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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TP73 7161 broad.mit.edu 37 1 3640003 3640003 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:3640003G>A uc001akp.2 + 6 812 c.702G>A c.(700-702)CAG>CAA p.Q234Q TP73_uc001akq.2_Silent_p.Q234Q|TP73_uc010nzj.1_Silent_p.Q185Q|TP73_uc001akr.2_Silent_p.Q185Q|TP73_uc009vlk.1_Silent_p.Q185Q|TP73_uc001aks.2_Silent_p.Q185Q|TP73_uc010nzk.1_Silent_p.Q163Q NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 234 DNA-binding (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CCGGCAGGCAGAGCGTCGTGG 0.657 NaN 0 0 0 0.014758 0 5 39 VPS13D 55187 broad.mit.edu 37 1 12389897 12389897 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:12389897C>G uc001atv.2 + 37 8350 c.8209C>G c.(8209-8211)CTT>GTT p.L2737V VPS13D_uc001atw.2_Missense_Mutation_p.L2737V|VPS13D_uc001atx.2_Missense_Mutation_p.L1925V|VPS13D_uc001aty.1_Missense_Mutation_p.L475V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2737 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTGAATTTTCTTCAGCGTGT 0.428 NaN 0 0 0 0.105934 0 11 39 UQCRHL 440567 broad.mit.edu 37 1 16133952 16133952 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:16133952C>A uc009vol.1 - 1 243 c.193G>T c.(193-195)GAG>TAG p.E65* NM_001089591 NP_001083060 ubiquinol-cytochrome c reductase hinge 0 GTGCAATCCTCTTCTGTATGT 0.463 NaN 1 0 2.32078e-09 0.024245 2.57143e-09 13 154 ARHGEF10L 55160 broad.mit.edu 37 1 17958953 17958953 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:17958953C>G uc001ban.2 + 16 1881 c.1722C>G c.(1720-1722)ATC>ATG p.I574M ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I535M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I535M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I535M|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I332M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I340M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I352M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I282M|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 574 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTGCCAACATCAACTTCAAGT 0.597 NaN 0 0 0 0.108266 0 19 132 MYOM3 127294 broad.mit.edu 37 1 24388577 24388577 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:24388577C>T uc001bin.3 - 33 3956 c.3793G>A c.(3793-3795)GAT>AAT p.D1265N MYOM3_uc001bil.3_Missense_Mutation_p.D158N|MYOM3_uc001bim.3_Missense_Mutation_p.D922N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1265 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTTATCCGATCACCACTCTCC 0.527 NaN 0 0 0 0.055883 0 19 147 WDTC1 23038 broad.mit.edu 37 1 27623588 27623588 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:27623588C>T uc009vst.2 + 11 1534 c.999C>T c.(997-999)TCC>TCT p.S333S WDTC1_uc001bno.2_Silent_p.S332S|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.S11S NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 333 protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) acggtgtgtccaaTGGCCTGC 0.483 NaN OREG0013279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.038147 0 7 21 WDTC1 23038 broad.mit.edu 37 1 27631682 27631682 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:27631682G>C uc009vst.2 + 15 2369 c.1834G>C c.(1834-1836)GAG>CAG p.E612Q WDTC1_uc001bno.2_Missense_Mutation_p.E611Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.E290Q NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 612 WD 7. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCCCCGACCAGAGGTGAGGGT 0.617 NaN 0 0 0 0.058154 0 7 24 PHACTR4 65979 broad.mit.edu 37 1 28818294 28818294 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:28818294G>A uc001bpw.2 + 12 2293 c.2011G>A c.(2011-2013)GAC>AAC p.D671N PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.D655N|PHACTR4_uc001bpy.2_Missense_Mutation_p.D681N|PHACTR4_uc001bpz.2_RNA NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 671 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GACCCCTGCTGACAAGGTACC 0.368 NaN 0 0 0 0.009096 0 3 63 CSMD2 114784 broad.mit.edu 37 1 34166245 34166245 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:34166245C>T uc001bxn.1 - 23 3514 c.3485G>A c.(3484-3486)CGT>CAT p.R1162H CSMD2_uc001bxm.1_Missense_Mutation_p.R1202H|CSMD2_uc001bxo.1_Missense_Mutation_p.R75H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1162 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCAGCAAACGGGCGGAGTT 0.498 NaN 0 0 0 0.076483 0 20 52 UTP11L 51118 broad.mit.edu 37 1 38484964 38484964 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:38484964C>T uc001ccn.3 + 6 567 c.476C>T c.(475-477)CCG>CTG p.P159L UTP11L_uc009vvm.2_Missense_Mutation_p.P90L|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.P90L NM_016037 NP_057121 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar 159 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAAACAGCCCCGGAGCTAGTC 0.433 NaN 0 0 0 0.099896 0 25 115 ELAVL4 1996 broad.mit.edu 37 1 50642770 50642770 + Nonsense_Mutation SNP T T G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:50642770T>G uc001csb.2 + 3 528 c.260T>G c.(259-261)TTA>TGA p.L87* ELAVL4_uc001cry.3_Nonsense_Mutation_p.L90*|ELAVL4_uc001crz.3_Nonsense_Mutation_p.L87*|ELAVL4_uc001csa.3_Nonsense_Mutation_p.L104*|ELAVL4_uc001csc.3_Nonsense_Mutation_p.L87*|ELAVL4_uc009vyu.2_Nonsense_Mutation_p.L92*|ELAVL4_uc010omz.1_Nonsense_Mutation_p.L92* NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 87 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GGACAGAGTTTAGGGTATGGA 0.264 NaN 0 0 0 0.014758 0 5 29 PGM1 5236 broad.mit.edu 37 1 64095755 64095755 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:64095755C>T uc001dbh.2 + 3 765 c.552C>T c.(550-552)TTC>TTT p.F184F PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Silent_p.F202F NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 184 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 TCAAACCCTTCACAGGCATGT 0.428 NaN 0 0 0 0.038147 0 7 83 ATP1A1 476 broad.mit.edu 37 1 116931580 116931580 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:116931580C>T uc001ege.2 + 7 1032 c.693C>T c.(691-693)TTC>TTT p.F231F ATP1A1_uc010owv.1_Silent_p.F200F|ATP1A1_uc010oww.1_Silent_p.F231F|ATP1A1_uc010owx.1_Silent_p.F200F NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 231 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) CTCCAGATTTCACAAATGAAA 0.443 NaN 0 0 0 0.021553 0 5 60 FLG2 388698 broad.mit.edu 37 1 152325523 152325523 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:152325523G>C uc001ezw.3 - 3 4812 c.4739C>G c.(4738-4740)ACT>AGT p.T1580S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1580 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCACTGTCAGTGGACTCACT 0.507 NaN 0 0 0 0.021553 0 5 282 FLG2 388698 broad.mit.edu 37 1 152325542 152325542 + Missense_Mutation SNP T T A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:152325542T>A uc001ezw.3 - 3 4793 c.4720A>T c.