204S NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 204 Helical; Anchor for type IV membrane protein; (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TCAGCATGACACTGATGATGA 0.582 9 97 --- --- --- --- PASS CCDC146 57639 broad.mit.edu 37 7 76916837 76916837 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:76916837C>A uc003uga.2 + 17 2485 c.2358C>A c.(2356-2358)GAC>GAA p.D786E CCDC146_uc010ldp.2_Missense_Mutation_p.D500E|CCDC146_uc003ugc.2_Missense_Mutation_p.D123E NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 786 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GGCTCACAGACAGGCTCTGCA 0.522 45 59 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99779815 99779815 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:99779815G>A uc003utx.1 + 3 374 c.219G>A c.(217-219)CCG>CCA p.P73P STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P73P NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 73 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAACAACACCGGTGAGTCAGC 0.333 4 67 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100452291 100452291 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:100452291G>T uc003uwp.2 + 3 373 c.231G>T c.(229-231)CTG>CTT p.L77L SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 77 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCATGCTGCTGGTTGCCTACT 0.612 115 170 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100682800 100682800 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:100682800C>G uc003uxp.1 + 3 8156 c.8103C>G c.(8101-8103)ACC>ACG p.T2701T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2701 Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTGTCAGCACCACGCTGTTGG 0.488 76 521 --- --- --- --- PASS MOGAT3 346606 broad.mit.edu 37 7 100841537 100841537 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:100841537G>A uc003uyc.2 - 5 770 c.603C>T c.(601-603)GTC>GTT p.V201V MOGAT3_uc010lhr.2_Silent_p.V201V NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 201 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GCTCCCCGGGGACTGAATACA 0.672 25 165 --- --- --- --- PASS EMID2 136227 broad.mit.edu 37 7 101006372 101006372 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:101006372C>T uc010lhy.1 + 1 251 c.59C>T c.(58-60)GCC>GTC p.A20V EMID2_uc003uyo.1_Missense_Mutation_p.A20V NM_133457 NP_597714 Q96A83 EMID2_HUMAN EMI domain containing 2 20 collagen ovary(1) 1 Lung NSC(181;0.215) TCGGCGCTGGCCACCGGCTTC 0.751 3 7 --- --- --- --- PASS ORC5L 5001 broad.mit.edu 37 7 103838219 103838219 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:103838219T>C uc003vcb.2 - 4 506 c.395A>G c.(394-396)GAT>GGT p.D132G ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Missense_Mutation_p.D132G|ORC5L_uc003vcd.2_Missense_Mutation_p.D132G NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 132 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 TGCTTCCATATCTCTTAGATA 0.199 19 16 --- --- --- --- PASS SLC26A3 1811 broad.mit.edu 37 7 107418637 107418637 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:107418637G>C uc003ver.2 - 13 1708 c.1497C>G c.(1495-1497)ATC>ATG p.I499M SLC26A3_uc003ves.2_Missense_Mutation_p.I464M NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 499 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TCCTGAACACGATGGTTAGCA 0.473 18 22 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111405235 111405235 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:111405235C>A uc003vfx.2 - 38 4201 c.3932G>T c.(3931-3933)CGT>CTT p.R1311L DOCK4_uc011kml.1_Missense_Mutation_p.R192L|DOCK4_uc011kmm.1_Missense_Mutation_p.R218L|DOCK4_uc003vfw.2_Missense_Mutation_p.R761L|DOCK4_uc003vfy.2_Missense_Mutation_p.R1356L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1311 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TGGTTCAAGACGTTGCTGGTC 0.328 4 4 --- --- --- --- PASS ANKRD7 56311 broad.mit.edu 37 7 117876971 117876971 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:117876971G>A uc003vji.2 + 5 876 c.703G>A c.(703-705)GTT>ATT p.V235I NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 235 male gonad development 0 TATTTCCATGGTTTTACTGCG 0.393 230 302 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140287512 140287512 + Missense_Mutation SNP T G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:140287512T>G uc010lnj.2 - 2 1209 c.1064A>C c.(1063-1065)CAG>CCG p.Q355P DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q355P|DENND2A_uc003vvw.2_Missense_Mutation_p.Q355P|DENND2A_uc003vvx.2_Missense_Mutation_p.Q355P NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 355 ovary(3)|breast(1) 4 Melanoma(164;0.00956) CAGCTTAGTCTGCGCGTACCA 0.493 46 117 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142626552 142626552 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:142626552C>T uc003wby.1 - 4 722 c.458G>A c.(457-459)CGC>CAC p.R153H TRPV5_uc003wbz.2_Missense_Mutation_p.R153H NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 153 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GGGACTACGGCGGAAGGCAGT 0.622 56 66 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142724138 142724138 + Missense_Mutation SNP C T T rs147361429 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:142724138C>T uc003wcc.1 - 1 82 c.82G>A c.(82-84)GCT>ACT p.A28T NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) AAGAATATAGCAAAAAGAATG 0.418 30 129 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149475964 149475964 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:149475964T>C uc010lpk.2 + 7 930 c.930T>C c.(928-930)TCT>TCC p.S310S SSPO_uc010lpl.1_5'UTR NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 310 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCTCCATCTCTGTGGACCACG 0.637 72 175 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149489487 149489487 + Silent SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:149489487G>C uc010lpk.2 + 38 5640 c.5640G>C c.(5638-5640)GGG>GGC p.G1880G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1880 EGF-like 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGGCCTGGGCAACGCATCA 0.706 8 17 --- --- --- --- PASS ABCB8 11194 broad.mit.edu 37 7 150741298 150741298 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:150741298G>A uc003wil.3 + 16 2150 c.2057G>A c.(2056-2058)CGT>CAT p.R686H ABCB8_uc010lpx.2_Intron|ABCB8_uc011kvd.1_Missense_Mutation_p.R581H|ABCB8_uc003wim.3_Missense_Mutation_p.R464H|ABCB8_uc003wik.3_Missense_Mutation_p.R669H NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 686 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCGATGGCCGTGTCTGGGAG 0.602 76 203 --- --- --- --- PASS ACCN3 9311 broad.mit.edu 37 7 150748977 150748977 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:150748977C>T uc003win.2 + 7 1663 c.1295C>T c.(1294-1296)TCA>TTA p.S432L ACCN3_uc003wio.2_Missense_Mutation_p.S432L|ACCN3_uc003wip.2_Missense_Mutation_p.S432L|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 432 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TATGAGATGTCAGAGCTGCTT 0.587 32 224 --- --- --- --- PASS GBX1 2636 broad.mit.edu 37 7 150864346 150864346 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:150864346G>C uc011kvg.1 - 1 522 c.290C>G c.(289-291)TCG>TGG p.S97W NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 97 Ala-rich.|Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCACCATCGAGGGCACAGC 0.637 3 9 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151932996 151932996 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr7:151932996C>A uc003wla.2 - 16 2894 c.2675G>T c.(2674-2676)GGA>GTA p.G892V MLL3_uc003wkz.2_5'UTR NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 892 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTCCGCTTTCCTGGAAATCC 0.493 N medulloblastoma 7 136 --- --- --- --- PASS MFHAS1 9258 broad.mit.edu 37 8 8748528 8748528 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:8748528G>T uc003wsj.1 - 1 2604 c.2041C>A c.(2041-2043)CTA>ATA p.L681I NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 681 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CACCAGCTTAGCCACAGTCGC 0.622 20 13 --- --- --- --- PASS EFHA2 286097 broad.mit.edu 37 8 16884802 16884802 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:16884802G>C uc003wxd.2 + 1 56 c.14G>C c.(13-15)CGA>CCA p.R5P NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 5 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) GCTGCGCTGCGAAGGCTCTTG 0.622 7 27 --- --- --- --- PASS MTUS1 57509 broad.mit.edu 37 8 17512165 17512165 + Nonsense_Mutation SNP A C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:17512165A>C uc003wxv.2 - 10 3593 c.3119T>G c.(3118-3120)TTA>TGA p.L1040* MTUS1_uc003wxt.2_Nonsense_Mutation_p.L287*|MTUS1_uc011kyg.1_Nonsense_Mutation_p.L185*|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Nonsense_Mutation_p.L986*|MTUS1_uc003wxs.2_Nonsense_Mutation_p.L206* NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 1040 Potential. Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CGCAGCATTTAAGTTGTCAAA 0.413 62 24 --- --- --- --- PASS SH2D4A 63898 broad.mit.edu 37 8 19177078 19177078 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:19177078C>T uc003wzb.2 + 2 356 c.20C>T c.(19-21)TCG>TTG p.S7L SH2D4A_uc011kym.1_Intron|SH2D4A_uc003wzc.2_Missense_Mutation_p.S7L NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 7 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) CAGATACTGTCGGAGATGTAC 0.468 16 86 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25203000 25203000 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:25203000A>T uc003xeg.2 + 26 2764 c.2627A>T c.(2626-2628)GAA>GTA p.E876V DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E590V|DOCK5_uc003xei.2_Missense_Mutation_p.E446V|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 876 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAGTGCAGAGAAGTGCTGCTG 0.552 25 106 --- --- --- --- PASS FGFR1 2260 broad.mit.edu 37 8 38275843 38275843 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:38275843G>A uc003xlp.2 - 11 2275 c.1333C>T c.(1333-1335)CGG>TGG p.R445W FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R443W|FGFR1_uc011lbp.1_Missense_Mutation_p.R356W|FGFR1_uc011lbq.1_Missense_Mutation_p.R354W|FGFR1_uc010lwk.2_Missense_Mutation_p.R435W NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 445 Cytoplasmic (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CGTGATGGCCGAACCAGAAGA 0.607 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 4 105 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39564308 39564308 + Splice_Site SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:39564308G>T uc003xni.2 + 18 1903 c.1903_splice c.e18-1 p.I635_splice ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.I611_splice NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTCTGTTTCAGATATGTAATA 0.333 15 8 --- --- --- --- PASS HOOK3 84376 broad.mit.edu 37 8 42868200 42868200 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:42868200C>T uc003xpr.2 + 20 2088 c.1846C>T c.(1846-1848)CGT>TGT p.R616C NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 616 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GCAGGTCATCCGTACTTTAGA 0.318 T RET papillary thyroid 28 35 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43173651 43173651 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:43173651A>T uc003xpz.1 + 9 1116 c.1073A>T c.(1072-1074)AAC>ATC p.N358I POTEA_uc003xqa.1_Missense_Mutation_p.N312I NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 358 ovary(1) 1 TTATCAGAAAACCTGACTGAT 0.378 15 175 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52733146 52733146 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:52733146C>A uc003xqx.3 - 6 1180 c.839G>T c.(838-840)AGA>ATA p.R280I PCMTD1_uc011ldm.1_Missense_Mutation_p.R150I|PCMTD1_uc003xqw.3_Missense_Mutation_p.R280I|PCMTD1_uc011ldn.1_Missense_Mutation_p.R92I|PCMTD1_uc010lya.2_Missense_Mutation_p.R204I NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 280 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) CTGTTTAACTCTCTTTCTTTT 0.343 11 551 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55540455 55540455 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:55540455T>C uc003xsd.1 + 4 4161 c.4013T>C c.(4012-4014)GTC>GCC p.V1338A RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1338 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTGTCAATGTCTGCAATACC 0.383 116 181 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59506795 59506795 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:59506795G>A uc003xtt.2 - 23 2161 c.1947C>T c.(1945-1947)TCC>TCT p.S649S NSMAF_uc011lee.1_Silent_p.S680S NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 649 WD 1. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) ACTGACCTTGGGATGTTGTGA 0.428 46 73 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61655205 61655205 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:61655205C>T uc003xue.2 + 2 1691 c.1214C>T c.(1213-1215)CCA>CTA p.P405L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 405 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATGAGTAATCCAGCAGGCACT 0.502 40 367 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61769073 61769073 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:61769073G>C uc003xue.2 + 34 7711 c.7234G>C c.(7234-7236)GAA>CAA p.E2412Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2412 Potential. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AATTGAGGCCGAAAGAGCTGC 0.478 5 81 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70514019 70514019 + Missense_Mutation SNP G A A rs61747207 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:70514019G>A uc010lza.1 + 10 1733 c.1016G>A c.(1015-1017)CGT>CAT p.R339H SULF1_uc003xyd.2_Missense_Mutation_p.R339H|SULF1_uc003xye.2_Missense_Mutation_p.R339H|SULF1_uc003xyf.2_Missense_Mutation_p.R339H|SULF1_uc003xyg.2_Missense_Mutation_p.R339H|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 339 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTTGATATTCGTGTGCCTTTT 0.423 76 665 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70540420 70540420 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:70540420A>T uc010lza.1 + 18 2774 c.2057A>T c.(2056-2058)GAG>GTG p.E686V SULF1_uc003xyd.2_Missense_Mutation_p.E686V|SULF1_uc003xye.2_Missense_Mutation_p.E686V|SULF1_uc003xyf.2_Missense_Mutation_p.E686V|SULF1_uc003xyg.2_Missense_Mutation_p.E686V|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 686 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TACAATAAAGAGAAAGGTGTA 0.348 154 192 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87588256 87588256 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:87588256C>G uc003ydx.2 - 18 2252 c.2206G>C c.(2206-2208)GAA>CAA p.E736Q CNGB3_uc010maj.2_Missense_Mutation_p.E593Q NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 736 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 tcttcattttcttttccttta 0.229 58 166 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104897620 104897620 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:104897620G>A uc003yls.2 + 2 368 c.127G>A c.(127-129)GCA>ACA p.A43T RIMS2_uc003ylp.2_Missense_Mutation_p.A265T|RIMS2_uc003ylw.2_Missense_Mutation_p.A73T|RIMS2_uc003ylq.2_Missense_Mutation_p.A73T|RIMS2_uc003ylr.2_Missense_Mutation_p.A73T NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 296 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTCGGATACCGCAATGCCTAG 0.413 HNSCC(12;0.0054) 14 186 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104987664 104987664 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:104987664G>T uc003yls.2 + 14 2432 c.2191G>T c.(2191-2193)GGG>TGG p.G731W RIMS2_uc003ylp.2_Missense_Mutation_p.G953W|RIMS2_uc003ylw.2_Missense_Mutation_p.G745W|RIMS2_uc003ylq.2_Missense_Mutation_p.G745W|RIMS2_uc003ylr.2_Missense_Mutation_p.G792W|RIMS2_uc003ylt.2_Missense_Mutation_p.G338W NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1015 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTCACCATCAGGGTCTCCTCA 0.408 HNSCC(12;0.0054) 39 76 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139833462 139833462 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:139833462G>T uc003yvd.2 - 7 1609 c.1162C>A c.