(4720-4722)ACT>TCT p.T1574S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1574 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTGGCTAGTTCTCTGTCTT 0.507 NaN 0 0 0 0.02938 0 5 297 ATF6 22926 broad.mit.edu 37 1 161823073 161823073 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:161823073G>A uc001gbr.2 + 12 1560 c.1493G>A c.(1492-1494)AGA>AAA p.R498K ATF6_uc001gbq.1_Missense_Mutation_p.R498K NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 498 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACCAAGTCAAGAAGAATGACA 0.313 NaN 0 0 0 0.004672 0 3 32 F5 2153 broad.mit.edu 37 1 169512142 169512142 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:169512142C>G uc001ggg.1 - 13 2331 c.2186G>C c.(2185-2187)AGA>ACA p.R729T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 729 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGCAGCCAGTCTGTTCTGGTA 0.433 NaN 0 0 0 0.069456 0 34 182 EXOC8 149371 broad.mit.edu 37 1 231471422 231471422 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:231471422C>G uc001huq.2 - 1 2157 c.2070G>C c.(2068-2070)GAG>GAC p.E690D NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 690 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CAAACCTTTTCTCCACCACAG 0.423 NaN 0 0 0 0.069456 0 30 130 DIP2C 22982 broad.mit.edu 37 10 468809 468809 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:468809C>T uc001ifp.2 - 5 649 c.559G>A c.(559-561)GGG>AGG p.G187R DIP2C_uc009xhk.1_Silent_p.A188A NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 187 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGGGCAGCCCCGCTGCCCCCG 0.617 NaN 0 0 0 0.105934 0 10 61 LARP4B 23185 broad.mit.edu 37 10 888915 888915 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:888915C>A uc001ifs.1 - 6 644 c.603G>T c.(601-603)AAG>AAT p.K201N NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 201 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TGCTGAGCTTCTTGATGTGGT 0.388 NaN 1 0 3.59834e-05 0.021553 3.81892e-05 5 47 CALML3 810 broad.mit.edu 37 10 5567418 5567418 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:5567418G>A uc001iie.1 + 1 495 c.370G>A c.(370-372)GAG>AAG p.E124K uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN calmodulin-like 3 124 EF-hand 4. calcium ion binding 0 GGAGGTGGACGAGATGATCCG 0.657 NaN 0 0 0 0.09319 0 10 32 C10orf18 54906 broad.mit.edu 37 10 5790413 5790413 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:5790413G>A uc001iij.2 + 15 5654 c.5029G>A c.(5029-5031)GAG>AAG p.E1677K C10orf18_uc001iik.2_Missense_Mutation_p.E521K NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1677 ovary(1)|central_nervous_system(1) 2 AATAAATGCAGAGCCAGTGTT 0.453 NaN 0 0 0 0.105934 0 9 51 PCDH15 65217 broad.mit.edu 37 10 55587219 55587219 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:55587219G>A uc001jju.1 - 32 4696 c.4301C>T c.(4300-4302)GCG>GTG p.A1434V PCDH15_uc010qhq.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.1_Missense_Mutation_p.A1434V|PCDH15_uc010qhs.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.1_Missense_Mutation_p.A1441V|PCDH15_uc010qhu.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhy.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1434 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) cggcgggggcgCTGCCACTGG 0.443 NaN HNSCC(58;0.16) 0 0 0 0.09319 0 10 59 JMJD1C 221037 broad.mit.edu 37 10 64950860 64950860 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:64950860C>T uc001jmn.2 - 17 6385 c.6085G>A c.(6085-6087)GAA>AAA p.E2029K JMJD1C_uc001jml.2_Missense_Mutation_p.E1792K|JMJD1C_uc001jmm.2_Missense_Mutation_p.E1741K|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1847K|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1847K|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2029 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AGGGTAAGTTCTTTGTTTTCT 0.224 NaN 0 0 0 0.02938 0 6 30 MAT1A 4143 broad.mit.edu 37 10 82043687 82043687 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:82043687C>T uc001kbw.2 - 3 532 c.277G>A c.(277-279)GAT>AAT p.D93N NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 93 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GCTGAGTCATCGTAGCCGATG 0.587 NaN 0 0 0 0.055883 0 15 75 WAPAL 23063 broad.mit.edu 37 10 88206121 88206121 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:88206121T>C uc001kdo.2 - 16 3642 c.3200A>G c.(3199-3201)GAT>GGT p.D1067G WAPAL_uc009xsv.2_Missense_Mutation_p.D326G|WAPAL_uc001kdn.2_Missense_Mutation_p.D1104G|WAPAL_uc009xsw.2_Missense_Mutation_p.D1061G NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 1067 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TCCACTCTTATCATGCTGAGT 0.438 NaN 0 0 0 0.069234 0 9 90 CEP55 55165 broad.mit.edu 37 10 95275294 95275294 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:95275294A>G uc009xug.2 + 5 843 c.661A>G c.(661-663)AAA>GAA p.K221E CEP55_uc001kiq.3_Missense_Mutation_p.K221E NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 221 Interaction with TSG101. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) ACAGCAGACAAAAAAGCCTGA 0.378 NaN 0 0 0 0.043863 0 16 61 PDZD7 79955 broad.mit.edu 37 10 102789913 102789913 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:102789913G>A uc001kso.1 - 2 279 c.64C>T c.(64-66)CTG>TTG p.L22L PDZD7_uc001ksn.2_Silent_p.L22L|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 22 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AGGGAGCTCAGAGAGCCGGAG 0.662 NaN 0 0 0 0.009096 0 4 24 CCDC147 159686 broad.mit.edu 37 10 106214254 106214254 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:106214254G>T uc001kyh.2 + 18 2719 c.2585G>T c.(2584-2586)GGA>GTA p.G862V NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 862 ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ACTGGGGGCGGATTTCCTCTC 0.463 NaN 1 0 1.56452e-12 0.043863 1.78343e-12 19 102 PNLIP 5406 broad.mit.edu 37 10 118321149 118321149 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:118321149G>A uc001lcm.2 + 12 1377 c.1334_splice c.e12+1 p.Q445_splice NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTGGAAAACAGTAAGTAATGA 0.363 NaN 0 0 0 0.083992 0 19 70 SIGIRR 59307 broad.mit.edu 37 11 408082 408082 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:408082G>A uc001lpd.2 - 4 661 c.331C>T c.(331-333)CAG>TAG p.Q111* SIGIRR_uc001lpf.2_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpe.1_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpg.2_Nonsense_Mutation_p.Q111* NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 111 Extracellular (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGCTCTCTGAAGAGTGAAG 0.592 NaN 0 0 0 0.055883 0 18 69 EPS8L2 64787 broad.mit.edu 37 11 720214 720214 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:720214C>T uc001lqt.2 + 5 565 c.318C>T c.(316-318)ATC>ATT p.I106I EPS8L2_uc010qwj.1_Silent_p.I106I|EPS8L2_uc001lqu.2_Silent_p.I106I|EPS8L2_uc010qwk.1_Silent_p.I106I|EPS8L2_uc001lqv.2_Silent_p.I61I|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 106 PID. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCTGGACATCGAGTCACAGG 0.672 NaN 0 0 0 0.038147 0 6 31 TRPM5 29850 broad.mit.edu 37 11 2428020 2428020 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:2428020C>T uc001lwm.3 - 21 3131 c.3122G>A c.(3121-3123)AGA>AAA p.R1041K TRPM5_uc010qxl.1_Missense_Mutation_p.R1041K|TRPM5_uc009ydn.2_Missense_Mutation_p.R1043K NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 1041 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGCAGGTCTCTCTCTGGGAA 0.632 NaN 0 0 0 0.038147 0 6 44 ZNF214 7761 broad.mit.edu 37 11 7022459 7022459 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:7022459C>G uc001mfa.2 - 3 758 c.455G>C c.(454-456)AGA>ACA p.R152T ZNF214_uc010ray.1_Missense_Mutation_p.R152T|ZNF214_uc009yfh.1_Missense_Mutation_p.R152T NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GTAGATTTCTCTACCATAGTC 0.378 NaN 0 0 0 0.105934 0 12 74 AMBRA1 55626 broad.mit.edu 37 11 46567156 46567156 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:46567156G>C uc010rgu.1 - 5 909 c.549C>G c.(547-549)GTC>GTG p.V183V AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V183V|AMBRA1_uc001ncu.1_Silent_p.V183V|AMBRA1_uc001ncv.2_Silent_p.V183V|AMBRA1_uc001ncw.2_Silent_p.V183V|AMBRA1_uc001ncx.2_Silent_p.V183V NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 183 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GCACTCACCGGACCCGTTCCA 0.547 NaN 0 0 0 0.028581 0 14 97 AMBRA1 55626 broad.mit.edu 37 11 46567257 46567257 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:46567257G>A uc010rgu.1 - 5 808 c.448C>T c.(448-450)CAG>TAG p.Q150* AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q150* NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 150 WD 3. autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGCAGGAGCTGAGCCGTAGGG 0.527 NaN 0 0 0 0.024245 0 13 57 ZDHHC5 25921 broad.mit.edu 37 11 57457644 57457644 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:57457644G>A uc001nkx.1 + 5 1782 c.526G>A c.(526-528)GAG>AAG p.E176K ZDHHC5_uc001nky.1_Missense_Mutation_p.E123K|ZDHHC5_uc001nkz.1_5'UTR NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 176 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 CTACCACATAGAGGAACTCTC 0.502 NaN 0 0 0 0.021553 0 6 75 VWCE 220001 broad.mit.edu 37 11 61026231 61026231 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:61026231G>C uc001nra.2 - 20 3063 c.2784C>G c.(2782-2784)CTC>CTG p.L928L VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 928 extracellular region calcium ion binding ovary(1) 1 GGGCTGTGGAGAGTCTAGAGG 0.642 NaN 0 0 0 0.0333 0 13 64 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:62296070A>G uc001ntl.2 - 5 6119 c.5819T>C c.(5818-5820)GTG>GCG p.V1940A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1940 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CGACACATCCACATCCCCTTT 0.502 NaN 0 0 0 0.014758 0 5 259 RCOR2 283248 broad.mit.edu 37 11 63681907 63681907 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:63681907C>T uc001nyc.2 - 6 975 c.587G>A c.(586-588)CGC>CAC p.R196H NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN REST corepressor 2 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1)|skin(1) 2 TTTGTCCTTGCGGCCCCCCAG 0.602 NaN 0 0 0 0.014758 0 4 97 ZFPL1 7542 broad.mit.edu 37 11 64855481 64855481 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:64855481C>T uc001ocq.1 + 8 993 c.828C>T c.(826-828)TTC>TTT p.F276F NM_006782 NP_006773 O95159 ZFPL1_HUMAN zinc finger protein-like 1 276 Helical; (Potential). regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding ovary(1) 1 TGCTGGGCTTCCTGGCCCTCC 0.687 NaN 0 0 0 0.02938 0 7 101 ANO1 55107 broad.mit.edu 37 11 70003070 70003070 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:70003070G>A uc001opj.2 + 16 1826 c.1521G>A c.(1519-1521)CTG>CTA p.L507L ANO1_uc001opk.1_Silent_p.L449L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L216L NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 507 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 AAGTGAAGCTGACATGGAGAG 0.502 NaN 0 0 0 0.014758 0 4 17 FAT3 120114 broad.mit.edu 37 11 92616261 92616261 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:92616261C>T uc001pdj.3 + 23 12656 c.12639C>T c.(12637-12639)CGC>CGT p.R4213R FAT3_uc001pdi.3_Silent_p.R653R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4213 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAACCTGCGCGGCAGTGGGG 0.657 NaN TCGA Ovarian(4;0.039) 0 0 0 0.0333 0 15 72 EXPH5 23086 broad.mit.edu 37 11 108384321 108384321 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:108384321C>T uc001pkk.2 - 6 2024 c.1913G>A c.(1912-1914)AGA>AAA p.R638K EXPH5_uc010rvy.1_Missense_Mutation_p.R450K|EXPH5_uc010rvz.1_Missense_Mutation_p.R482K|EXPH5_uc010rwa.1_Missense_Mutation_p.R562K NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 638 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGGATTCCTTCTGTCATCAGA 0.408 NaN 0 0 0 0.024245 0 12 75 HSPB2 3316 broad.mit.edu 37 11 111784264 111784264 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:111784264C>A uc001pmg.2 + 2 288 c.194C>A c.(193-195)TCC>TAC p.S65Y CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron NM_001541 NP_001532 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 65 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding ovary(2)|skin(1) 3 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GCAGGGGCCTCCGAGCTTAGG 0.622 NaN 1 0 0.000157383 0.038147 0.000165761 7 106 USP28 57646 broad.mit.edu 37 11 113683113 113683113 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:113683113G>A uc001poh.2 - 16 1890 c.1857C>T c.(1855-1857)ATC>ATT p.I619I USP28_uc001pog.2_Silent_p.I327I|USP28_uc010rwy.1_Silent_p.I494I|USP28_uc001poi.2_5'UTR NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 619 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CAGTAACAGAGATGTCATTGT 0.418 NaN 0 0 0 0.058154 0 10 77 FOXR1 283150 broad.mit.edu 37 11 118851213 118851213 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:118851213T>C uc001pui.2 + 5 850 c.625T>C c.(625-627)TTT>CTT p.F209L FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.F40L NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 209 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCACTTCCCCTTTTTCCGGAC 0.562 NaN 0 0 0 0.009096 0 3 74 OR8B8 26493 broad.mit.edu 37 11 124310774 124310774 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:124310774C>A uc010sal.1 - 1 208 c.208G>T c.(208-210)GAT>TAT p.D70Y NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGCAGAAATCTATGAAGGAC 0.453 NaN 1 0 0.000602214 0.014758 0.000629484 5 56 CLEC4A 50856 broad.mit.edu 37 12 8288244 8288244 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:8288244C>G uc001qtz.1 + 4 609 c.362C>G c.(361-363)TCT>TGT p.S121C CLEC4A_uc009zga.1_Missense_Mutation_p.S82C|CLEC4A_uc001qub.1_Missense_Mutation_p.S88C|CLEC4A_uc001quc.1_Missense_Mutation_p.S49C|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 121 Extracellular (Potential).