(1162-1164)CTA>ATA p.L388I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 388 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCGATGGGTAGTGTCTGCACC 0.582 HNSCC(7;0.00092) 81 114 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139890388 139890388 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:139890388G>A uc003yvd.2 - 3 710 c.263C>T c.(262-264)ACG>ATG p.T88M NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 88 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTCGAAGGCCGTGGTGGGCCG 0.697 HNSCC(7;0.00092) 3 36 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140631068 140631068 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr8:140631068G>A uc003yvf.1 - 2 622 c.558C>T c.(556-558)TTC>TTT p.F186F KCNK9_uc003yvg.1_Silent_p.F186F|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 186 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) AGGCGTGGAAGAAGCTCCACT 0.587 17 218 --- --- --- --- PASS DMRT2 10655 broad.mit.edu 37 9 1053757 1053757 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:1053757C>T uc003zha.2 + 3 761 c.561C>T c.(559-561)TTC>TTT p.F187F DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Silent_p.F31F|DMRT2_uc003zhb.3_Silent_p.F187F|DMRT2_uc011llt.1_Silent_p.F187F|DMRT2_uc011llu.1_Silent_p.F187F|DMRT2_uc011llv.1_Silent_p.F187F NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 187 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) AGAATAATTTCGAGCGCAAAG 0.448 7 237 --- --- --- --- PASS JAK2 3717 broad.mit.edu 37 9 5078317 5078317 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:5078317C>T uc010mhm.2 + 15 2117 c.2004C>T c.(2002-2004)ACC>ACT p.T668T JAK2_uc003ziw.2_Silent_p.T668T NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 668 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AAGAAAACACCCTTATTCATG 0.373 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 67 147 --- --- --- --- PASS RLN2 6019 broad.mit.edu 37 9 5300255 5300255 + Missense_Mutation SNP C T T rs61738986 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:5300255C>T uc003zja.1 - 2 401 c.401G>A c.(400-402)CGC>CAC p.R134H RLN2_uc003ziz.1_3'UTR NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 134 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) TTGTCTATTGCGAATAAGTTT 0.393 78 118 --- --- --- --- PASS KDM4C 23081 broad.mit.edu 37 9 6984351 6984351 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:6984351C>T uc003zkh.2 + 10 1881 c.1301C>T c.(1300-1302)TCT>TTT p.S434F KDM4C_uc010mhu.2_Missense_Mutation_p.S456F|KDM4C_uc011lmi.1_Missense_Mutation_p.S434F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.S434F|KDM4C_uc011lmk.1_Missense_Mutation_p.S253F|KDM4C_uc011lml.1_Missense_Mutation_p.S121F NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 434 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 GAAGAGTCATCTGCTAGCAGG 0.448 131 105 --- --- --- --- PASS IFNA6 3443 broad.mit.edu 37 9 21350654 21350654 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:21350654G>A uc011lni.1 - 1 233 c.233C>T c.(232-234)TCT>TTT p.S78F NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 78 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATGGAGGACAGAGATGGCTTC 0.473 103 182 --- --- --- --- PASS TEK 7010 broad.mit.edu 37 9 27229209 27229209 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:27229209T>C uc003zqi.3 + 23 3796 c.3354T>C c.(3352-3354)TGT>TGC p.C1118C TEK_uc011lno.1_Silent_p.C1075C|TEK_uc011lnp.1_Silent_p.C970C NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1118 Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GAATTGACTGTTCTGCTGAAG 0.458 12 318 --- --- --- --- PASS FBXO10 26267 broad.mit.edu 37 9 37516034 37516034 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:37516034G>A uc004aab.2 - 10 2612 c.2563C>T c.(2563-2565)CGG>TGG p.R855W FBXO10_uc004aac.2_Missense_Mutation_p.R871W|FBXO10_uc004aad.2_Missense_Mutation_p.R405W NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 855 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) GCACGGCCCCGCACGGCGATG 0.478 21 166 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37731012 37731012 + Missense_Mutation SNP G T T rs148192224 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:37731012G>T uc004aag.1 + 9 814 c.770G>T c.(769-771)CGC>CTC p.R257L FRMPD1_uc004aah.1_Missense_Mutation_p.R257L|FRMPD1_uc011lqm.1_Missense_Mutation_p.R79L|FRMPD1_uc011lqn.1_Missense_Mutation_p.R126L NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 257 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CATGACTACCGCTGCCTCTTC 0.512 51 89 --- --- --- --- PASS SMC5 23137 broad.mit.edu 37 9 72962528 72962528 + Splice_Site SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:72962528G>C uc004ahr.2 + 21 2782 c.2665_splice c.e21-1 p.I889_splice SMC5_uc011lry.1_Splice_Site_p.I34_splice NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 TCCCCTGCCAGATTGTTCAGG 0.289 23 7 --- --- --- --- PASS RORB 6096 broad.mit.edu 37 9 77257578 77257578 + Nonsense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:77257578C>T uc004aji.2 + 4 566 c.517C>T c.(517-519)CAG>TAG p.Q173* RORB_uc004ajh.2_Nonsense_Mutation_p.Q162* NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 173 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CGATTCCGGTCAGCCGTCCCC 0.507 15 74 --- --- --- --- PASS RORB 6096 broad.mit.edu 37 9 77286791 77286791 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:77286791C>T uc004aji.2 + 9 1280 c.1231C>T c.(1231-1233)CAC>TAC p.H411Y RORB_uc004ajh.2_Missense_Mutation_p.H400Y NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 411 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TCAGAAGAATCACCTGGATGA 0.428 20 32 --- --- --- --- PASS PCSK5 5125 broad.mit.edu 37 9 78722196 78722196 + Silent SNP G A A rs41310061 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:78722196G>A uc004ajz.2 + 9 1675 c.1137G>A c.(1135-1137)ACG>ACA p.T379T PCSK5_uc004ajy.2_Silent_p.T379T|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 379 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 AGCGTTGCACGGACAACCACA 0.483 6 53 --- --- --- --- PASS TRIM32 22954 broad.mit.edu 37 9 119461837 119461837 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:119461837G>T uc004bjx.2 + 2 1974 c.1816G>T c.(1816-1818)GGG>TGG p.G606W ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.G606W NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 606 NHL 5. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 TCCTAAGGGTGGGGGCTATAG 0.527 Bardet-Biedl_syndrome 6 148 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125486622 125486622 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:125486622T>C uc004bmu.1 + 1 354 c.354T>C c.(352-354)TCT>TCC p.S118S NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCTGGCCTCTATGGCCATCG 0.478 40 139 --- --- --- --- PASS STRBP 55342 broad.mit.edu 37 9 125941312 125941312 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:125941312T>C uc004bns.2 - 4 628 c.198A>G c.(196-198)AAA>AAG p.K66K STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Silent_p.K52K|STRBP_uc004bnv.2_Silent_p.K66K NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 66 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 CGGCCTCATCTTTCTTCACTT 0.443 39 222 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126414402 126414402 + Nonsense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:126414402T>A uc004bnz.1 - 9 741 c.508A>T c.(508-510)AGA>TGA p.R170* DENND1A_uc011lzl.1_5'UTR|DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Nonsense_Mutation_p.R138*|DENND1A_uc004boa.1_Nonsense_Mutation_p.R170*|DENND1A_uc004bob.1_Nonsense_Mutation_p.R140*|DENND1A_uc004boc.2_Nonsense_Mutation_p.R138* NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 170 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 GTCAGATTTCTCTAGGAGAAA 0.368 16 25 --- --- --- --- PASS GAPVD1 26130 broad.mit.edu 37 9 128122903 128122903 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:128122903A>G uc010mwx.2 + 27 4521 c.4195A>G c.(4195-4197)AGA>GGA p.R1399G GAPVD1_uc004bpp.2_Missense_Mutation_p.R1408G|GAPVD1_uc004bpq.2_Missense_Mutation_p.R1381G|GAPVD1_uc004bpr.2_Missense_Mutation_p.R1360G|GAPVD1_uc004bps.2_Missense_Mutation_p.R1354G|GAPVD1_uc004bpt.2_Missense_Mutation_p.R414G NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1399 VPS9. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GTGCATCCTGAGAATGTGCTC 0.468 153 48 --- --- --- --- PASS ABL1 25 broad.mit.edu 37 9 133760617 133760617 + Silent SNP C A A rs11558834 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:133760617C>A uc004bzw.2 + 11 2943 c.2940C>A c.(2938-2940)CCC>CCA p.P980P ABL1_uc004bzv.2_Silent_p.P999P NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 980 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCCAGCCCCCGTTCCCTCCA 0.662 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 4 194 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135202917 135202917 + Silent SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:135202917G>C uc004cbk.2 - 10 4251 c.4068C>G c.(4066-4068)CCC>CCG p.P1356P SETX_uc004cbj.2_Silent_p.P975P|SETX_uc010mzt.2_Silent_p.P975P NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1356 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTTGTGATTTGGGTCTGATCT 0.358 23 115 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139902942 139902942 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:139902942G>A uc011mem.1 - 47 7346 c.7198C>T c.(7198-7200)CGG>TGG p.R2400W ABCA2_uc011mel.1_Missense_Mutation_p.R2401W|ABCA2_uc004ckl.1_Missense_Mutation_p.R2331W|ABCA2_uc004ckm.1_Missense_Mutation_p.R2431W NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 2400 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACAAGTGCCCGGAGCTCCGTG 0.687 21 7 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139911420 139911420 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr9:139911420C>A uc011mem.1 - 18 2855 c.2707G>T c.(2707-2709)GCC>TCC p.A903S ABCA2_uc011mel.1_Missense_Mutation_p.A904S|ABCA2_uc004ckl.1_Missense_Mutation_p.A834S|ABCA2_uc004ckm.1_Missense_Mutation_p.A934S|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 903 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TAGACCACGGCGTCCACCATC 0.657 128 50 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1284216 1284216 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:1284216T>C uc009xhq.2 - 5 1713 c.1339A>G c.(1339-1341)ACG>GCG p.T447A NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 447 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCCAGCTGCGTGTAGAGGAAG 0.701 17 29 --- --- --- --- PASS SEPHS1 22929 broad.mit.edu 37 10 13375904 13375904 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:13375904G>T uc001imk.2 - 5 832 c.473C>A c.(472-474)TCT>TAT p.S158Y SEPHS1_uc001imh.2_Missense_Mutation_p.S82Y|SEPHS1_uc010qbs.1_Missense_Mutation_p.S110Y|SEPHS1_uc001imi.2_Missense_Mutation_p.S158Y|SEPHS1_uc001imj.2_Missense_Mutation_p.S158Y|SEPHS1_uc010qbt.1_Missense_Mutation_p.S91Y|SEPHS1_uc009xje.2_Missense_Mutation_p.S158Y NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 158 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 GCCTGTTACAGATGTTCCTGC 0.423 19 120 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17147511 17147511 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:17147511C>A uc001ioo.2 - 11 1227 c.1175G>T c.(1174-1176)TGT>TTT p.C392F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 392 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGCTGCACACATCCATTTGG 0.433 31 92 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17363299 17363299 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:17363299C>A uc001ipd.2 - 8 775 c.775G>T c.(775-777)GCA>TCA p.A259S ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 259 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CCATAGGTTGCAATGTCCTCC 0.373 29 97 --- --- --- --- PASS DNAJC1 64215 broad.mit.edu 37 10 22171304 22171304 + Silent SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:22171304A>G uc001irc.2 - 8 1172 c.885T>C c.(883-885)TAT>TAC p.Y295Y DNAJC1_uc001ird.2_Silent_p.Y181Y NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 295 Cytoplasmic (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) AAGACTGAATATATGTAGTTT 0.303 20 90 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26534906 26534906 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:26534906G>A uc001isp.2 + 8 1400 c.897G>A c.(895-897)GTG>GTA p.V299V GAD2_uc001isq.2_Silent_p.V299V NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 299 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CAGACAGCGTGATTCTGATTA 0.383 7 69 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34573111 34573111 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:34573111G>A uc010qej.1 - 21 3137 c.3137C>T c.(3136-3138)TCC>TTC p.S1046F PARD3_uc010qek.1_Missense_Mutation_p.S1043F|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.S1030F|PARD3_uc010qen.1_Missense_Mutation_p.S1000F|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.S956F|PARD3_uc010qeq.1_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1046 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TGATGTAAAGGATTCCTGTAT 0.338 22 182 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43292046 43292046 + Nonsense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:43292046G>T uc001jaj.2 + 10 1712 c.1354G>T c.(1354-1356)GAA>TAA p.E452* NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 452 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TGAAATGTCTGAAGATGACGG 0.438 78 118 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50835813 50835813 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:50835813A>T uc001jhz.2 + 7 1246 c.1093A>T c.(1093-1095)AGG>TGG p.R365W CHAT_uc001jhv.1_Missense_Mutation_p.R247W|CHAT_uc001jhx.1_Missense_Mutation_p.R247W|CHAT_uc001jhy.1_Missense_Mutation_p.R247W|CHAT_uc001jia.2_Missense_Mutation_p.R247W|CHAT_uc010qgs.1_Missense_Mutation_p.R247W NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 365 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGCCGAGGCCAGGACGGTCCT 0.592 33 92 --- --- --- --- PASS NRBF2 29982 broad.mit.edu 37 10 64913362 64913362 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:64913362G>T uc001jmj.3 + 4 472 c.248G>T c.(247-249)AGA>ATA p.R83I NRBF2_uc010qip.1_Missense_Mutation_p.R73I NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 83 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) CGTGAAGAAAGATTGAAAGCC 0.493 22 68 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81373751 81373751 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:81373751A>G uc001kap.2 + 6 750 c.629A>G c.(628-630)AAC>AGC p.N210S SFTPA1_uc001kaq.2_Missense_Mutation_p.N210S|SFTPA1_uc009xry.2_Missense_Mutation_p.N225S|SFTPA1_uc001kar.2_Missense_Mutation_p.N210S|SFTPA1_uc010qlt.1_Missense_Mutation_p.N151S|SFTPA1_uc009xrz.2_Missense_Mutation_p.N140S|SFTPA1_uc009xsa.2_Missense_Mutation_p.N210S|SFTPA1_uc009xsf.2_RNA NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 210 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) AACTACACCAACTGGTACCGA 0.557 178 247 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85970803 85970803 + Missense_Mutation SNP C G G rs142742994 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:85970803C>G uc001kcv.2 + 13 1367 c.1367C>G c.(1366-1368)GCG>GGG p.A456G CDHR1_uc001kcw.2_Missense_Mutation_p.A456G|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 456 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 AGTTCCACAGCGGATGTTGTG 0.562 194 216 --- --- --- --- PASS CEP55 55165 broad.mit.edu 37 10 95276824 95276824 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:95276824A>G uc009xug.2 + 6 994 c.812A>G c.(811-813)GAA>GGA p.E271G CEP55_uc001kiq.3_Missense_Mutation_p.E271G NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 271 Potential. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) AAATATGAAGAAACCCAAAAA 0.363 59 70 --- --- --- --- PASS ZNF518A 9849 broad.mit.edu 37 10 97919144 97919144 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:97919144G>T uc001klp.2 + 6 3922 c.3065G>T c.(3064-3066)TGT>TTT p.C1022F ZNF518A_uc001klo.1_Missense_Mutation_p.C492F|ZNF518A_uc001klq.2_Missense_Mutation_p.C1022F|ZNF518A_uc001klr.2_Missense_Mutation_p.C1022F NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1022 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AACAATAATTGTCTTACACCT 0.433 20 45 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117093820 117093820 + Silent SNP C T T rs112084285 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:117093820C>T uc001lcg.2 + 19 3452 c.3066C>T c.(3064-3066)TGC>TGT p.C1022C ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1022 Laminin EGF-like 1.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATAGCACTTGCATCAATAATA 0.353 20 66 --- --- --- --- PASS C10orf96 374355 broad.mit.edu 37 10 118084897 118084897 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:118084897T>C uc001lck.2 + 3 413 c.162T>C c.(160-162)TCT>TCC p.S54S NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 54 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AGCTGGAATCTAAGGTATTGA 0.343 14 19 --- --- --- --- PASS C10orf96 374355 broad.mit.edu 37 10 118084900 118084900 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:118084900G>A uc001lck.2 + 3 416 c.165G>A c.(163-165)AAG>AAA p.K55K NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 55 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) TGGAATCTAAGGTATTGAAAT 0.348 13 17 --- --- --- --- PASS SLC18A2 6571 broad.mit.edu 37 10 119017365 119017365 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:119017365G>T uc001ldd.1 + 10 984 c.953G>T c.(952-954)TGG>TTG p.W318L SLC18A2_uc009xyy.1_Missense_Mutation_p.W115L NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 318 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CTGCCCATCTGGATGATGGAG 0.567 41 47 --- --- --- --- PASS FAM45A 404636 broad.mit.edu 37 10 120867505 120867505 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:120867505G>T uc001ldw.2 + 2 125 c.81G>T c.(79-81)CTG>CTT p.L27L FAM45A_uc010qsv.1_Silent_p.L19L|FAM45A_uc010qsw.1_5'UTR|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_5'UTR NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 27 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) GAGAAGTTCTGTGGGTGTGGT 0.438 74 198 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440183 135440183 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr10:135440183G>T uc010qvg.1 - 1 117 c.64C>A c.(64-66)CCC>ACC p.P22T NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 22 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGGAAAGGGGGCTGGTCAGTG 0.502 29 485 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5345319 5345319 + Missense_Mutation SNP A C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:5345319A>C uc001mao.1 - 1 264 c.209T>G c.(208-210)ATG>AGG p.M70R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATGTCACCATGAGGTCTGT 0.507 30 87 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862213 5862213 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:5862213C>T uc010qzq.1 - 1 915 c.915G>A c.(913-915)CTG>CTA p.L305L TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAAATCCTCAGCACTGTCT 0.443 11 89 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8947122 8947122 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:8947122T>C uc001mhb.3 - 5 1216 c.1092A>G c.(1090-1092)GCA>GCG p.A364A C11orf16_uc001mhc.3_Silent_p.A364A NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 364 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CTGTGTTGACTGCACTGTTCA 0.552 19 81 --- --- --- --- PASS MRVI1 10335 broad.mit.edu 37 11 10602078 10602078 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:10602078C>A uc010rcc.1 - 20 2805 c.2419G>T c.(2419-2421)GAA>TAA p.E807* uc001miu.2_Intron|MRVI1_uc001miw.2_Nonsense_Mutation_p.E798*|MRVI1_uc010rcb.1_Nonsense_Mutation_p.E799*|MRVI1_uc009ygb.1_Nonsense_Mutation_p.E492*|MRVI1_uc001mix.2_Nonsense_Mutation_p.E492*|MRVI1_uc001miz.2_Nonsense_Mutation_p.E716*|MRVI1_uc009ygc.1_Nonsense_Mutation_p.E716*|MRVI1_uc010rcd.1_Nonsense_Mutation_p.E601*|MRVI1_uc009ygd.1_Nonsense_Mutation_p.E492* NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 780 Glu-rich. platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTCTTCTGTTCTTCCTCCTCC 0.493 5 255 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18195697 18195697 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:18195697G>A uc001mnv.1 + 1 1314 c.894G>A c.(892-894)AAG>AAA p.K298K NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 298 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TGCAGGACAAGCCTGAGGTGG 0.557 28 98 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18955915 18955915 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:18955915T>C uc001mpg.2 - 1 635 c.417A>G c.(415-417)TCA>TCG p.S139S NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 139 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 ACACCACCGCTGACAGGTGTG 0.617 26 89 --- --- --- --- PASS SLC5A12 159963 broad.mit.edu 37 11 26730881 26730881 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:26730881A>G uc001mra.2 - 4 816 c.503T>C c.(502-504)GTT>GCT p.V168A SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V168A NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 168 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 GAATGTGCAAACAATTCCTGT 0.378 13 27 --- --- --- --- PASS QSER1 79832 broad.mit.edu 37 11 32954413 32954413 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:32954413G>C uc001mty.2 + 4 1489 c.1222G>C c.(1222-1224)GAG>CAG p.E408Q QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 408 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) AGTTACAAATGAGAATTACCC 0.393 18 131 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49204779 49204779 + Missense_Mutation SNP C A A rs116795343 byFrequency TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:49204779C>A uc001ngy.2 - 7 1103 c.842G>T c.(841-843)CGT>CTT p.R281L FOLH1_uc001ngz.2_Missense_Mutation_p.R281L|FOLH1_uc009yly.2_Missense_Mutation_p.R266L|FOLH1_uc009ylz.2_Missense_Mutation_p.R266L|FOLH1_uc009yma.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 281 NAALADase.|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) TGCAATTCCACGCCTATAAGC 0.348 14 63 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55658796 55658796 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:55658796C>A uc010rip.1 + 7 1139 c.1047C>A c.(1045-1047)GAC>GAA p.D349E SPRYD5_uc010riq.1_Missense_Mutation_p.D206E NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 349 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) ATATGGGGGACTCTTGGAATT 0.423 73 146 --- --- --- --- PASS SSRP1 6749 broad.mit.edu 37 11 57102589 57102589 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:57102589C>A uc001njt.2 - 2 274 c.7G>T c.(7-9)GAG>TAG p.E3* SSRP1_uc010rjq.1_Nonsense_Mutation_p.E3* NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 3 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TCCAGTGTCTCTGCCATGTCG 0.567 412 487 --- --- --- --- PASS ZP1 22917 broad.mit.edu 37 11 60635139 60635139 + Silent SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:60635139A>T uc001nqd.2 + 1 125 c.105A>T c.(103-105)CCA>CCT p.P35P ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 35 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 CTGGCCTCCCAGGCCTCCGGC 0.662 19 58 --- --- --- --- PASS SCGB2A2 4250 broad.mit.edu 37 11 62038457 62038457 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:62038457G>A uc001ntc.2 + 2 219 c.160G>A c.(160-162)GCC>ACC p.A54T SCGB2A2_uc009ynx.2_Missense_Mutation_p.A54T NM_002411 NP_002402 Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 precursor 54 extracellular region steroid binding ovary(1) 1 AGACGACAATGCCACTACAAA 0.373 103 127 --- --- --- --- PASS SCGB2A2 4250 broad.mit.edu 37 11 62038458 62038458 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:62038458C>T uc001ntc.2 + 2 220 c.161C>T c.(160-162)GCC>GTC p.A54V SCGB2A2_uc009ynx.2_Missense_Mutation_p.A54V NM_002411 NP_002402 Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 precursor 54 extracellular region steroid binding ovary(1) 1 GACGACAATGCCACTACAAAT 0.378 103 127 --- --- --- --- PASS ESRRA 2101 broad.mit.edu 37 11 64074792 64074792 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:64074792C>G uc001nzq.1 + 2 318 c.141C>G c.(139-141)CTC>CTG p.L47L ESRRA_uc001nzr.1_Silent_p.L47L|ESRRA_uc001nzs.1_Silent_p.L47L NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 47 Repressor domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 CTCGCTGCCTCCCAGGCCACA 0.697 13 77 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76372428 76372428 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:76372428C>T uc001oxq.3 - 3 452 c.209G>A c.(208-210)GGC>GAC p.G70D LRRC32_uc001oxr.3_Missense_Mutation_p.G70D|LRRC32_uc010rsf.1_Missense_Mutation_p.G70D NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 70 LRR 1.|Extracellular (Potential). integral to plasma membrane 0 TGTGTAGAAGCCCAGGGGTGA 0.622 24 143 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101833343 101833343 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:101833343A>G uc001pgm.2 + 6 1847 c.1577A>G c.(1576-1578)TAT>TGT p.Y526C KIAA1377_uc001pgn.2_Missense_Mutation_p.Y482C|KIAA1377_uc010run.1_Missense_Mutation_p.Y327C|KIAA1377_uc009yxa.1_Missense_Mutation_p.Y327C NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 526 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CAAGATGCCTATATACCTCAC 0.303 13 31 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102586136 102586136 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:102586136C>G uc001phe.2 - 7 1034 c.935G>C c.(934-936)AGA>ACA p.R312T MMP8_uc010rut.1_Missense_Mutation_p.R247T|MMP8_uc010ruu.1_Missense_Mutation_p.R289T NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 312 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) CATTTCGACTCTTTGTAGCTG 0.398 18 110 --- --- --- --- PASS NCAM1 4684 broad.mit.edu 37 11 113146071 113146071 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:113146071G>A uc001pnt.2 + 2 812 c.244G>A c.(244-246)GAC>AAC p.D82N NCAM1_uc001pns.2_3'UTR|uc010rwu.1_5'Flank P13591 NCAM1_HUMAN Homo sapiens cDNA FLJ30008 fis, clone 3NB692000029. 847 Cytoplasmic (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GGTCCCCAATGACGCCACACA 0.517 7 38 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117314643 117314643 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:117314643C>T uc001prh.1 - 21 4003 c.4001G>A c.(4000-4002)GGC>GAC p.G1334D NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1274 Extracellular (Potential).|Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTGCTGTTGCCCCGGCCGGC 0.607 17 100 --- --- --- --- PASS VPS11 55823 broad.mit.edu 37 11 118947642 118947642 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:118947642G>T uc010ryx.1 + 9 1316 c.1274G>T c.(1273-1275)CGC>CTC p.R425L VPS11_uc010ryy.1_Missense_Mutation_p.R271L NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 425 Clathrin. protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TACGTGATCCGCAAGTTTCTG 0.478 36 34 --- --- --- --- PASS RNF26 79102 broad.mit.edu 37 11 119206720 119206720 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:119206720G>C uc001pwh.2 + 1 1484 c.888G>C c.(886-888)CAG>CAC p.Q296H NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 296 zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GCAGTCTGCAGCTGGCGAGTT 0.642 52 63 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132398972 132398972 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:132398972C>T uc001qgs.2 - 3 559 c.509G>A c.(508-510)AGA>AAA p.R170K OPCML_uc001qgu.2_Missense_Mutation_p.R163K|OPCML_uc010sck.1_Missense_Mutation_p.R170K|OPCML_uc001qgt.2_Missense_Mutation_p.R170K|OPCML_uc010scl.1_Missense_Mutation_p.R129K NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 170 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGACAGGTGTCTCCATGTCAC 0.483 21 74 --- --- --- --- PASS SPATA19 219938 broad.mit.edu 37 11 133715280 133715280 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:133715280A>T uc001qgv.1 - 1 113 c.62T>A c.(61-63)CTA>CAA p.L21Q NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 precursor 21 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane 0 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) GGTTATTGGTAGGAAGGGAAG 0.458 47 77 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133790529 133790529 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:133790529G>T uc001qgx.3 - 18 3322 c.3091C>A c.(3091-3093)CCT>ACT p.P1031T NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1031 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTCCTGTAGGTGTCTGAGTC 0.677 33 188 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 248014 248014 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:248014G>C uc001qhw.1 + 1 582 c.576G>C c.(574-576)CAG>CAC p.Q192H IQSEC3_uc001qhu.1_Missense_Mutation_p.Q192H|IQSEC3_uc001qht.1_Missense_Mutation_p.Q277H|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 495 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCGCCAACCAGAACATATCCG 0.677 7 75 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 461444 461444 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:461444C>A uc001qif.1 - 9 1439 c.1076G>T c.(1075-1077)CGA>CTA p.R359L KDM5A_uc001qie.1_Missense_Mutation_p.R359L|KDM5A_uc010sdn.1_Missense_Mutation_p.R318L|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 359 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TGTATACTCTCGTACAGCTTG 0.363 T NUP98 AML 52 90 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2721167 2721167 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:2721167C>G uc009zdu.1 + 30 4189 c.3876C>G c.(3874-3876)GCC>GCG p.A1292A CACNA1C_uc009zdv.1_Silent_p.A1269A|CACNA1C_uc001qkb.2_Silent_p.A1272A|CACNA1C_uc001qkc.2_Silent_p.A1272A|CACNA1C_uc001qke.2_Silent_p.A1272A|CACNA1C_uc001qkf.2_Silent_p.A1272A|CACNA1C_uc001qjz.2_Silent_p.A1272A|CACNA1C_uc001qkd.2_Silent_p.A1272A|CACNA1C_uc001qkg.2_Silent_p.A1272A|CACNA1C_uc009zdw.1_Silent_p.A1272A|CACNA1C_uc001qkh.2_Silent_p.A1272A|CACNA1C_uc001qkl.2_Silent_p.A1292A|CACNA1C_uc001qkn.2_Silent_p.A1272A|CACNA1C_uc001qko.2_Silent_p.A1292A|CACNA1C_uc001qkp.2_Silent_p.A1272A|CACNA1C_uc001qkr.2_Silent_p.A1272A|CACNA1C_uc001qku.2_Silent_p.A1272A|CACNA1C_uc001qkq.2_Silent_p.A1272A|CACNA1C_uc001qks.2_Silent_p.A1272A|CACNA1C_uc001qkt.2_Silent_p.A1272A|CACNA1C_uc001qka.1_Silent_p.A807A|CACNA1C_uc001qki.1_Silent_p.A1008A|CACNA1C_uc001qkj.1_Silent_p.A1008A|CACNA1C_uc001qkk.1_Silent_p.A1008A|CACNA1C_uc001qkm.1_Silent_p.A1008A NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1292 Helical; Name=S2 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCTCATTGCCTTCAAACCCA 0.532 35 76 --- --- --- --- PASS FGF6 2251 broad.mit.edu 37 12 4553375 4553375 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:4553375C>T uc001qmr.1 - 2 418 c.374G>A c.(373-375)CGA>CAA p.R125Q NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 125 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CACCACGCCTCGCTCCACAGT 0.537 9 108 --- --- --- --- PASS CLEC12A 160364 broad.mit.edu 37 12 10132050 10132050 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:10132050G>T uc001qwr.3 + 3 494 c.306G>T c.(304-306)AAG>AAT p.K102N CLEC12A_uc001qwq.2_Missense_Mutation_p.K112N|CLEC12A_uc001qws.3_Missense_Mutation_p.K69N|CLEC12A_uc001qwt.2_Missense_Mutation_p.K31N NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 102 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 TCTCCAACAAGATCAGGAACC 0.353 15 35 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13717454 13717454 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:13717454C>G uc001rbt.2 - 13 2897 c.2718G>C c.