|C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) TACTTTATTTCTACTGAATCA 0.438 NaN 0 0 0 0.004672 0 3 69 EPS8 2059 broad.mit.edu 37 12 15815014 15815014 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:15815014A>G uc009zif.2 - 9 850 c.756T>C c.(754-756)TAT>TAC p.Y252Y EPS8_uc001rdb.2_Silent_p.Y252Y|EPS8_uc009zig.2_5'UTR|EPS8_uc010shv.1_5'UTR NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 252 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CCTGCTCATGATACTGCCTTG 0.383 NaN 0 0 0 0.009096 0 3 136 SOX5 6660 broad.mit.edu 37 12 24048864 24048864 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:24048864C>A uc001rfw.2 - 2 235 c.133G>T c.(133-135)GAC>TAC p.D45Y SOX5_uc001rfx.2_Missense_Mutation_p.D32Y|SOX5_uc001rfy.2_Missense_Mutation_p.D32Y|SOX5_uc010siv.1_Missense_Mutation_p.D32Y|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D32Y|SOX5_uc001rga.2_Missense_Mutation_p.D45Y NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 45 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GGGAGCCCGTCACTCTCCTCT 0.527 NaN 1 0 1.04594e-18 0.086207 1.20719e-18 35 183 KRT2 3849 broad.mit.edu 37 12 53044194 53044194 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:53044194G>A uc001sat.2 - 2 762 c.729C>T c.(727-729)CTC>CTT p.L243L NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 243 Coil 1B.|Rod. 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) TTTCTGCAGTGAGCCCATCCA 0.488 NaN 0 0 0 0.048971 0 47 177 SLC26A10 65012 broad.mit.edu 37 12 58017661 58017661 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:58017661C>T uc001spe.2 + 8 1407 c.1096C>T c.(1096-1098)CTG>TTG p.L366L SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 366 Helical; (Potential). integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) GTCGGTGCTGCTGTGGCTGGG 0.562 NaN 0 0 0 0.024245 0 14 84 USP15 9958 broad.mit.edu 37 12 62783261 62783261 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:62783261A>G uc001src.1 + 12 1533 c.1524A>G c.(1522-1524)GCA>GCG p.A508A USP15_uc001srb.1_Silent_p.A479A NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 508 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TTTGTACAGCATTGTCTGCTT 0.308 NaN 0 0 0 0.0333 0 14 51 USP15 9958 broad.mit.edu 37 12 62798096 62798096 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:62798096G>A uc001src.1 + 22 2896 c.2887G>A c.(2887-2889)GAA>AAA p.E963K USP15_uc001srb.1_Missense_Mutation_p.E934K NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 963 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGAAAGTGATGAAGATAGCAA 0.403 NaN 0 0 0 0.020292 0 14 46 GRIP1 23426 broad.mit.edu 37 12 66770815 66770815 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:66770815C>T uc001stk.2 - 21 2845 c.2604G>A c.(2602-2604)TTG>TTA p.L868L GRIP1_uc010sta.1_Silent_p.L812L|GRIP1_uc001stj.2_Intron|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Intron NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 920 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCATGTTTCTCAAAGACACAC 0.393 NaN 0 0 0 0.028581 0 15 95 ATP2B1 490 broad.mit.edu 37 12 90036059 90036059 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:90036059C>G uc001tbh.2 - 2 463 c.282G>C c.(280-282)AAG>AAC p.K94N ATP2B1_uc001tbg.2_Missense_Mutation_p.K94N NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 94 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)|central_nervous_system(1) 3 AGGTTTTTGGCTTTTTAGGAG 0.318 NaN 0 0 0 0.048971 0 41 241 EEA1 8411 broad.mit.edu 37 12 93247696 93247696 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:93247696G>A uc001tck.2 - 6 666 c.401C>T c.(400-402)TCA>TTA p.S134L NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 134 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 GTTACCTGCTGATGAATCAGT 0.308 NaN 0 0 0 0.047766 0 8 28 UHRF1BP1L 23074 broad.mit.edu 37 12 100453074 100453074 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:100453074C>T uc001tgq.2 - 14 2210 c.1981G>A c.(1981-1983)GCT>ACT p.A661T UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A311T NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 661 ovary(2) 2 TGTTCATGAGCATGTCTCTGG 0.318 NaN 0 0 0 0.004672 0 3 56 BTBD11 121551 broad.mit.edu 37 12 108006588 108006588 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:108006588G>A uc001tmk.1 + 6 2362 c.1841G>A c.(1840-1842)CGT>CAT p.R614H BTBD11_uc009zut.1_Missense_Mutation_p.R614H|BTBD11_uc001tmj.2_Missense_Mutation_p.R614H|BTBD11_uc001tml.1_Missense_Mutation_p.R151H NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 614 ANK 1. integral to membrane DNA binding skin(2)|ovary(1) 3 GCCTGCGTCCGTGGGGACGAG 0.577 NaN 0 0 0 0.058154 0 7 41 NOS1 4842 broad.mit.edu 37 12 117698400 117698400 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:117698400G>C uc001twm.1 - 14 2923 c.2237C>G c.(2236-2238)TCG>TGG p.S746W NOS1_uc001twn.1_5'Flank NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 746 Calmodulin-binding (Potential). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAGCTTGGCCGAGAACTTGAC 0.522 NaN 0 0 0 0.014758 0 4 31 CLIP1 6249 broad.mit.edu 37 12 122825899 122825899 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:122825899C>T uc001ucg.1 - 10 1958 c.1852G>A c.(1852-1854)GAT>AAT p.D618N CLIP1_uc001uch.1_Missense_Mutation_p.D607N|CLIP1_uc001uci.1_Missense_Mutation_p.D572N|CLIP1_uc001ucj.1_Missense_Mutation_p.D308N|CLIP1_uc009zxo.1_Missense_Mutation_p.D174N NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 618 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GCTATCACATCTGAGTTCTCT 0.478 NaN 0 0 0 0.049695 0 18 67 POLE 5426 broad.mit.edu 37 12 133257231 133257231 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:133257231C>G uc001uks.1 - 3 291 c.247G>C c.(247-249)GAT>CAT p.D83H POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 83 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AAGTAGTAATCCACTGCACTG 0.428 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.028581 0 15 64 PAN3 255967 broad.mit.edu 37 13 28834599 28834599 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:28834599C>T uc001urz.2 + 7 834 c.826C>T c.(826-828)CAT>TAT p.H276Y PAN3_uc010tdo.1_Missense_Mutation_p.H422Y|PAN3_uc001ury.2_Missense_Mutation_p.H110Y|PAN3_uc001urx.2_Missense_Mutation_p.H222Y NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 422 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TCCAAACTATCATATTTATCC 0.323 NaN 0 0 0 0.030593 0 24 56 FRY 10129 broad.mit.edu 37 13 32745308 32745308 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:32745308G>A uc001utx.2 + 18 2548 c.2052G>A c.(2050-2052)TCG>TCA p.S684S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCTTGATTCGTCCCTGAAGT 0.443 NaN 0 0 0 0.080422 0 30 51 ATP11A 23250 broad.mit.edu 37 13 113532571 113532571 + Missense_Mutation SNP T T A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:113532571T>A uc001vsi.3 + 29 3456 c.3368T>A c.