(2716-2718)AAG>AAC p.K906N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 906 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGCCATGTTCTTGGCCGTGC 0.592 175 311 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13717533 13717533 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:13717533C>G uc001rbt.2 - 13 2818 c.2639G>C c.(2638-2640)CGC>CCC p.R880P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 880 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACAGACTGGCGCTCCTCGAT 0.537 120 237 --- --- --- --- PASS C12orf77 196415 broad.mit.edu 37 12 25149149 25149149 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:25149149G>T uc001rgf.2 - 2 333 c.128C>A c.(127-129)ACG>AAG p.T43K NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 43 0 GGATGTAAGCGTATAATTTGT 0.403 57 91 --- --- --- --- PASS C12orf41 54934 broad.mit.edu 37 12 49072821 49072821 + Silent SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:49072821T>A uc001rrx.2 - 4 618 c.543A>T c.(541-543)CTA>CTT p.L181L C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Silent_p.L364L|C12orf41_uc001rry.2_Intron NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 181 ovary(2) 2 CAACTTACTTTAGGGGATCTT 0.433 111 50 --- --- --- --- PASS RACGAP1 29127 broad.mit.edu 37 12 50388061 50388061 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:50388061C>G uc001rvt.2 - 14 1502 c.1192G>C c.(1192-1194)GAG>CAG p.E398Q RACGAP1_uc009zlm.1_Missense_Mutation_p.E398Q|RACGAP1_uc001rvs.2_Missense_Mutation_p.E398Q|RACGAP1_uc001rvu.2_Missense_Mutation_p.E398Q NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 398 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 AGGAATTTCTCTTTCAGCTCT 0.393 119 154 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53004486 53004486 + Missense_Mutation SNP C A A rs115844388 by1000genomes TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:53004486C>A uc001sas.2 - 7 1279 c.1244G>T c.(1243-1245)CGC>CTC p.R415L NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 415 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGGTACTCGCGCAGCATCCG 0.647 55 81 --- --- --- --- PASS KRT2 3849 broad.mit.edu 37 12 53045515 53045515 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:53045515G>T uc001sat.2 - 1 445 c.412C>A c.(412-414)CCT>ACT p.P138T NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 138 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) AAGCCACCAGGACCCCCTAAa 0.313 62 105 --- --- --- --- PASS HOXC6 3223 broad.mit.edu 37 12 54422463 54422463 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:54422463C>A uc001sev.2 + 1 270 c.158C>A c.(157-159)CCC>CAC p.P53H HOXC6_uc001ses.2_5'UTR|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 53 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 TACTCGACTCCCTTTTATTCG 0.532 28 188 --- --- --- --- PASS ANKRD52 283373 broad.mit.edu 37 12 56647572 56647572 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:56647572T>C uc001skm.3 - 9 1009 c.919A>G c.(919-921)AAA>GAA p.K307E NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 307 ANK 10. protein binding ovary(2) 2 AGAGGACTTTTCCCTTCTTTG 0.483 28 135 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 63954358 63954358 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:63954358T>C uc001srp.1 - 22 2392 c.2211A>G c.(2209-2211)GAA>GAG p.E737E DPY19L2_uc010sso.1_Silent_p.E184E NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 737 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GCCTGGCGTCTTCGAGCAGGA 0.453 58 74 --- --- --- --- PASS TBK1 29110 broad.mit.edu 37 12 64879294 64879294 + Splice_Site SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:64879294G>C uc001ssc.1 + 10 1310 c.1248_splice c.e10+1 p.K416_splice NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) CATGGCTAAGGTTAGTATTTA 0.303 2 10 --- --- --- --- PASS IRAK3 11213 broad.mit.edu 37 12 66605326 66605326 + Silent SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:66605326A>T uc001sth.2 + 5 639 c.537A>T c.(535-537)GTA>GTT p.V179V IRAK3_uc010ssy.1_Silent_p.V118V NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 179 ATP (By similarity).|Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) TTTTTGAGGTATACAGAGTGG 0.338 52 101 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78530995 78530995 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:78530995C>G uc001syp.2 + 19 4653 c.4480C>G c.(4480-4482)CCC>GCC p.P1494A NAV3_uc001syo.2_Missense_Mutation_p.P1494A|NAV3_uc010sub.1_Missense_Mutation_p.P980A|NAV3_uc009zsf.2_Missense_Mutation_p.P325A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1494 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CCTTCCCGGGCCCAGCATGAT 0.468 HNSCC(70;0.22) 65 94 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81777926 81777926 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:81777926A>G uc001szo.1 - 9 1021 c.860T>C c.(859-861)ATG>ACG p.M287T PPFIA2_uc010sue.1_Missense_Mutation_p.M187T|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 213 ovary(3)|lung(2)|pancreas(1) 6 ACGTTCTTTCATCTGGGCCAT 0.418 12 48 --- --- --- --- PASS NR2C1 7181 broad.mit.edu 37 12 95416028 95416028 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:95416028G>C uc001tdm.3 - 14 2045 c.1789C>G c.(1789-1791)CAA>GAA p.Q597E NM_003297 NP_003288 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 597 Required for interaction with NRIP1 (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 CCAATTATTTGAGAGTTATAA 0.368 34 210 --- --- --- --- PASS ALDH1L2 160428 broad.mit.edu 37 12 105451930 105451930 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:105451930G>T uc001tlc.2 - 10 1335 c.1208C>A c.(1207-1209)ACC>AAC p.T403N ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 403 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 TTCAAACTTGGTGGCCATATA 0.428 97 174 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617130 119617130 + Nonsense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:119617130C>T uc001txb.2 + 1 536 c.13C>T c.(13-15)CAG>TAG p.Q5* HSPB8_uc001txc.2_Nonsense_Mutation_p.Q5* NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 5 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTGACGGTCAGATGCCCTT 0.388 47 326 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617283 119617283 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:119617283C>T uc001txb.2 + 1 689 c.166C>T c.(166-168)CTC>TTC p.L56F HSPB8_uc001txc.2_Missense_Mutation_p.L56F NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 56 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGCCTCGTCTCTCCTCCGC 0.692 79 381 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617290 119617290 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:119617290C>T uc001txb.2 + 1 696 c.173C>T c.(172-174)TCC>TTC p.S58F HSPB8_uc001txc.2_Missense_Mutation_p.S58F NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 58 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGTCTCTCCTCCGCCTGGCCA 0.692 70 347 --- --- --- --- PASS HNF1A 6927 broad.mit.edu 37 12 121432067 121432067 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:121432067C>A uc001tzg.2 + 4 837 c.814C>A c.(814-816)CGC>AGC p.R272S HNF1A_uc001tze.1_Missense_Mutation_p.R272S|HNF1A_uc001tzf.2_Missense_Mutation_p.R272S|HNF1A_uc010szn.1_Missense_Mutation_p.R272S NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 272 Homeobox; HNF1-type.|Interaction with DNA. R -> C (in NIDDM).|R -> H (in IDDM20 and MODY3). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.K273fs*41(1)|p.R272H(1)|p.R272S(1) liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCCAACCGGCGCAAAGAAGA 0.672 Hepatic_Adenoma_Familial_Clustering_of 14 25 --- --- --- --- PASS ZCCHC8 55596 broad.mit.edu 37 12 122958565 122958565 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:122958565C>T uc001ucn.2 - 14 1734 c.1603G>A c.(1603-1605)GAG>AAG p.E535K ZCCHC8_uc001ucl.2_Missense_Mutation_p.E146K|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E297K|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E297K|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E297K NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 535 Potential. catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTTACGCTCTCGGCCTGCTCA 0.547 166 295 --- --- --- --- PASS SBNO1 55206 broad.mit.edu 37 12 123800192 123800192 + Nonsense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:123800192G>C uc010tap.1 - 21 2951 c.2951C>G c.(2950-2952)TCA>TGA p.S984* SBNO1_uc010tao.1_Nonsense_Mutation_p.S983*|SBNO1_uc010taq.1_Translation_Start_Site|SBNO1_uc001ues.1_5'Flank NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 984 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AACTTGGTTTGATCTATGAGT 0.373 31 147 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 130015694 130015694 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:130015694A>G uc009zyl.1 - 3 1353 c.1025T>C c.(1024-1026)ATT>ACT p.I342T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 342 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GACATCCCAAATGGAAGGGCT 0.532 33 84 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130929768 130929768 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr12:130929768G>T uc001uil.2 - 7 741 c.577C>A c.(577-579)CCC>ACC p.P193T RIMBP2_uc001uim.2_Missense_Mutation_p.P101T|RIMBP2_uc001uin.1_5'Flank NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 193 SH3 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCCGTGAGGGGCAGCTCAGCT 0.547 91 133 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23929364 23929364 + Missense_Mutation SNP G A A rs149951538 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:23929364G>A uc001uon.2 - 8 1976 c.1387C>T c.(1387-1389)CAC>TAC p.H463Y SACS_uc001uoo.2_Missense_Mutation_p.H316Y|SACS_uc001uop.1_Missense_Mutation_p.H250Y|SACS_uc001uoq.1_Missense_Mutation_p.H316Y NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 463 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCACTGATGTGAACTGGGAGG 0.483 61 26 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23929365 23929365 + Silent SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:23929365A>T uc001uon.2 - 8 1975 c.1386T>A c.(1384-1386)GTT>GTA p.V462V SACS_uc001uoo.2_Silent_p.V315V|SACS_uc001uop.1_Silent_p.V249V|SACS_uc001uoq.1_Silent_p.V315V NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 462 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CACTGATGTGAACTGGGAGGC 0.488 60 25 --- --- --- --- PASS MTIF3 219402 broad.mit.edu 37 13 28011400 28011400 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:28011400C>G uc001urh.2 - 2 1695 c.471G>C c.(469-471)CTG>CTC p.L157L MTIF3_uc001uri.2_Silent_p.L157L|MTIF3_uc001urj.2_Silent_p.L157L|MTIF3_uc001urk.2_Silent_p.L157L NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 157 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity ovary(1)|skin(1) 2 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) GTTCCTTTCTCAGGGTTGGTC 0.413 8 58 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28623591 28623591 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:28623591T>C uc001urw.2 - 8 1048 c.966A>G c.(964-966)AGA>AGG p.R322R FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R322R NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 322 Extracellular (Potential).|Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CGGTGTCGTTTCTTGCCACTG 0.398 Mis|O AML|ALL 30 295 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42876298 42876298 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:42876298C>G uc001uys.1 + 8 3591 c.3416C>G c.(3415-3417)TCT>TGT p.S1139C NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1139 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ACACCACCTTCTACTCCACAC 0.398 24 183 --- --- --- --- PASS CPB2 1361 broad.mit.edu 37 13 46632487 46632487 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:46632487C>T uc001vaw.2 - 9 893 c.826G>A c.(826-828)GAA>AAA p.E276K uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.E239K NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 276 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) CAGTAGGTTTCCGAGCATGAG 0.418 174 97 --- --- --- --- PASS FBXL3 26224 broad.mit.edu 37 13 77589613 77589613 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:77589613G>A uc001vkd.2 - 4 945 c.574C>T c.(574-576)CTA>TTA p.L192L NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 192 LRR 2. regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTGGCCACTAGTACTTTGAGA 0.408 29 160 --- --- --- --- PASS SLITRK6 84189 broad.mit.edu 37 13 86369028 86369028 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:86369028G>T uc001vll.1 - 2 2075 c.1616C>A c.(1615-1617)ACA>AAA p.T539K SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 539 LRRCT 2.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATCTGTCACTGTGTTCTTGCT 0.453 99 39 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92345699 92345699 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:92345699G>T uc010tif.1 + 3 950 c.584G>T c.(583-585)CGG>CTG p.R195L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 195 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) GAATGCATCCGGATGGCTCGC 0.493 26 150 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92797143 92797143 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:92797143G>A uc010tif.1 + 7 1828 c.1462G>A c.(1462-1464)GGA>AGA p.G488R NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 488 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) GGGCAGTGGTGGAGGCATGGT 0.463 25 159 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109772789 109772789 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:109772789G>T uc001vqt.1 + 29 3570 c.3444G>T c.(3442-3444)CAG>CAT p.Q1148H MYO16_uc010agk.1_Missense_Mutation_p.Q1170H|MYO16_uc010tjh.1_Missense_Mutation_p.Q660H NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1148 IQ. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TACAGTTGCAGAGAAAAATTA 0.353 19 80 --- --- --- --- PASS PROZ 8858 broad.mit.edu 37 13 113826141 113826141 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr13:113826141G>A uc001vta.1 + 8 932 c.925G>A c.(925-927)GAC>AAC p.D309N PROZ_uc010agr.1_Missense_Mutation_p.D331N NM_003891 NP_003882 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma 309 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) CAATGGCACTGACCTGGGCAA 0.647 9 89 --- --- --- --- PASS EFS 10278 broad.mit.edu 37 14 23826697 23826697 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:23826697T>C uc001wjo.2 - 6 2032 c.1424A>G c.(1423-1425)AAG>AGG p.K475R EFS_uc001wjp.2_Missense_Mutation_p.K382R|EFS_uc010tnm.1_Missense_Mutation_p.K306R NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 475 Divergent helix-loop-helix motif. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CACCACCCTCTTGCTGTGGGG 0.652 59 80 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35234367 35234367 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:35234367C>G uc001wsk.2 - 22 3977 c.3409G>C c.(3409-3411)GAT>CAT p.D1137H BAZ1A_uc001wsl.2_Missense_Mutation_p.D1105H NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1137 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) ACGCTACGATCCAAGGTGGAT 0.438 56 105 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44973932 44973932 + Silent SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:44973932T>A uc001wvn.2 - 1 2568 c.2259A>T c.(2257-2259)GTA>GTT p.V753V NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 753 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ACACATTCTCTACCAGAGCCT 0.463 153 148 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47343269 47343269 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:47343269C>A uc001wwj.3 - 13 2561 c.2365G>T c.(2365-2367)GAC>TAC p.D789Y MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.D560Y|MDGA2_uc010ani.2_Missense_Mutation_p.D349Y NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 789 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCACTACGGTCAGCATTAGGT 0.338 37 130 --- --- --- --- PASS EXOC5 10640 broad.mit.edu 37 14 57675449 57675449 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:57675449C>A uc001xct.2 - 18 2256 c.2005G>T c.(2005-2007)GAT>TAT p.D669Y EXOC5_uc001xcs.2_Missense_Mutation_p.D348Y|EXOC5_uc010trg.1_Missense_Mutation_p.D614Y|EXOC5_uc010trh.1_Missense_Mutation_p.D604Y NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 669 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 TTTAAATTATCTGGGGCAACT 0.378 71 72 --- --- --- --- PASS DACT1 51339 broad.mit.edu 37 14 59112477 59112477 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:59112477G>T uc001xdw.2 + 4 1300 c.1136G>T c.(1135-1137)AGA>ATA p.R379I DACT1_uc010trv.1_Missense_Mutation_p.R98I|DACT1_uc001xdx.2_Missense_Mutation_p.R342I|DACT1_uc010trw.1_Missense_Mutation_p.R98I NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 379 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GTTTGTGTCAGAGCCCCGGGC 0.542 88 105 --- --- --- --- PASS DAAM1 23002 broad.mit.edu 37 14 59822020 59822020 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:59822020A>G uc001xdz.1 + 21 2649 c.2524A>G c.(2524-2526)AAA>GAA p.K842E DAAM1_uc001xea.1_Missense_Mutation_p.K832E|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 842 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TAGCCTAAACAAAATTGCTGA 0.433 27 165 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69558590 69558590 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:69558590T>C uc001xkp.2 - 6 899 c.680A>G c.(679-681)TAT>TGT p.Y227C DCAF5_uc001xkq.2_Missense_Mutation_p.Y226C|DCAF5_uc001xkr.3_Missense_Mutation_p.Y227C NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 227 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 GTTTCCACCATAGCGCAGGAG 0.537 29 26 --- --- --- --- PASS TTLL5 23093 broad.mit.edu 37 14 76330119 76330119 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:76330119T>C uc001xrx.2 + 29 3641 c.3436T>C c.(3436-3438)TAT>CAT p.Y1146H TTLL5_uc010ask.1_Missense_Mutation_p.Y1161H|TTLL5_uc001xrz.2_Missense_Mutation_p.Y721H|TTLL5_uc001xsa.2_Missense_Mutation_p.Y220H NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1146 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) AGCAGGCAGCTATCAGCTTCA 0.537 7 256 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76964656 76964656 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:76964656C>T uc001xsq.1 + 7 1224 c.1157C>T c.(1156-1158)CCC>CTC p.P386L ESRRB_uc001xsr.2_Missense_Mutation_p.P386L|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 386 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) CATGAGGAGCCCTGGAGGACG 0.617 32 32 --- --- --- --- PASS VIPAR 63894 broad.mit.edu 37 14 77919736 77919736 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:77919736C>T uc001xtt.1 - 4 440 c.102G>A c.(100-102)GAG>GAA p.E34E VIPAR_uc001xtu.1_Silent_p.E34E|VIPAR_uc010tvj.1_Silent_p.E34E|VIPAR_uc001xtv.1_Silent_p.E34E NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN hypothetical protein LOC63894 34 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding central_nervous_system(1) 1 CCCGCTTGGACTCCTTTAACT 0.537 89 595 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 80164196 80164196 + Silent SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:80164196A>G uc001xun.2 + 15 3212 c.2721A>G c.(2719-2721)CCA>CCG p.P907P NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.P275P|NRXN3_uc010asw.2_Silent_p.P305P|NRXN3_uc001xur.3_Silent_p.P275P NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1280 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCATGCCACCAGAAATGTCTA 0.468 58 118 --- --- --- --- PASS C14orf145 145508 broad.mit.edu 37 14 81259310 81259310 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:81259310C>A uc001xux.2 - 13 1525 c.1354G>T c.(1354-1356)GAG>TAG p.E452* C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 452 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) GTTGCATCCTCCGCATGGCGA 0.537 94 119 --- --- --- --- PASS STON2 85439 broad.mit.edu 37 14 81743488 81743488 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:81743488C>A uc010tvu.1 - 4 2368 c.2167G>T c.(2167-2169)GTT>TTT p.V723F STON2_uc001xvk.1_Missense_Mutation_p.V723F|STON2_uc010tvt.1_Missense_Mutation_p.V520F NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 723 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TCACAGGGAACCTGAGTGAGG 0.552 23 335 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088740 86088740 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:86088740G>T uc001xvr.2 + 2 1649 c.882G>T c.(880-882)GGG>GGT p.G294G FLRT2_uc010atd.2_Silent_p.G294G NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 294 Extracellular (Potential).|LRR 10. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGACTCAAGGGGTTTTTGATA 0.443 75 669 --- --- --- --- PASS GPR65 8477 broad.mit.edu 37 14 88477620 88477620 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:88477620C>A uc001xvv.2 + 2 959 c.429C>A c.(427-429)ACC>ACA p.T143T NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 143 Helical; Name=4; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 TATTGGAAACCATCTTCAATG 0.383 6 538 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92471638 92471638 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:92471638T>C uc001xzy.2 - 11 3470 c.2682A>G c.(2680-2682)CTA>CTG p.L894L TRIP11_uc010auf.1_Silent_p.L630L NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 894 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CCTCAGATGCTAGTTCAGTAA 0.403 T PDGFRB AML 177 117 --- --- --- --- PASS PPP4R4 57718 broad.mit.edu 37 14 94731758 94731758 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:94731758C>G uc001ycs.1 + 21 2386 c.2232C>G c.(2230-2232)CCC>CCG p.P744P NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 744 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 AAAGTCTGCCCAAGAACATCC 0.353 28 222 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95786073 95786073 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:95786073G>T uc001yef.2 - 1 173 c.57C>A c.(55-57)AGC>AGA p.S19R NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 19 Actin-binding.|CH 1. integral to membrane actin binding 0 Epithelial(152;0.193) CTCGGATGTCGCTAATCTGCC 0.632 8 92 --- --- --- --- PASS MIR493 574450 broad.mit.edu 37 14 101335467 101335467 + RNA SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:101335467G>T hsa-mir-493|MI0003132 + c.71G>T 0 ggtctactgtgtgccaggccc 0.433 27 226 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104206296 104206296 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr14:104206296G>A uc001yof.1 - 12 2740 c.2457C>T c.(2455-2457)GAC>GAT p.D819D PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.D686D NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 819 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TGTTGTTATTGTCCTCTGCCG 0.602 9 138 --- --- --- --- PASS OTUD7A 161725 broad.mit.edu 37 15 31776859 31776859 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:31776859C>A uc001zfq.2 - 11 1512 c.1419G>T c.(1417-1419)TCG>TCT p.S473S OTUD7A_uc001zfr.2_Silent_p.S480S NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 473 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCGAGTCCAGCGAGTCGGCCA 0.527 3 16 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33954961 33954961 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:33954961C>A uc001zhi.2 + 35 5300 c.5230C>A c.(5230-5232)CGG>AGG p.R1744R RYR3_uc010bar.2_Silent_p.R1744R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1744 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGATGATGTTCGGCAGATCCT 0.552 4 170 --- --- --- --- PASS PDIA3 2923 broad.mit.edu 37 15 44062447 44062447 + Splice_Site SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:44062447G>T uc001zsu.2 + 11 1415 c.1267_splice c.e11-1 p.L423_splice PDIA3_uc010bdp.2_Splice_Site_p.L403_splice|PDIA3_uc010ued.1_Splice_Site_p.L197_splice NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TTTATTAACAGCTCAGCAAAG 0.368 12 94 --- --- --- --- PASS PDIA3 2923 broad.mit.edu 37 15 44062448 44062448 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:44062448C>A uc001zsu.2 + 11 1415 c.1267C>A c.(1267-1269)CTC>ATC p.L423I PDIA3_uc010bdp.2_Missense_Mutation_p.L403I|PDIA3_uc010ued.1_Missense_Mutation_p.L197I NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 423 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TTATTAACAGCTCAGCAAAGA 0.373 13 98 --- --- --- --- PASS ELL3 80237 broad.mit.edu 37 15 44066938 44066938 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:44066938C>A uc001zsw.1 - 7 1082 c.679G>T c.(679-681)GAA>TAA p.E227* ELL3_uc001zsv.1_Nonsense_Mutation_p.E181*|ELL3_uc001zsx.1_Nonsense_Mutation_p.E112*|uc001zsy.2_5'Flank NM_025165 NP_079441 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 227 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex ovary(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CTCTTTTCTTCCAGTTCTACA 0.443 35 153 --- --- --- --- PASS TRIM69 140691 broad.mit.edu 37 15 45059595 45059595 + Silent SNP A T T rs141242641 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:45059595A>T uc001zuf.2 + 8 2023 c.1128A>T c.(1126-1128)GGA>GGT p.G376G TRIM69_uc001zui.1_Silent_p.G172G|TRIM69_uc010bdy.1_Silent_p.G155G|TRIM69_uc001zug.1_Silent_p.G376G|TRIM69_uc001zuh.1_Silent_p.G217G NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 376 B30.2/SPRY. apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) TCACCTCTGGAAAGTGGTACT 0.483 81 166 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45387146 45387146 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:45387146C>A uc010bea.2 - 32 4586 c.4383G>T c.(4381-4383)AGG>AGT p.R1461S DUOX2_uc001zun.2_Missense_Mutation_p.R1461S NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1461 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCATGGTGGTCCTGAGGTCGA 0.607 22 91 --- --- --- --- PASS MYEF2 50804 broad.mit.edu 37 15 48435118 48435118 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:48435118T>C uc001zwi.3 - 17 1914 c.1790A>G c.(1789-1791)GAT>GGT p.D597G MYEF2_uc001zwg.3_Missense_Mutation_p.D135G|MYEF2_uc001zwh.3_Missense_Mutation_p.D185G|MYEF2_uc001zwj.3_Missense_Mutation_p.D573G NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 597 RRM 3. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TGCATTACGATCCAAGCGAAC 0.363 43 115 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48577447 48577447 + Splice_Site SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:48577447G>A uc001zwn.3 + 21 2845 c.2629_splice c.e21+1 p.D877_splice SLC12A1_uc001zwq.3_Splice_Site_p.D648_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D604_splice NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCTAAAAAAGGTAAGAACTTT 0.368 14 85 --- --- --- --- PASS DYX1C1 161582 broad.mit.edu 37 15 55724695 55724695 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:55724695C>A uc002adc.2 - 9 1521 c.1153G>T c.(1153-1155)GGC>TGC p.G385C CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002add.2_Intron NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 385 TPR 3. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) AATTCCTTACCTTCTACATAC 0.348 9 103 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83350255 83350255 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:83350255C>T uc010uoh.1 - 5 615 c.438G>A c.(436-438)ATG>ATA p.M146I AP3B2_uc010uoi.1_Missense_Mutation_p.M146I|AP3B2_uc010uoj.1_Missense_Mutation_p.M114I|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 146 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) TAGCTAGCATCATGATGGGCA 0.567 32 249 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86076900 86076900 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:86076900T>A uc002blv.1 + 4 437 c.267T>A c.(265-267)TTT>TTA p.F89L AKAP13_uc002bls.2_Missense_Mutation_p.F89L|AKAP13_uc002blt.1_Missense_Mutation_p.F89L|AKAP13_uc002blu.1_Missense_Mutation_p.F89L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 89 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AAGAAGACTTTCATTTCGTCC 0.473 28 300 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86076901 86076901 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:86076901C>T uc002blv.1 + 4 438 c.268C>T c.(268-270)CAT>TAT p.H90Y AKAP13_uc002bls.2_Missense_Mutation_p.H90Y|AKAP13_uc002blt.1_Missense_Mutation_p.H90Y|AKAP13_uc002blu.1_Missense_Mutation_p.H90Y NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 90 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AGAAGACTTTCATTTCGTCCA 0.473 28 299 --- --- --- --- PASS MESP2 145873 broad.mit.edu 37 15 90319886 90319886 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:90319886G>T uc002bon.2 + 1 298 c.298G>T c.(298-300)GCC>TCC p.A100S MESP2_uc010uqa.1_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 100 Helix-loop-helix motif. Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GCTGGCCCGCGCCCTGCACGA 0.726 25 10 --- --- --- --- PASS NGRN 51335 broad.mit.edu 37 15 90814723 90814723 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:90814723G>T uc002bpf.1 + 3 629 c.579G>T c.(577-579)GTG>GTT p.V193V TTLL13_uc002bpe.1_RNA|NGRN_uc002bpg.1_Silent_p.V121V NM_001033088 NP_001028260 Q9NPE2 NGRN_HUMAN neugrin 193 neuron differentiation extracellular region|nucleus large_intestine(2)|ovary(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CTTTGAAAGTGATAGAGTCAG 0.488 6 482 --- --- --- --- PASS FAM169B 283777 broad.mit.edu 37 15 99023833 99023833 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:99023833C>G uc002buk.1 - 4 430 c.180G>C c.(178-180)ATG>ATC p.M60I NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 60 0 CCTCACCTTTCATCTTGGTTG 0.527 12 428 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100341319 100341319 + RNA SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:100341319C>T uc010urx.1 - 3 c.328G>A C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 TTTCCATTTGCCGCTCCAGCT 0.582 6 627 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101597168 101597168 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:101597168C>G uc002bwr.2 + 28 4759 c.4440C>G c.(4438-4440)ATC>ATG p.I1480M LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1480 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCAAGGGCATCCGCCCGGTTC 0.602 48 819 --- --- --- --- PASS TM2D3 80213 broad.mit.edu 37 15 102191910 102191910 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:102191910G>A uc002bxi.2 - 2 188 c.158C>T c.(157-159)CCC>CTC p.P53L TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Missense_Mutation_p.P53L NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 isoform a 53 integral to membrane ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCTGCCCTGGGAACTACTGT 0.398 41 850 --- --- --- --- PASS TM2D3 80213 broad.mit.edu 37 15 102191952 102191952 + Nonsense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:102191952G>C uc002bxi.2 - 2 146 c.116C>G c.(115-117)TCA>TGA p.S39* TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Nonsense_Mutation_p.S39* NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 isoform a 39 integral to membrane ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCCTTTATTGACTGAGCCAG 0.433 32 843 --- --- --- --- PASS TM2D3 80213 broad.mit.edu 37 15 102191970 102191970 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr15:102191970G>A uc002bxi.2 - 2 128 c.98C>T c.(97-99)TCG>TTG p.S33L TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Missense_Mutation_p.S33L NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 isoform a 33 integral to membrane ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGCGCCTGCGATTGCTCTAA 0.468 26 817 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2819118 2819118 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:2819118T>C uc002crk.2 + 12 8403 c.7854T>C c.