(3367-3369)TTT>TAT p.F1123Y ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1123 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCAACCATCTTTATGCTTTCT 0.547 NaN 0 0 0 0.014758 0 4 80 ADPRHL1 113622 broad.mit.edu 37 13 114077230 114077230 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:114077230G>A uc001vtq.1 - 7 1059 c.972C>T c.(970-972)CTC>CTT p.L324L ADPRHL1_uc001vtp.1_Silent_p.L242L NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 324 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTTTGGGAACGAGGTCCAGGC 0.617 NaN 0 0 0 0.045705 0 27 83 REC8 9985 broad.mit.edu 37 14 24648055 24648055 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:24648055G>A uc001wmr.2 + 16 1563 c.1136G>A c.(1135-1137)CGA>CAA p.R379Q REC8_uc001wms.2_Missense_Mutation_p.R379Q NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 379 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) GCCCTCAGGCGAGAGCTGCCT 0.582 NaN 0 0 0 0.105934 0 14 186 CDKL1 8814 broad.mit.edu 37 14 50845041 50845041 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:50845041G>A uc010anu.1 - 9 1208 c.1208C>T c.(1207-1209)CCT>CTT p.P403L CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) agggcaataaggttcttgctc 0 NaN 0 0 0 0.020292 0 13 23 ARID4A 5926 broad.mit.edu 37 14 58831244 58831244 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:58831244G>T uc001xdp.2 + 20 2691 c.2437G>T c.(2437-2439)GGC>TGC p.G813C ARID4A_uc001xdo.2_Missense_Mutation_p.G813C|ARID4A_uc001xdq.2_Missense_Mutation_p.G813C|ARID4A_uc010apg.1_Missense_Mutation_p.G491C NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 813 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TTCATCATTTGGCCAGAATGA 0.333 NaN 1 0 2.74318e-10 0.058154 3.07636e-10 8 22 C14orf68 283600 broad.mit.edu 37 14 100795895 100795895 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:100795895C>G uc001yhc.2 + 6 913 c.840C>G c.(838-840)CTC>CTG p.L280L C14orf68_uc001yhd.2_Silent_p.L134L NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 280 Helical; Name=6; (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) GGCTGGTACTCAATTGCTGCC 0.647 NaN 0 0 0 0.045705 0 27 83 CEP152 22995 broad.mit.edu 37 15 49074365 49074365 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:49074365T>C uc001zwy.2 - 11 1418 c.1384A>G c.(1384-1386)ATG>GTG p.M462V CEP152_uc001zwz.2_Missense_Mutation_p.M462V|CEP152_uc001zxa.1_Missense_Mutation_p.M369V NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 462 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTTGCACTCATAGCATGTGCC 0.393 NaN 0 0 0 0.020292 0 10 61 SECISBP2L 9728 broad.mit.edu 37 15 49285034 49285034 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:49285034C>T uc001zxe.1 - 18 2847 c.2713G>A c.(2713-2715)GAA>AAA p.E905K SECISBP2L_uc001zxd.1_Missense_Mutation_p.E860K NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 905 breast(1)|skin(1) 2 CTGGGTTTTTCAGAAGTGCTG 0.433 NaN 0 0 0 0.034045 0 27 95 MYO1E 4643 broad.mit.edu 37 15 59500904 59500904 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:59500904G>A uc002aga.2 - 14 1878 c.1506C>T c.(1504-1506)TTC>TTT p.F502F NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 502 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) GATGAATGATGAAGCCTTGGT 0.453 NaN 0 0 0 0.069234 0 8 150 C15orf42 90381 broad.mit.edu 37 15 90119305 90119305 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:90119305C>T uc002boe.2 + 1 488 c.488C>T c.(487-489)TCG>TTG p.S163L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 163 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGTCCGCACTCGCAGAGGGAG 0.682 NaN 0 0 0 0.009096 0 3 23 SYNM 23336 broad.mit.edu 37 15 99670051 99670051 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:99670051C>G uc002bup.2 + 6 1606 c.1486C>G c.(1486-1488)CTG>GTG p.L496V SYNM_uc002buo.2_Missense_Mutation_p.L496V|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 496 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 GACCGTCATTCTGGGAAAGAA 0.493 NaN 0 0 0 0.004672 0 3 21 C16orf11 146325 broad.mit.edu 37 16 613542 613542 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:613542C>T uc002chk.2 + 2 527 c.248C>T c.(247-249)CCT>CTT p.P83L NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 83 Pro-rich. central_nervous_system(1) 1 TCCACCACGCCTAGGCCCCAC 0.692 NaN 0 0 0 0.014758 0 4 23 TELO2 9894 broad.mit.edu 37 16 1552951 1552951 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:1552951C>T uc002cly.2 + 15 2081 c.1790C>T c.(1789-1791)TCA>TTA p.S597L NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 597 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) TATCTGACCTCACAGTTCTAT 0.657 NaN 0 0 0 0.028581 0 12 137 NTHL1 4913 broad.mit.edu 37 16 2094652 2094652 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:2094652G>C uc002col.1 - 3 547 c.528C>G c.(526-528)ATC>ATG p.I176M NTHL1_uc002com.1_Missense_Mutation_p.I177M NM_002528 NP_002519 P78549 NTHL1_HUMAN nth endonuclease III-like 1 176 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CGACGGGGTAGATGAGCTTGC 0.682 NaN BER_DNA_glycosylases 0 0 0 0.02938 0 5 70 MEFV 4210 broad.mit.edu 37 16 3293384 3293384 + Silent SNP C C T rs104895095 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:3293384C>T uc002cun.1 - 10 2143 c.2103G>A c.(2101-2103)GCG>GCA p.A701A NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 701 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GAACGCTGGACGCCTGGTACT 0.517 NaN 0 0 0 0.024245 0 14 69 ZNF75A 7627 broad.mit.edu 37 16 3367786 3367786 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:3367786G>C uc002cut.3 + 6 1334 c.808G>C c.(808-810)GAG>CAG p.E270Q ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 CCACACAGGTGAGCAGCCATA 0.453 NaN 0 0 0 0.049695 0 17 70 ABCC6 368 broad.mit.edu 37 16 16276399 16276399 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:16276399G>A uc002den.3 - 17 2154 c.2117C>T c.(2116-2118)TCT>TTT p.S706F ABCC6_uc010bvo.2_RNA NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 706 ABC transporter 1.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTCTACCACAGAGGTGTTCTG 0.577 NaN 0 0 0 0.080935 0 10 51 ATP2A1 487 broad.mit.edu 37 16 28913966 28913966 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:28913966C>G uc002dro.1 + 18 2774 c.2590C>G c.(2590-2592)CAT>GAT p.H864D uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.H864D|ATP2A1_uc002drp.1_Missense_Mutation_p.H739D NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 864 Lumenal (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGATGGGCCTCATGTCAACTA 0.652 NaN 0 0 0 0.038395 0 14 54 MAPK3 5595 broad.mit.edu 37 16 30129483 30129483 + Missense_Mutation SNP A A T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:30129483A>T uc002dws.2 - 4 645 c.545T>A c.(544-546)ATT>AAT p.I182N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.I68N|MAPK3_uc002dwv.3_Missense_Mutation_p.I182N|MAPK3_uc002dwt.2_Missense_Mutation_p.I182N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 182 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GAAATCACAAATCTGGAATCA 0.592 NaN 0 0 0 0.038147 0 5 38 ITGAM 3684 broad.mit.edu 37 16 31341460 31341460 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:31341460C>A uc002ebq.2 + 26 3133 c.3035C>A c.