(7852-7854)TCT>TCC p.S2618S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2618 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 cctcttcatcttcctcctcct 0.279 56 105 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3788606 3788606 + Missense_Mutation SNP A C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:3788606A>C uc002cvv.2 - 26 4552 c.4348T>G c.(4348-4350)TAC>GAC p.Y1450D CREBBP_uc002cvw.2_Missense_Mutation_p.Y1412D NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1450 Cys/His-rich. Y -> H (in RSTS1). cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.Y1450C(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATCTCATGGTAAACGGCTGTG 0.398 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 26 43 --- --- --- --- PASS TXNDC11 51061 broad.mit.edu 37 16 11785816 11785816 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:11785816T>C uc010buu.1 - 9 1373 c.1311A>G c.(1309-1311)GCA>GCG p.A437A TXNDC11_uc002dbg.1_Silent_p.A410A NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 437 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 CTGGCAGCTGTGCCGGCACTT 0.637 14 74 --- --- --- --- PASS UMOD 7369 broad.mit.edu 37 16 20359951 20359951 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:20359951G>T uc002dgz.2 - 3 801 c.672C>A c.(670-672)AAC>AAA p.N224K UMOD_uc002dha.2_Missense_Mutation_p.N224K|UMOD_uc002dhb.2_Missense_Mutation_p.N257K NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 224 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GGGCGGCCGTGTTGCAGCGCA 0.711 4 15 --- --- --- --- PASS RABEP2 79874 broad.mit.edu 37 16 28922461 28922461 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:28922461C>A uc002drq.2 - 6 982 c.934G>T c.(934-936)GAG>TAG p.E312* uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.E241*|RABEP2_uc010byn.2_Intron|RABEP2_uc002drr.2_Nonsense_Mutation_p.E312* NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 312 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 TCGTCCCGCTCGCGACTGACG 0.562 35 98 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31382415 31382415 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:31382415G>A uc002ebu.1 + 15 1788 c.1721G>A c.(1720-1722)GGC>GAC p.G574D ITGAX_uc002ebt.2_Missense_Mutation_p.G574D|ITGAX_uc010vfk.1_Missense_Mutation_p.G224D NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 574 FG-GAP 7.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGGATCGCGGGCTCCCAGCTC 0.582 63 329 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31405562 31405562 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:31405562G>C uc002ebv.1 + 2 86 c.37G>C c.(37-39)GCT>CCT p.A13P ITGAD_uc010vfl.1_Missense_Mutation_p.A13P|ITGAD_uc010cap.1_Missense_Mutation_p.A13P NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 13 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CTCAGTCCTGGCTTCTTATCA 0.502 26 88 --- --- --- --- PASS C16orf58 64755 broad.mit.edu 37 16 31502156 31502156 + Nonstop_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:31502156T>A uc002eci.1 - 13 1419 c.1407A>T c.(1405-1407)TGA>TGT p.*469C C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Nonstop_Mutation_p.*207C NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 469 integral to membrane ovary(1)|breast(1) 2 TCTGGGCTGCTCACAAGACCT 0.587 95 234 --- --- --- --- PASS IRX6 79190 broad.mit.edu 37 16 55361550 55361550 + Nonsense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:55361550G>T uc002ehy.2 + 4 999 c.466G>T c.(466-468)GAG>TAG p.E156* IRX6_uc002ehx.2_Nonsense_Mutation_p.E156*|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 156 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CGCGACCCGGGAGACCACCAG 0.562 38 69 --- --- --- --- PASS GPR114 221188 broad.mit.edu 37 16 57601428 57601428 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:57601428C>A uc002elx.3 + 8 831 c.746C>A c.(745-747)ACG>AAG p.T249K GPR114_uc010vhr.1_Missense_Mutation_p.T249K|GPR114_uc002ely.2_Missense_Mutation_p.T249K NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 249 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 GCACCTCTTACGTACATCTCC 0.607 73 88 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65022192 65022192 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:65022192T>C uc002eoi.2 - 7 1301 c.867A>G c.(865-867)AGA>AGG p.R289R CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.R289R|CDH11_uc010vin.1_Silent_p.R163R NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 289 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TAGCTTTCACTCTTCCTACTT 0.403 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 49 277 --- --- --- --- PASS FAM65A 79567 broad.mit.edu 37 16 67572954 67572954 + Nonsense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:67572954A>T uc010vjp.1 + 4 475 c.379A>T c.(379-381)AAG>TAG p.K127* FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Nonsense_Mutation_p.K107*|FAM65A_uc010cej.2_Nonsense_Mutation_p.K110*|FAM65A_uc002eti.1_Nonsense_Mutation_p.K70*|FAM65A_uc010vjq.1_Nonsense_Mutation_p.K121*|FAM65A_uc002etj.1_Nonsense_Mutation_p.K106*|FAM65A_uc002etk.2_Nonsense_Mutation_p.K106* NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 111 Potential. cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AAGGGAGTCCAAGAGGAATTC 0.587 43 148 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76592434 76592434 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr16:76592434G>C uc002feu.1 + 26 4166 c.3781G>C c.(3781-3783)GCT>CCT p.A1261P CNTNAP4_uc002fev.1_Missense_Mutation_p.A1125P|CNTNAP4_uc010chb.1_Missense_Mutation_p.A1188P|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1264P NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1261 Helical; (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CACTGCCATAGCTGTTCGCAT 0.368 35 48 --- --- --- --- PASS WDR81 124997 broad.mit.edu 37 17 1638985 1638985 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:1638985G>A uc002fti.2 + 8 1879 c.1618G>A c.(1618-1620)GTG>ATG p.V540M WDR81_uc002fth.2_Missense_Mutation_p.V716M|WDR81_uc010vqp.1_Missense_Mutation_p.V564M|WDR81_uc002ftj.2_Missense_Mutation_p.V1767M|WDR81_uc010vqq.1_Missense_Mutation_p.V398M NM_001163811 NP_001157283 Q562E7 WDR81_HUMAN WD repeat domain 81 isoform 4 540 skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTGCGCTTTGTGGACTGCAG 0.652 177 32 --- --- --- --- PASS AIPL1 23746 broad.mit.edu 37 17 6328914 6328914 + Nonsense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:6328914C>A uc002gcp.2 - 6 1116 c.1021G>T c.(1021-1023)GAG>TAG p.E341* AIPL1_uc002gcq.2_Nonsense_Mutation_p.E281*|AIPL1_uc002gcr.2_Nonsense_Mutation_p.E278*|AIPL1_uc010clk.2_Nonsense_Mutation_p.E319*|AIPL1_uc010cll.2_Nonsense_Mutation_p.E317*|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 341 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) gcgggtggctctgtgggtggc 0.264 273 85 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:7577570C>A uc002gim.2 - 7 905 c.711G>T c.(709-711)ATG>ATT p.M237I TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 237 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567 111 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) 102 45 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9846539 9846539 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:9846539G>T uc002gmg.1 - 7 791 c.630C>A c.(628-630)GAC>GAA p.D210E GAS7_uc010vvc.1_Missense_Mutation_p.D24E|GAS7_uc002gmh.1_Missense_Mutation_p.D70E|GAS7_uc010vvd.1_Missense_Mutation_p.D162E|GAS7_uc002gmi.2_Missense_Mutation_p.D146E|GAS7_uc002gmj.1_Missense_Mutation_p.D150E|GAS7_uc010coh.1_Missense_Mutation_p.D150E NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 210 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TGCCTTGGGGGTCCTTCTTAT 0.527 T MLL AML* 12 362 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10233743 10233743 + Missense_Mutation SNP T G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:10233743T>G uc002gmk.1 - 21 2486 c.2396A>C c.(2395-2397)TAC>TCC p.Y799S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 799 IQ. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CCGCATCAGGTACCCCCTGCA 0.547 40 10 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10408812 10408812 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:10408812C>T uc002gmo.2 - 20 2285 c.2191G>A c.(2191-2193)GCA>ACA p.A731T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 731 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ATAGCACTTGCATTTAACACC 0.423 12 116 --- --- --- --- PASS SMARCE1 6605 broad.mit.edu 37 17 38788534 38788534 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:38788534C>T uc002hux.2 - 8 751 c.627G>A c.(625-627)GAG>GAA p.E209E SMARCE1_uc010wff.1_Silent_p.E174E|SMARCE1_uc010wfg.1_Silent_p.E139E|SMARCE1_uc002huy.2_Silent_p.E174E|SMARCE1_uc010wfh.1_Silent_p.E139E|SMARCE1_uc010wfi.1_Silent_p.E191E NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 209 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) GCACCACACTCTCACTAAGAA 0.463 177 33 --- --- --- --- PASS KRTAP1-1 81851 broad.mit.edu 37 17 39197320 39197320 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:39197320T>C uc002hvw.1 - 1 394 c.330A>G c.(328-330)GGA>GGG p.G110G NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 110 Missing (in allele KAP1.7). extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGCTCACAGCTCCACTGCTGC 0.642 58 20 --- --- --- --- PASS KRTAP4-2 85291 broad.mit.edu 37 17 39334352 39334352 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:39334352C>T uc002hwd.2 - 1 109 c.65G>A c.(64-66)CGT>CAT p.R22H NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 22 2.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGACGGCAGCAGTT 0.627 49 315 --- --- --- --- PASS KRT34 3885 broad.mit.edu 37 17 39535405 39535405 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:39535405C>T uc002hwm.2 - 6 1038 c.1026G>A c.(1024-1026)CTG>CTA p.L342L NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 342 Rod.|Coil 2. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) CGCTCTCCGTCAGCGTGTTTT 0.562 140 27 --- --- --- --- PASS PLEKHH3 79990 broad.mit.edu 37 17 40826032 40826032 + Splice_Site SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:40826032C>T uc002iau.2 - 3 686 c.219_splice c.e3-1 p.R73_splice PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_Splice_Site|PLEKHH3_uc002iav.2_Splice_Site|PLEKHH3_uc010cym.1_Splice_Site|PLEKHH3_uc002iaw.2_Splice_Site_p.R73_splice NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GCTCTGCAGCCTGGGCCAGAG 0.657 51 43 --- --- --- --- PASS EZH1 2145 broad.mit.edu 37 17 40880863 40880863 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:40880863G>T uc002iaz.2 - 3 242 c.97C>A c.(97-99)CAG>AAG p.Q33K EZH1_uc002iba.2_Missense_Mutation_p.Q33K|EZH1_uc010wgt.1_Intron|EZH1_uc010wgu.1_Missense_Mutation_p.Q39K|EZH1_uc010wgv.1_Missense_Mutation_p.Q33K|EZH1_uc010wgw.1_5'UTR|EZH1_uc010cyp.2_5'UTR|EZH1_uc010cyq.2_Missense_Mutation_p.Q33K|EZH1_uc010cys.2_Missense_Mutation_p.Q33K NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 33 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) ATATTTGCCTGAAGCCGTTTA 0.348 166 48 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42477692 42477692 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:42477692T>C uc002igw.1 - 8 1817 c.1753A>G c.(1753-1755)AGA>GGA p.R585G GPATCH8_uc002igv.1_Missense_Mutation_p.R507G|GPATCH8_uc010wiz.1_Missense_Mutation_p.R507G NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 585 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCTTTAGTTCTGGCATCTTTG 0.403 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 179 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51900535 51900535 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:51900535G>T uc002iua.2 + 1 297 c.141G>T c.(139-141)ACG>ACT p.T47T NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 47 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTGTGGTCACGGAGATCAACA 0.527 149 61 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902274 51902274 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:51902274C>G uc002iua.2 + 1 2036 c.1880C>G c.(1879-1881)GCT>GGT p.A627G uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 627 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CAGGAGAGAGCTGGTGGAGTA 0.438 179 38 --- --- --- --- PASS YPEL2 388403 broad.mit.edu 37 17 57430779 57430779 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:57430779G>C uc002ixm.1 + 2 337 c.9G>C c.(7-9)AAG>AAC p.K3N YPEL2_uc002ixl.1_Missense_Mutation_p.K3N NM_001005404 NP_001005404 Q96QA6 YPEL2_HUMAN yippee-like 2 3 nucleolus 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CAATGGTGAAGATGACAAGAT 0.552 24 173 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 64179375 64179375 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:64179375C>A uc002jfl.2 - 2 262 c.43G>T c.(43-45)GCA>TCA p.A15S CCDC46_uc002jfm.2_Missense_Mutation_p.A15S|CCDC46_uc010dep.2_Missense_Mutation_p.A15S NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 15 centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TCAAATTCTGCATCCAGCTTC 0.264 106 39 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66979855 66979855 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:66979855C>A uc002jhu.2 - 36 4778 c.4635G>T c.(4633-4635)CAG>CAT p.Q1545H ABCA9_uc010dez.2_Missense_Mutation_p.Q1507H NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1545 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCTACCTTTCCTGCTGAGCAG 0.458 181 38 --- --- --- --- PASS GPRC5C 55890 broad.mit.edu 37 17 72436967 72436967 + Splice_Site SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:72436967G>T uc002jks.2 + 1 1090 c.1051_splice c.e1+1 p.A351_splice GPRC5C_uc002jkp.2_Splice_Site_p.A396_splice|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Splice_Site_p.A363_splice|GPRC5C_uc002jkt.2_Splice_Site_p.A351_splice|GPRC5C_uc002jku.2_5'Flank NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 CCGGTTGCAGGTGGGTCTCTG 0.552 14 189 --- --- --- --- PASS FDXR 2232 broad.mit.edu 37 17 72860983 72860983 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr17:72860983C>A uc002jly.2 - 7 767 c.680G>T c.(679-681)GGC>GTC p.G227V FDXR_uc010wri.1_Missense_Mutation_p.G175V|FDXR_uc010wrj.1_Missense_Mutation_p.G225V|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.G233V|FDXR_uc002jmc.2_Missense_Mutation_p.G228V|FDXR_uc010wrk.1_Missense_Mutation_p.G258V|FDXR_uc010wrl.1_Missense_Mutation_p.G270V|FDXR_uc002jma.2_Missense_Mutation_p.G228V|FDXR_uc010wrm.1_Missense_Mutation_p.G187V|FDXR_uc002jlz.2_Missense_Mutation_p.G219V|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 227 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) TCCACGCCGGCCCACTAGCCA 0.612 OREG0024720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 207 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 348087 348087 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:348087C>G uc002kkm.2 - 4 473 c.258G>C c.(256-258)GTG>GTC p.V86V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 86 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGTCACTTTCCACTGCTGTGA 0.393 41 113 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6999568 6999568 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:6999568C>A uc002knm.2 - 32 4633 c.4539G>T c.(4537-4539)CCG>CCT p.P1513P LAMA1_uc010wzj.1_Silent_p.P989P NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1513 Laminin EGF-like 17. P -> R (in Ref. 1). axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGAGCCGTGCGGGTTGCAGT 0.592 22 45 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13048935 13048935 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:13048935C>T uc010xac.1 + 16 2225 c.2145C>T c.(2143-2145)ATC>ATT p.I715I CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.I240I|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Silent_p.I456I NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 715 ovary(4)|pancreas(1) 5 TGCTTAGGATCAGCACCATTG 0.403 60 146 --- --- --- --- PASS NPC1 4864 broad.mit.edu 37 18 21125076 21125076 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:21125076G>C uc002kum.3 - 12 2069 c.1795C>G c.