(3034-3036)GCT>GAT p.A1012D ITGAM_uc002ebr.2_Missense_Mutation_p.A1013D|ITGAM_uc010can.2_Missense_Mutation_p.A418D NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 1012 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GACTTTCTGGCTGAGCTTCGG 0.597 NaN 1 0 8.12818e-05 0.02938 8.59354e-05 6 22 NOL3 8996 broad.mit.edu 37 16 67208978 67208978 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:67208978G>A uc010vjd.1 + 4 831 c.824G>A c.(823-825)CGG>CAG p.R275Q NOL3_uc010vjc.1_3'UTR|NOL3_uc002erp.2_3'UTR O60936 NOL3_HUMAN RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein; Short=Myp; AltName: Full=Nucleolar protein of 30 kDa; Short=Nop30; 213 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) TCTGACAGGCGGTGCCCCGCC 0.612 NaN 0 0 0 0.069456 0 31 162 NFATC3 4775 broad.mit.edu 37 16 68224692 68224692 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:68224692G>A uc002evo.1 + 9 2330 c.2120G>A c.(2119-2121)AGA>AAA p.R707K NFATC3_uc010vkl.1_Missense_Mutation_p.R228K|NFATC3_uc010vkm.1_Missense_Mutation_p.R228K|NFATC3_uc010vkn.1_Missense_Mutation_p.R228K|NFATC3_uc010vko.1_Missense_Mutation_p.R228K|NFATC3_uc010vkp.1_Missense_Mutation_p.R228K|NFATC3_uc010vkq.1_Missense_Mutation_p.R228K|NFATC3_uc002evl.2_Missense_Mutation_p.R228K|NFATC3_uc002evk.2_Missense_Mutation_p.R707K|NFATC3_uc002evm.1_Missense_Mutation_p.R707K|NFATC3_uc002evn.1_Missense_Mutation_p.R707K|NFATC3_uc010vkr.1_Missense_Mutation_p.R228K|NFATC3_uc010vks.1_Missense_Mutation_p.R228K|NFATC3_uc010vkt.1_Missense_Mutation_p.R228K|NFATC3_uc010vku.1_Missense_Mutation_p.R228K|NFATC3_uc010vkv.1_Missense_Mutation_p.R228K|NFATC3_uc010vkw.1_Missense_Mutation_p.R228K|NFATC3_uc010vkx.1_Missense_Mutation_p.R228K|NFATC3_uc010vky.1_Missense_Mutation_p.R228K|NFATC3_uc010vkz.1_Missense_Mutation_p.R228K|NFATC3_uc010vla.1_Missense_Mutation_p.R228K|NFATC3_uc010vlb.1_Missense_Mutation_p.R228K|NFATC3_uc010vlc.1_Missense_Mutation_p.R228K NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 707 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CAAGAACACAGAGAAGAGATT 0.388 NaN 0 0 0 0.02938 0 6 120 AARS 16 broad.mit.edu 37 16 70299548 70299548 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:70299548G>A uc002eyn.1 - 10 1350 c.1240C>T c.(1240-1242)CTC>TTC p.L414F AARS_uc010vlu.1_Missense_Mutation_p.L244F NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 414 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding p.L414L(1) pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GTGTCATAGAGGAGCCAAGCA 0.507 NaN 0 0 0 0.105934 0 11 21 SF3B3 23450 broad.mit.edu 37 16 70562947 70562947 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:70562947G>A uc002ezf.2 + 3 453 c.242G>A c.(241-243)GGC>GAC p.G81D SNORD111B_uc010cfv.1_5'Flank NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 81 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) ATTGTAGTTGGCAGTGACTCT 0.458 NaN 0 0 0 0.09319 0 12 79 ZC3H18 124245 broad.mit.edu 37 16 88694357 88694357 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:88694357G>C uc002fky.2 + 15 2499 c.2299G>C c.(2299-2301)GAG>CAG p.E767Q ZC3H18_uc010voz.1_Missense_Mutation_p.E791Q|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.E37Q NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 767 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTGTTAAAGAGGAAAAGCG 0.522 NaN 0 0 0 0.024245 0 13 75 SPIRE2 84501 broad.mit.edu 37 16 89925754 89925754 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:89925754G>C uc002foz.1 + 9 1506 c.1454G>C c.(1453-1455)CGA>CCA p.R485P SPIRE2_uc010civ.1_Missense_Mutation_p.R400P|SPIRE2_uc010ciw.1_Missense_Mutation_p.R485P|SPIRE2_uc002fpa.1_Missense_Mutation_p.R437P|SPIRE2_uc010cix.1_Missense_Mutation_p.R352P NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 485 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCCGGCTCCCGAGACCAGGGC 0.697 NaN 0 0 0 0.004672 0 2 14 KIAA0664 23277 broad.mit.edu 37 17 2601720 2601720 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:2601720G>A uc002fuy.1 - 10 1403 c.1317C>T c.(1315-1317)TTC>TTT p.F439F KIAA0664_uc002fux.1_Silent_p.F371F NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 439 binding breast(2) 2 CGTCCCCCCCGAAGTCCTTGT 0.622 NaN 0 0 0 0.105934 0 11 17 KIAA0664 23277 broad.mit.edu 37 17 2603983 2603983 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:2603983T>C uc002fuy.1 - 8 1134 c.1048A>G c.(1048-1050)ATT>GTT p.I350V KIAA0664_uc002fux.1_Missense_Mutation_p.I282V NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 350 binding breast(2) 2 TGTCCAGGAATGTGCTCCTCA 0.662 NaN 0 0 0 0.014758 0 4 35 ABHD15 116236 broad.mit.edu 37 17 27889911 27889911 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:27889911C>T uc002hed.1 - 2 1139 c.1075G>A c.(1075-1077)GAC>AAC p.D359N NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 precursor 359 extracellular region carboxylesterase activity 0 ACGGGGTCGTCAGCACTGCAG 0.602 NaN 0 0 0 0.058154 0 9 69 SUZ12 23512 broad.mit.edu 37 17 30315444 30315444 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:30315444C>T uc002hgs.2 + 10 1351 c.1129C>T c.(1129-1131)CTT>TTT p.L377F SUZ12_uc002hgt.2_Missense_Mutation_p.L354F NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 377 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TGCCAAACCTCTTGCCACTAG 0.413 NaN T JAZF1 endometrial stromal tumours 0 0 0 0.047766 0 8 41 POLG2 11232 broad.mit.edu 37 17 62486958 62486958 + Missense_Mutation SNP A A C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:62486958A>C uc002jei.2 - 4 1007 c.924T>G c.(922-924)GAT>GAG p.D308E POLG2_uc010deg.1_Missense_Mutation_p.D308E NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 308 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) AAAGTTCGTGATCTCCTAGGT 0.393 NaN 0 0 0 0.069234 0 9 101 RGS9 8787 broad.mit.edu 37 17 63173909 63173909 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:63173909C>G uc002jfe.2 + 9 752 c.642C>G c.(640-642)GTC>GTG p.V214V RGS9_uc010dem.2_Silent_p.V214V|RGS9_uc002jfd.2_Silent_p.V214V|RGS9_uc002jff.2_RNA NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 214 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CGAATGAAGTCAAGGTAAACC 0.493 NaN 0 0 0 0.064281 0 33 130 BPTF 2186 broad.mit.edu 37 17 65907091 65907091 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:65907091C>A uc002jgf.2 + 11 3152 c.3091C>A c.(3091-3093)CAG>AAG p.Q1031K BPTF_uc002jge.2_Missense_Mutation_p.Q1157K NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1157 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTAAATTGTCAGGAGAGTTC 0.383 NaN 1 0 0.000274275 0.047766 0.000287781 9 62 TTYH2 94015 broad.mit.edu 37 17 72233573 72233573 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:72233573C>G uc002jkc.2 + 4 586 c.555C>G c.(553-555)CTC>CTG p.L185L TTYH2_uc010wqw.1_Silent_p.L164L NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 185 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 TTGTTCAGCTCTCAGGACTGC 0.602 NaN 0 0 0 0.038147 0 6 83 TMEM104 54868 broad.mit.edu 37 17 72781647 72781647 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:72781647C>T uc002jls.3 + 3 234 c.72C>T c.(70-72)CTC>CTT p.L24L TMEM104_uc010wrf.1_Silent_p.L24L|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.L24L NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 24 Helical; (Potential). integral to membrane 0 all_lung(278;0.23) TGTTTAACCTCATCGTGGGCA 0.572 NaN 0 0 0 0.069288 0 21 195 TSEN54 283989 broad.mit.edu 37 17 73512921 73512921 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:73512921C>T uc002jof.1 + 2 184 c.151C>T c.(151-153)CAG>TAG p.Q51* CASKIN2_uc002joc.2_5'Flank|CASKIN2_uc002jod.2_5'Flank|TSEN54_uc002joe.1_Nonsense_Mutation_p.Q51* NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN tRNA splicing endonuclease 54 homolog 51 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCGGCAGCTCAGGCCGAGCG 0.736 NaN 0 0 0 0.004672 0 3 15 METRNL 284207 broad.mit.edu 37 17 81052039 81052039 + Missense_Mutation SNP G G A rs147805686 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:81052039G>A uc002kgh.2 + 4 780 c.655G>A c.(655-657)GAG>AAG p.E219K METRNL_uc002kgi.2_Missense_Mutation_p.E137K NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 219 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) CCACGAGCCTGAGCGGCAGGA 0.637 NaN 0 0 0 0.021553 0 4 167 ZNF521 25925 broad.mit.edu 37 18 22807156 22807156 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:22807156C>T uc002kvk.2 - 4 973 c.726G>A c.(724-726)ATG>ATA p.M242I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M242I|ZNF521_uc002kvl.2_Missense_Mutation_p.M22I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 242 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTGTCCTTCATCTTCCAGT 0.527 NaN T PAX5 ALL 0 0 0 0.024245 0 16 59 DSG1 1828 broad.mit.edu 37 18 28908201 28908201 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:28908201G>C uc002kwp.2 + 4 478 c.266G>C c.(265-267)GGA>GCA p.G89A NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 89 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CGCATCTCTGGAGTAGGAATT 0.388 NaN 0 0 0 0.0333 0 15 65 RTTN 25914 broad.mit.edu 37 18 67816249 67816249 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:67816249G>C uc002lkp.2 - 17 2265 c.2197C>G c.(2197-2199)CTG>GTG p.L733V RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 733 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAGTTACCCAGAGGATCTTCT 0.368 NaN 0 0 0 0.076483 0 19 91 MYO1F 4542 broad.mit.edu 37 19 8617036 8617036 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:8617036C>G uc002mkg.2 - 7 631 c.517G>C c.(517-519)GAG>CAG p.E173Q MYO1F_uc002mkh.2_Missense_Mutation_p.E173Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E173Q NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 173 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AACTGGATCTCAAAGTACTTG 0.557 NaN 0 0 0 0.058154 0 7 125 LDLR 3949 broad.mit.edu 37 19 11213402 11213402 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:11213402C>T uc002mqk.3 + 3 421 c.253C>T c.(253-255)CAG>TAG p.Q85* LDLR_uc010xlk.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xlo.1_Nonsense_Mutation_p.Q85* NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 85 Extracellular (Potential).|LDL-receptor class A 2. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CTGCATTCCTCAGTTCTGGAG 0.547 NaN 0 0 0 0.041601 0 27 125 ZFP30 22835 broad.mit.edu 37 19 38126225 38126225 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:38126225C>T uc002ogv.1 - 6 1733 c.1217G>A c.(1216-1218)GGA>GAA p.G406E ZFP30_uc002ogw.1_Missense_Mutation_p.G406E|ZFP30_uc002ogx.1_Missense_Mutation_p.G406E|ZFP30_uc010xtt.1_Missense_Mutation_p.G405E NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGTTTCTCTCCAATGTGAAT 0.388 NaN 0 0 0 0.069234 0 8 47 ZNF781 163115 broad.mit.edu 37 19 38160986 38160986 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:38160986G>C uc002ogy.2 - 4 806 c.64C>G c.(64-66)CAA>GAA p.Q22E ZNF781_uc002ogz.2_Missense_Mutation_p.Q17E NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTGATATTGAGTTAGTTGA 0.343 NaN 0 0 0 0.043863 0 17 123 ZNF233 353355 broad.mit.edu 37 19 44778410 44778410 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:44778410G>C uc002oyz.1 + 5 1724 c.1597G>C c.(1597-1599)GAG>CAG p.E533Q ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E348Q NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) TCACAAAGGAGAGAAGCCATA 0.468 NaN 0 0 0 0.069234 0 8 59 ZNF233 353355 broad.mit.edu 37 19 44778580 44778580 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:44778580G>C uc002oyz.1 + 5 1894 c.1767G>C c.(1765-1767)GAG>GAC p.E589D ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E404D NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) ACACAGGAGAGAAACCATACA 0.438 NaN 0 0 0 0.004672 0 3 103 MYH14 79784 broad.mit.edu 37 19 50764812 50764812 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:50764812G>T uc002prr.1 + 19 2429 c.2382G>T c.(2380-2382)CAG>CAT p.Q794H MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 794 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCCTGGCCCAGCTGGAAGAGG 0.647 NaN 1 0 2.0095e-06 0.02938 2.18287e-06 6 37 ZIK1 284307 broad.mit.edu 37 19 58101415 58101415 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:58101415C>T uc002qpg.2 + 4 333 c.236C>T c.(235-237)TCT>TTT p.S79F ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.S24F|ZIK1_uc002qpi.2_Missense_Mutation_p.S66F|ZIK1_uc002qpj.2_5'UTR NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGACACCTTCTGACCAGAAT 0.458 NaN 0 0 0 0.047766 0 8 45 GRHL1 29841 broad.mit.edu 37 2 10136044 10136044 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:10136044G>A uc002raa.2 + 13 1708 c.1537G>A c.(1537-1539)GAC>AAC p.D513N GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D324N|GRHL1_uc010yjb.1_Missense_Mutation_p.D362N NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 513 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CACAGAAGATGACTTTGCTGT 0.458 NaN 0 0 0 0.064281 0 30 202 PLB1 151056 broad.mit.edu 37 2 28801013 28801013 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:28801013G>A uc002rmb.1 + 22 1473 c.1473G>A c.(1471-1473)ATG>ATA p.M491I PLB1_uc010ezj.1_Missense_Mutation_p.M502I|PLB1_uc002rmc.2_Missense_Mutation_p.M179I|PLB1_uc002rmd.1_Missense_Mutation_p.M1I NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 491 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) TGGACCTGATGAAGAATGACA 0.582 NaN 0 0 0 0.014758 0 4 58 XDH 7498 broad.mit.edu 37 2 31572693 31572693 + Missense_Mutation SNP C C T rs138396004 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:31572693C>T uc002rnv.1 - 26 2907 c.2828G>A c.(2827-2829)CGG>CAG p.R943Q NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 943 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTTTTTTCTCCGCACCTTCCC 0.542 NaN 0 0 0 0.014758 0 4 54 DYNC2LI1 51626 broad.mit.edu 37 2 44036863 44036863 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036863G>C uc002rtk.2 + 13 1109 c.1013G>C c.