(1795-1797)CTG>GTG p.L599V NPC1_uc010xaz.1_Missense_Mutation_p.L332V|NPC1_uc010xba.1_Missense_Mutation_p.L444V NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 599 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAAATGGTCAGATTGGGATTC 0.328 7 157 --- --- --- --- PASS RNF138 51444 broad.mit.edu 37 18 29703512 29703512 + Missense_Mutation SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:29703512A>G uc002kxg.2 + 5 863 c.424A>G c.(424-426)ACA>GCA p.T142A RNF138_uc002kxh.2_Missense_Mutation_p.T48A NM_016271 NP_057355 Q8WVD3 RN138_HUMAN ring finger protein 138 isoform 1 142 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding 0 ATCTGATAACACAGAAACTTA 0.308 11 90 --- --- --- --- PASS MBD1 4152 broad.mit.edu 37 18 47801364 47801364 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:47801364C>T uc010dow.1 - 10 1398 c.961G>A c.(961-963)GTA>ATA p.V321I MBD1_uc002lef.2_Missense_Mutation_p.V128I|MBD1_uc002leg.2_Missense_Mutation_p.V272I|MBD1_uc010xdi.1_Missense_Mutation_p.V372I|MBD1_uc002leh.3_Missense_Mutation_p.V321I|MBD1_uc002len.2_Missense_Mutation_p.V321I|MBD1_uc002lei.3_Missense_Mutation_p.V321I|MBD1_uc002lej.3_Missense_Mutation_p.V321I|MBD1_uc002lek.3_Missense_Mutation_p.V272I|MBD1_uc002lel.3_Intron|MBD1_uc002lem.3_Missense_Mutation_p.V321I|MBD1_uc010xdj.1_Missense_Mutation_p.V321I|MBD1_uc010xdk.1_Missense_Mutation_p.V346I|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Missense_Mutation_p.V321I NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 321 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TCCTCGTCTACACAGTAATAG 0.567 25 136 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55319349 55319349 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:55319349C>T uc002lgw.2 - 25 3317 c.3317G>A c.(3316-3318)AGC>AAC p.S1106N uc002lgu.1_Intron|uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 1106 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) AAGTGCAATGCTTCCAAAAAT 0.358 Byler_disease 40 72 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753205 76753205 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr18:76753205C>T uc002lmt.2 + 2 1214 c.1214C>T c.(1213-1215)TCG>TTG p.S405L SALL3_uc010dra.2_Missense_Mutation_p.S12L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCAATGTGTCGGTGTTCGAG 0.647 10 52 --- --- --- --- PASS SIRT6 51548 broad.mit.edu 37 19 4179132 4179132 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:4179132C>T uc002lzo.2 - 3 406 c.346G>A c.(346-348)GAC>AAC p.D116N SIRT6_uc002lzn.2_Missense_Mutation_p.D44N|SIRT6_uc002lzp.2_Intron|SIRT6_uc010xid.1_Missense_Mutation_p.D44N|SIRT6_uc002lzq.2_Missense_Mutation_p.D116N|SIRT6_uc002lzr.2_Missense_Mutation_p.D44N NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN sirtuin 6 116 NAD (By similarity).|Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGCCCGTCCACGTTCTGG 0.657 19 12 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5131396 5131396 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:5131396A>T uc002mbq.3 + 12 1851 c.1625A>T c.(1624-1626)CAG>CTG p.Q542L KDM4B_uc010xim.1_Missense_Mutation_p.Q576L|KDM4B_uc002mbr.3_Missense_Mutation_p.Q300L NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 542 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GCCTTCAACCAGGAGCACGTG 0.652 63 25 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5131397 5131397 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:5131397G>T uc002mbq.3 + 12 1852 c.1626G>T c.(1624-1626)CAG>CAT p.Q542H KDM4B_uc010xim.1_Missense_Mutation_p.Q576H|KDM4B_uc002mbr.3_Missense_Mutation_p.Q300H NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 542 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 CCTTCAACCAGGAGCACGTGT 0.652 62 25 --- --- --- --- PASS TUBB4 10382 broad.mit.edu 37 19 6495567 6495567 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:6495567C>T uc002mfg.1 - 4 1050 c.943G>A c.(943-945)GCC>ACC p.A315T TUBB4_uc002mff.1_Missense_Mutation_p.A243T|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 315 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CGGAACACGGCGGCCACGGTC 0.647 5 164 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8136935 8136935 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:8136935G>A uc002mjf.2 - 62 8106 c.8085C>T c.(8083-8085)CAC>CAT p.H2695H FBN3_uc002mje.2_Silent_p.H491H NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2695 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ATGTCACCTGGTGGTCCCTGT 0.617 193 88 --- --- --- --- PASS OR7G2 390882 broad.mit.edu 37 19 9213755 9213755 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:9213755G>T uc010xkk.1 - 1 228 c.228C>A c.(226-228)CTC>CTA p.L76L NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGGGGTGTGGAGGTGAGAGT 0.502 65 52 --- --- --- --- PASS OR10H1 26539 broad.mit.edu 37 19 15918646 15918646 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:15918646C>T uc002nbq.2 - 1 291 c.202G>A c.(202-204)GTC>ATC p.V68I NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCTCGGAGACGGAGAGGGCG 0.642 174 54 --- --- --- --- PASS KLF2 10365 broad.mit.edu 37 19 16437684 16437684 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:16437684T>C uc002ndw.2 + 3 994 c.910T>C c.(910-912)TGC>CGC p.C304R NM_016270 NP_057354 Q9Y5W3 KLF2_HUMAN Kruppel-like factor 304 C2H2-type 2. positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCCCTACCACTGCAACTGGGA 0.647 33 19 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154271 22154271 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:22154271C>A uc002nqp.2 - 6 3330 c.3181G>T c.(3181-3183)GTA>TTA p.V1061L ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GTATGAATTACCTTATGTTTT 0.363 53 54 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940877 22940877 + Missense_Mutation SNP G T T rs74455660 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:22940877G>T uc010xrh.1 - 5 1561 c.1561C>A c.(1561-1563)CAG>AAG p.Q521K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTGATGTTTTCTA 0.378 6 404 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934951 30934951 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:30934951C>G uc002nsu.1 + 2 620 c.482C>G c.(481-483)CCG>CGG p.P161R ZNF536_uc010edd.1_Missense_Mutation_p.P161R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 161 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTCAAGTGCCCGTACTGCGAC 0.657 58 116 --- --- --- --- PASS ZNF570 148268 broad.mit.edu 37 19 37975309 37975309 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:37975309T>C uc002ogk.1 + 5 1314 c.785T>C c.(784-786)GTT>GCT p.V262A ZNF570_uc010efl.1_Missense_Mutation_p.V318A|ZNF570_uc010xtr.1_Missense_Mutation_p.V59A NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 262 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAAATCTTGTTCAACATCAG 0.398 25 286 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38964024 38964024 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:38964024G>T uc002oit.2 + 28 3903 c.3773G>T c.(3772-3774)CGA>CTA p.R1258L RYR1_uc002oiu.2_Missense_Mutation_p.R1258L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1258 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAGGTATCCCGAGTGGACGGC 0.612 124 572 --- --- --- --- PASS SARS2 54938 broad.mit.edu 37 19 39409109 39409109 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:39409109C>T uc002oka.2 - 9 1029 c.869G>A c.(868-870)CGC>CAC p.R290H SARS2_uc002ojz.2_Missense_Mutation_p.R100H|SARS2_uc010xup.1_Missense_Mutation_p.R292H|SARS2_uc002okb.2_Missense_Mutation_p.R290H|SARS2_uc010xuq.1_Missense_Mutation_p.R290H|SARS2_uc010xur.1_RNA NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 290 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ATCTTTGAAGCGGGCAGGGTC 0.597 17 397 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44223450 44223450 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:44223450C>T uc002oxh.2 + 2 887 c.740C>T c.(739-741)TCG>TTG p.S247L NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 247 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) GGCCTGCTGTCGCTCCCCGAC 0.657 28 44 --- --- --- --- PASS ZNF283 284349 broad.mit.edu 37 19 44351978 44351978 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:44351978G>T uc002oxr.3 + 7 1493 c.1225G>T c.(1225-1227)GGG>TGG p.G409W ZNF283_uc002oxp.3_Missense_Mutation_p.G270W NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 409 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CAAGGAATGTGGGAAGGCTTT 0.373 60 174 --- --- --- --- PASS BCL3 602 broad.mit.edu 37 19 45262824 45262824 + Silent SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:45262824A>T uc010xxe.1 + 9 1387 c.1317A>T c.(1315-1317)CGA>CGT p.R439R NM_005178 NP_005169 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 439 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding ovary(1)|lung(1) 2 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GGGTCCTCCGAGGCCCTGGCC 0.697 T IGH@ CLL 86 262 --- --- --- --- PASS PPP5C 5536 broad.mit.edu 37 19 46878998 46878998 + Silent SNP C T T rs144237776 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:46878998C>T uc002pem.2 + 3 561 c.501C>T c.(499-501)ATC>ATT p.I167I PPP5C_uc010xya.1_Silent_p.I34I|PPP5C_uc002pen.2_Silent_p.I167I NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 167 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) CGCTGGACATCGAGAGCATGA 0.612 4 13 --- --- --- --- PASS CTU1 90353 broad.mit.edu 37 19 51602334 51602334 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:51602334G>A uc010eop.2 - 3 636 c.571C>T c.(571-573)CGG>TGG p.R191W NM_145232 NP_660275 Q7Z7A3 CTU1_HUMAN ATP binding domain 3 191 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|transferase activity|tRNA binding 0 cgggccagccgccccgcgtcg 0.373 6 6 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51920156 51920156 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:51920156C>T uc002pwo.2 - 3 1086 c.470G>A c.(469-471)GGG>GAG p.G157E SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Missense_Mutation_p.G157E|SIGLEC10_uc010ycy.1_Missense_Mutation_p.G157E|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 157 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CACCGGCTGCCCGGGCTCCAG 0.612 81 151 --- --- --- --- PASS ZNF816A 125893 broad.mit.edu 37 19 53453974 53453974 + Silent SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:53453974G>T uc002qal.1 - 5 1355 c.1054C>A c.(1054-1056)CGA>AGA p.R352R ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.R336R NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 352 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) GCTGAATTTCGACCAAAAGTC 0.423 71 410 --- --- --- --- PASS VSTM1 284415 broad.mit.edu 37 19 54545450 54545450 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:54545450C>A uc002qcw.3 - 6 664 c.488G>T c.(487-489)AGT>ATT p.S163I VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.G132V NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 163 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGATGATGAACCTACAAAAAA 0.493 99 128 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54759149 54759149 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:54759149C>T uc002qex.2 - 5 1063 c.952G>A c.(952-954)GGA>AGA p.G318R LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.G309R|LILRB5_uc002qey.2_Missense_Mutation_p.G318R|LILRB5_uc002qez.2_Missense_Mutation_p.G218R|LILRB5_uc002qfa.1_Missense_Mutation_p.G208R|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 318 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCTCCTCACCTGCGATCAGG 0.677 46 69 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55354367 55354367 + Missense_Mutation SNP A G G rs1130508 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:55354367A>G uc002qhm.1 + 6 755 c.709A>G c.(709-711)AAA>GAA p.K237E KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 237 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACCAAGCTCCAAAACCGGTGA 0.507 4 136 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55452951 55452951 + Nonsense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:55452951C>T uc002qih.3 - 2 205 c.129G>A c.(127-129)TGG>TGA p.W43* NLRP7_uc002qig.3_Nonsense_Mutation_p.W43*|NLRP7_uc002qii.3_Nonsense_Mutation_p.W43*|NLRP7_uc010esk.2_Nonsense_Mutation_p.W43*|NLRP7_uc010esl.2_Nonsense_Mutation_p.W71* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 43 DAPIN. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCACCTCAGACCATGGGGTCT 0.473 34 185 --- --- --- --- PASS NLRP2 55655 broad.mit.edu 37 19 55494236 55494236 + Silent SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:55494236C>A uc002qij.2 + 6 1256 c.1170C>A c.(1168-1170)GCC>GCA p.A390A NLRP2_uc010yfp.1_Silent_p.A367A|NLRP2_uc010esn.2_Silent_p.A366A|NLRP2_uc010eso.2_Silent_p.A387A|NLRP2_uc010esp.2_Silent_p.A368A NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 390 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCAACGCGGCCCTGTTCCAGC 0.627 41 75 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56481925 56481925 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:56481925G>T uc002qmh.2 + 6 2468 c.2397G>T c.(2395-2397)TTG>TTT p.L799F NLRP8_uc010etg.2_Missense_Mutation_p.L799F NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 799 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAGACTGCTTGGCCACCCCTA 0.473 73 209 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539467 56539467 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:56539467A>T uc002qmj.2 + 7 1868 c.1868A>T c.(1867-1869)CAG>CTG p.Q623L NLRP5_uc002qmi.2_Missense_Mutation_p.Q604L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 623 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGCTTAAACAGGCAGGCTTC 0.547 24 74 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286820 57286820 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:57286820G>T uc002qnr.2 - 11 1202 c.820C>A c.(820-822)CCC>ACC p.P274T uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.P70T|ZIM2_uc010ygr.1_Missense_Mutation_p.P70T|ZIM2_uc002qnq.2_Missense_Mutation_p.P274T|ZIM2_uc010etp.2_Missense_Mutation_p.P274T|ZIM2_uc010ygs.1_Missense_Mutation_p.P274T NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 274 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) AGGGTCTTGGGGTCATTCATT 0.443 52 147 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57335870 57335870 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:57335870G>T uc002qnu.2 - 1 505 c.154C>A c.(154-156)CTA>ATA p.L52I ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L52I|PEG3_uc002qnv.2_Missense_Mutation_p.L52I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.L52I NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 52 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACATAGATTAGGTTCCGAAAC 0.488 29 101 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57335871 57335871 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:57335871G>T uc002qnu.2 - 1 504 c.153C>A c.(151-153)AAC>AAA p.N51K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N51K|PEG3_uc002qnv.2_Missense_Mutation_p.N51K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.N51K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 51 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CATAGATTAGGTTCCGAAACC 0.493 29 100 --- --- --- --- PASS C20orf27 54976 broad.mit.edu 37 20 3734772 3734772 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:3734772C>A uc002wji.1 - 6 687 c.458G>T c.(457-459)GGT>GTT p.G153V C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.G178V NM_001039140 NP_001034229 Q9GZN8 CT027_HUMAN hypothetical protein LOC54976 153 0 ACACTTGACACCATCCAGCAG 0.692 37 40 --- --- --- --- PASS ADRA1D 146 broad.mit.edu 37 20 4229009 4229009 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:4229009C>T uc002wkr.2 - 1 651 c.596G>A c.(595-597)CGC>CAC p.R199H NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 199 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GAGTGAGTGGCGCACGCCCAC 0.682 29 16 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13830204 13830204 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:13830204G>T uc010gcf.2 - 20 2076 c.1994C>A c.(1993-1995)CCA>CAA p.P665Q SEL1L2_uc002woq.3_Missense_Mutation_p.P526Q|SEL1L2_uc010zrl.1_Missense_Mutation_p.P552Q|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 665 Helical; (Potential). integral to membrane binding ovary(2) 2 GTCCCAGTGTGGTCCAATGGT 0.473 76 261 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13830205 13830205 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:13830205G>T uc010gcf.2 - 20 2075 c.1993C>A c.(1993-1995)CCA>ACA p.P665T SEL1L2_uc002woq.3_Missense_Mutation_p.P526T|SEL1L2_uc010zrl.1_Missense_Mutation_p.P552T|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 665 Helical; (Potential). integral to membrane binding ovary(2) 2 TCCCAGTGTGGTCCAATGGTG 0.478 76 260 --- --- --- --- PASS C20orf12 55184 broad.mit.edu 37 20 18370448 18370448 + Missense_Mutation SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:18370448C>G uc010zsa.1 - 19 2181 c.1972G>C c.(1972-1974)GAA>CAA p.E658Q C20orf12_uc010zrz.1_Missense_Mutation_p.E177Q|C20orf12_uc002wqp.3_Missense_Mutation_p.E349Q|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E525Q|C20orf12_uc002wqq.3_Missense_Mutation_p.E639Q NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 466 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) CGATTGTCTTCATCACAGCAG 0.517 122 252 --- --- --- --- PASS GGTLC1 92086 broad.mit.edu 37 20 23966534 23966534 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:23966534C>T uc002wts.2 - 4 515 c.382G>A c.(382-384)GCC>ACC p.A128T GGTLC1_uc002wtu.2_Missense_Mutation_p.A128T NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 128 gamma-glutamyltransferase activity ovary(1) 1 GTGCCCCCGGCAGCTCCCACC 0.647 165 362 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31021590 31021590 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:31021590C>A uc002wxs.2 + 11 2015 c.1589C>A c.(1588-1590)GCG>GAG p.A530E ASXL1_uc010geb.2_Missense_Mutation_p.A421E NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 530 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TTTGAGCAGGCGGCCTCTGCA 0.517 F|N|Mis MDS|CMML 5 754 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33577935 33577935 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:33577935C>T uc002xbi.1 + 19 2104 c.2012C>T c.(2011-2013)GCG>GTG p.A671V MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 629 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGAATTATGCGGGCTCCTGC 0.547 6 435 --- --- --- --- PASS SYS1-DBNDD2 767557 broad.mit.edu 37 20 44037164 44037164 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:44037164G>A uc002xnx.2 + 4 553 c.57G>A c.(55-57)CGG>CGA p.R19R DBNDD2_uc002xnz.2_Silent_p.R19R|DBNDD2_uc002xoa.2_Silent_p.R19R|DBNDD2_uc002xob.2_Silent_p.R19R|DBNDD2_uc002xoc.2_Silent_p.R19R|DBNDD2_uc002xod.2_Silent_p.R19R|DBNDD2_uc002xoe.2_Silent_p.R19R|DBNDD2_uc002xof.2_Silent_p.R19R|DBNDD2_uc002xog.2_Silent_p.R19R NM_001048225 NP_001041690 SCF apoptosis response protein 1 isoform a 0 TTCGGGAGCGGCAAAAATTCT 0.552 5 293 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47364384 47364384 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:47364384C>T uc002xtw.1 - 2 276 c.253G>A c.(253-255)GAC>AAC p.D85N NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 85 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCCACTGAGTCGGCCACGTTC 0.597 35 48 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62076081 62076081 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:62076081C>T uc002yey.1 - 4 798 c.621G>A c.(619-621)CGG>CGA p.R207R KCNQ2_uc002yez.1_Silent_p.R207R|KCNQ2_uc002yfa.1_Silent_p.R207R|KCNQ2_uc002yfb.1_Silent_p.R207R|KCNQ2_uc011aax.1_Silent_p.R207R|KCNQ2_uc002yfc.1_Silent_p.R207R NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 207 Helical; Voltage-sensor; Name=Segment S4; (Potential). R -> W (in EBN1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization).|R -> Q (in a patient with isolated myokymia and no history of neonatal seizures; leads to a shift of voltage- dependent activation). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGCGGATCATCCGCAGAATCT 0.667 18 14 --- --- --- --- PASS NPBWR2 2832 broad.mit.edu 37 20 62737384 62737384 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr20:62737384G>A uc011abt.1 - 1 801 c.801C>T c.(799-801)GCC>GCT p.A267A NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 267 Helical; Name=6; (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GGAGGCACACGGCCAGCACGA 0.677 19 98 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28338580 28338580 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr21:28338580C>T uc002ymg.2 - 1 860 c.131G>A c.(130-132)CGC>CAC p.R44H NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 44 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CTGCCGCCGGCGGGGCTGGGC 0.766 5 2 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34051029 34051029 + Missense_Mutation SNP A C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr21:34051029A>C uc002yqh.2 - 12 1553 c.1553T>G c.(1552-1554)TTG>TGG p.L518W SYNJ1_uc011ads.1_Missense_Mutation_p.L482W|SYNJ1_uc002yqf.2_Missense_Mutation_p.L479W|SYNJ1_uc002yqg.2_Missense_Mutation_p.L482W|SYNJ1_uc002yqi.2_Missense_Mutation_p.L518W NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 479 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TCCCAGTAGCAAAACATCAAT 0.393 84 32 --- --- --- --- PASS CLTCL1 8218 broad.mit.edu 37 22 19222104 19222104 + Silent SNP C G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:19222104C>G uc002zpb.2 - 7 1170 c.1095G>C c.(1093-1095)GTG>GTC p.V365V CLTCL1_uc011agv.1_Silent_p.V365V|CLTCL1_uc011agw.1_Silent_p.V365V NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 365 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TGAATTTTCTCACAAACAACT 0.468 T ? ALCL 13 134 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23101436 23101436 + RNA SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:23101436T>A uc011aim.1 + 210 c.10865T>A Parts of antibodies, mostly variable regions. 0 CCTCCGTGTCTGGGTCTCCTG 0.587 192 358 --- --- --- --- PASS ASPHD2 57168 broad.mit.edu 37 22 26830243 26830243 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:26830243A>T uc003acg.2 + 2 1059 c.662A>T c.(661-663)AAC>ATC p.N221I NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 221 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 TGGAAAATGAACAGCACCCCC 0.537 104 449 --- --- --- --- PASS HPS4 89781 broad.mit.edu 37 22 26866751 26866751 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:26866751G>A uc003acl.2 - 7 1189 c.530C>T c.(529-531)GCC>GTC p.A177V HPS4_uc003aci.2_Missense_Mutation_p.A172V|HPS4_uc003acj.2_Missense_Mutation_p.A23V|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_Missense_Mutation_p.A23V|HPS4_uc010gvd.1_Missense_Mutation_p.A177V|HPS4_uc003ach.2_5'UTR NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 177 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 CAGAATGCGGGCTGCCTTCAG 0.572 Hermansky-Pudlak_syndrome 5 234 --- --- --- --- PASS MN1 4330 broad.mit.edu 37 22 28194126 28194126 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:28194126C>A uc003adj.2 - 1 3361 c.2406G>T c.(2404-2406)TTG>TTT p.L802F NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 802 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 AGAGCGCGCCCAATTTACTGG 0.682 T ETV6 AML|meningioma 36 69 --- --- --- --- PASS EMID1 129080 broad.mit.edu 37 22 29639453 29639453 + Missense_Mutation SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:29639453G>A uc003aen.2 + 13 1163 c.1088G>A c.(1087-1089)GGA>GAA p.G363E EMID1_uc003aem.2_Missense_Mutation_p.G365E|EMID1_uc003aeo.2_Missense_Mutation_p.G365E|EMID1_uc003aep.2_Missense_Mutation_p.G344E NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 363 Collagen-like. collagen 0 GGCCCTAAGGGAGACCCTGGT 0.388 8 93 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35799327 35799327 + Splice_Site SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:35799327G>T uc003anu.3 + 3 388 c.294_splice c.e3+1 p.L98_splice MCM5_uc010gwr.2_Splice_Site|MCM5_uc003anv.3_Splice_Site_p.L98_splice NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CCTGCAGCTGGTGAGTGGGAC 0.597 54 119 --- --- --- --- PASS MIOX 55586 broad.mit.edu 37 22 50926092 50926092 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr22:50926092C>T uc003bll.1 + 3 212 c.98C>T c.(97-99)TCA>TTA p.S33L MIOX_uc003blm.1_Missense_Mutation_p.S33L|MIOX_uc003bln.1_Missense_Mutation_p.S33L NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 33 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCCTGCAGTCAGGTCCCCTC 0.667 39 102 --- --- --- --- PASS ARSE 415 broad.mit.edu 37 X 2864051 2864051 + Missense_Mutation SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:2864051C>T uc004crc.3 - 7 1229 c.979G>A c.(979-981)GAC>AAC p.D327N ARSE_uc011mhi.1_Missense_Mutation_p.D273N|ARSE_uc011mhh.1_Missense_Mutation_p.D352N NM_000047 NP_000038 P51690 ARSE_HUMAN arylsulfatase E precursor 327 skeletal system development Golgi stack arylsulfatase activity|metal ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCATCCAGTCCATCTCCTCT 0.473 35 67 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53574823 53574823 + Missense_Mutation SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:53574823T>C uc004dsp.2 - 68 10849 c.10447A>G c.(10447-10449)ACC>GCC p.T3483A HUWE1_uc004dsn.2_Missense_Mutation_p.T2291A NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3483 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 gcagtggtggtggAGGAAGCA 0.383 13 0 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65480022 65480022 + Silent SNP T C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:65480022T>C uc011moz.1 + 19 3186 c.3126T>C c.(3124-3126)CCT>CCC p.P1042P HEPH_uc004dwn.2_Silent_p.P1042P|HEPH_uc004dwo.2_Silent_p.P772P|HEPH_uc010nkr.2_Silent_p.P850P|HEPH_uc011mpa.1_Silent_p.P1042P NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1039 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CCAGCAACCCTGGGACATGGC 0.527 43 14 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73062730 73062730 + RNA SNP A G G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:73062730A>G uc004ebm.1 - 1 c.9859T>C NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 ATAGTCTGTAAAAAGGGGCCA 0.493 122 15 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216990 78216990 + Missense_Mutation SNP C A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:78216990C>A uc004ede.2 + 4 1342 c.973C>A c.(973-975)CGC>AGC p.R325S P2RY10_uc004edf.2_Missense_Mutation_p.R325S NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 325 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TTCTGTGACCCGCTCCCGCCT 0.438 266 36 --- --- --- --- PASS PAK3 5063 broad.mit.edu 37 X 110435802 110435802 + Silent SNP C T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:110435802C>T uc004epa.2 + 10 1020 c.993C>T c.(991-993)GTC>GTT p.V331V PAK3_uc010npt.1_Silent_p.V316V|PAK3_uc010npu.1_Silent_p.V316V|PAK3_uc004eoy.1_Silent_p.V71V|PAK3_uc004eoz.2_Silent_p.V316V|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.V352V|PAK3_uc010npw.1_Silent_p.V337V NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 331 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 AAATTCTGGTCATGAGGGAAA 0.299 TSP Lung(19;0.15) 17 73 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118230556 118230556 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:118230556G>T uc004era.3 - 8 1167 c.1167C>A c.(1165-1167)TTC>TTA p.F389L NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 389 p.G389D(1) ovary(4)|skin(1) 5 CTGGGGTGCTGAAACCAATGG 0.498 57 7 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138857060 138857060 + Nonsense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:138857060T>A uc004faz.2 - 19 2113 c.2014A>T c.(2014-2016)AAA>TAA p.K672* ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Nonsense_Mutation_p.K672* NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 672 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ACCCAGACTTTCAGGCCTGCT 0.488 26 125 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038093 139038093 + Missense_Mutation SNP A T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:139038093A>T uc004fbb.2 - 3 1070 c.1048T>A c.(1048-1050)TAC>AAC p.Y350N NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 350 Cytoplasmic (Potential). integral to membrane 0 ACTTGATTGTACCCTCTGTCA 0.353 90 26 --- --- --- --- PASS SPANXN1 494118 broad.mit.edu 37 X 144329181 144329181 + Missense_Mutation SNP G T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:144329181G>T uc004fcb.2 + 1 75 c.75G>T c.(73-75)GAG>GAT p.E25D NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 25 0 Acute lymphoblastic leukemia(192;6.56e-05) AAAATGATGAGGTAAGATtgt 0.234 179 53 --- --- --- --- PASS MAGEA4 4103 broad.mit.edu 37 X 151092185 151092185 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:151092185G>C uc004fez.2 + 3 205 c.49G>C c.(49-51)GAG>CAG p.E17Q MAGEA4_uc004ffa.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffb.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffc.2_Missense_Mutation_p.E17Q|MAGEA4_uc004ffd.2_Missense_Mutation_p.E17Q NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 17 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGGCGTTGAGGCCCAAGA 0.602 13 112 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870230 151870230 + Missense_Mutation SNP G C C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:151870230G>C uc004ffq.1 + 3 1114 c.920G>C c.(919-921)TGG>TCG p.W307S MAGEA6_uc004ffr.1_Missense_Mutation_p.W307S|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 307 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CTGCATGAGTGGGCTTTGAGA 0.577 249 44 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152818709 152818709 + Silent SNP G A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrX:152818709G>A uc004fht.1 + 11 2166 c.2040G>A c.(2038-2040)GAG>GAA p.E680E ATP2B3_uc004fhs.1_Silent_p.E680E NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 680 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGCATTGAGGACCCTGTGC 0.642 13 126 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 4967120 4967120 + Missense_Mutation SNP T A A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chrY:4967120T>A uc004fqo.2 + 2 2235 c.1501T>A c.(1501-1503)TCT>ACT p.S501T PCDH11Y_uc010nwg.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fql.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S490T|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S501T|PCDH11Y_uc004fqp.1_Missense_Mutation_p.S272T NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 501 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TTTCACCCAGTCTTTCGTAAC 0.433 51 23 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC - - rs35817759 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr1:240255569_240255571delGGC uc010pyd.1 + 1 385_387 c.160_162delGGC c.(160-162)GGCdel p.G59del FMN2_uc010pye.1_In_Frame_Del_p.G59del NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.557 6 5 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA - - rs144216147 TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr11:1651191_1651199delGGCTGTGGA uc001lty.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)GGCTGTGGAdel p.GCG47del NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47_49 keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.129 32 38 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10600448 10600449 + Frame_Shift_Ins INS - T T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx c8baeba2-2a73-41d7-9226-b89a8f42e18f 8f754086-e8c4-4f80-bdb5-50b62ef8bbf4 g.chr19:10600448_10600449insT uc002moq.1 - 4 1562_1563 c.1406_1407insA c.(1405-1407)AATfs p.N469fs KEAP1_uc002mop.1_Frame_Shift_Ins_p.N187fs|KEAP1_uc002mor.1_Frame_Shift_Ins_p.N469fs NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 469 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AAAGGAGACGATTGAGGACAGC 0.554 38 55 --- --- --- ---