(1012-1014)AGA>ACA p.R338T DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R339T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.R212T NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 338 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAGTACAAAAGAAGTTCTTCC 0.284 NaN 0 0 0 0.058154 0 5 22 DYNC2LI1 51626 broad.mit.edu 37 2 44036898 44036898 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036898G>C uc002rtk.2 + 13 1144 c.1048G>C c.(1048-1050)GAT>CAT p.D350H DYNC2LI1_uc002rtl.2_Missense_Mutation_p.D351H|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.D224H NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 350 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AATCGAGCTTGATTCTTGAAC 0.269 NaN 0 0 0 0.02938 0 3 13 DYNC2LI1 51626 broad.mit.edu 37 2 44036905 44036905 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036905G>A uc002rtk.2 + 13 1151 c.1055G>A c.(1054-1056)TGA>TAA p.*352* DYNC2LI1_uc002rtl.2_Silent_p.*353*|DYNC2LI1_uc010ynz.1_Silent_p.*226* NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 352 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTTGATTCTTGAACCTATTTC 0.274 NaN 0 0 0 0.02938 0 4 13 ABCG5 64240 broad.mit.edu 37 2 44040419 44040419 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44040419G>A uc002rtn.2 - 13 1932 c.1792C>T c.(1792-1794)CCA>TCA p.P598S ABCG5_uc002rtm.2_Missense_Mutation_p.P203S|ABCG5_uc002rto.2_Missense_Mutation_p.P427S|ABCG5_uc002rtp.2_Missense_Mutation_p.P203S NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 598 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCACACATTGGATTAGTTGTC 0.338 NaN 0 0 0 0.080935 0 9 29 SPTBN1 6711 broad.mit.edu 37 2 54876994 54876994 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:54876994G>A uc002rxu.2 + 26 5694 c.5445G>A c.(5443-5445)AAG>AAA p.K1815K SPTBN1_uc002rxx.2_Silent_p.K1802K|SPTBN1_uc002rxy.2_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1815 Interaction with ANK2.|Spectrin 15. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) ACGATGCCAAGGAGATCTTTG 0.493 NaN 0 0 0 0.080935 0 11 51 RAB11FIP5 26056 broad.mit.edu 37 2 73315528 73315528 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:73315528C>G uc002siu.3 - 3 1459 c.1218G>C c.(1216-1218)CTG>CTC p.L406L RAB11FIP5_uc002sit.3_Silent_p.L328L NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 406 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CCTGAGCACTCAGCTCCTCCT 0.657 NaN 0 0 0 0.028581 0 14 53 VWA3B 200403 broad.mit.edu 37 2 98744726 98744726 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:98744726G>A uc002syo.2 + 6 991 c.727G>A c.(727-729)GTG>ATG p.V243M VWA3B_uc010yvh.1_Missense_Mutation_p.V93M|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V243M|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 243 ovary(3)|large_intestine(2)|skin(1) 6 CTACTTTGTGGTGGGGGATGT 0.498 NaN 0 0 0 0.045705 0 31 106 TUBA3E 112714 broad.mit.edu 37 2 130951802 130951802 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:130951802C>T uc002tqv.2 - 4 714 c.613G>A c.(613-615)GAC>AAC p.D205N NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 205 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GCTTCATTGTCGACCATGAAG 0.552 NaN 0 0 0 0.09319 0 9 62 LOC150786 150786 broad.mit.edu 37 2 132120876 132120876 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:132120876C>G uc002tsr.2 - 1 856 c.418G>C c.(418-420)GAG>CAG p.E140Q NM_001077637 NP_001071105 Q53S08 Q53S08_HUMAN RAB6C-like 140 protein transport|small GTPase mediated signal transduction GTP binding 0 BRCA - Breast invasive adenocarcinoma(221;0.078) CTCTCTCCCTCCTCAATTGAC 0.438 NaN 0 0 0 0.058154 0 9 231 TUBA3D 113457 broad.mit.edu 37 2 132237879 132237879 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:132237879G>A uc002tsu.3 + 4 720 c.613G>A c.(613-615)GAC>AAC p.D205N NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 205 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CTTCATGGTCGACAATGAAGC 0.557 NaN 0 0 0 0.055883 0 8 130 SCN1A 6323 broad.mit.edu 37 2 166848189 166848189 + Missense_Mutation SNP C C A rs121918815 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:166848189C>A uc010zcz.1 - 26 5581 c.5563G>T c.(5563-5565)GAT>TAT p.D1855Y NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1866 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) AATAAGATATCAAGACAGTGG 0.483 NaN 1 0 2.17888e-05 0.058154 2.3303e-05 10 79 PHOSPHO2 493911 broad.mit.edu 37 2 170557854 170557854 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:170557854C>T uc002ufg.2 + 4 761 c.373C>T c.(373-375)CCA>TCA p.P125S KLHL23_uc002ufh.1_Intron NM_001008489 NP_001008489 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 125 metal ion binding|pyridoxal phosphatase activity skin(1) 1 GTTTACAAATCCAGCAGCTTT 0.323 NaN 0 0 0 0.02938 0 6 34 GAD1 2571 broad.mit.edu 37 2 171710417 171710417 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:171710417G>C uc002ugi.2 + 14 1720 c.1298G>C c.(1297-1299)GGA>GCA p.G433A GAD1_uc010fqc.2_Missense_Mutation_p.G52A NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 433 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATGTGTGCAGGATACCTCTTC 0.483 NaN 0 0 0 0.038147 0 6 120 TTN 7273 broad.mit.edu 37 2 179575377 179575377 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:179575377G>A uc010zfg.1 - 95 24939 c.24715C>T c.(24715-24717)CAG>TAG p.Q8239* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q4900* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9166 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) ATATTCAGCTGAGCTGTGCAA 0.398 NaN 0 0 0 0.080935 0 10 110 FRZB 2487 broad.mit.edu 37 2 183703267 183703267 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:183703267G>C uc002upa.1 - 4 885 c.667C>G c.(667-669)CTA>GTA p.L223V NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 223 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GAGGACTTTAGAATCTCCTTC 0.433 NaN 0 0 0 0.069288 0 21 99 COL5A2 1290 broad.mit.edu 37 2 189909924 189909924 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:189909924G>C uc002uqk.2 - 47 3619 c.3344C>G c.(3343-3345)GCT>GGT p.A1115G COL5A2_uc010frx.2_Missense_Mutation_p.A691G NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1115 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACGTTTCCCAGCTCGACCAGG 0.299 NaN 0 0 0 0.047766 0 5 27 ORMDL1 94101 broad.mit.edu 37 2 190640311 190640311 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:190640311G>A uc002urb.3 - 2 1093 c.306C>T c.(304-306)TTC>TTT p.F102F ORMDL1_uc002urc.3_Silent_p.F102F|ORMDL1_uc002urd.3_Silent_p.F102F|ORMDL1_uc002ure.3_Silent_p.F102F|ORMDL1_uc002urf.3_Silent_p.F102F NM_016467 NP_057551 Q9P0S3 ORML1_HUMAN ORM1-like 1 102 Helical; (Potential). ceramide metabolic process endoplasmic reticulum membrane|integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) GAGAAATTGTGAAAAACTTCC 0.383 NaN 0 0 0 0.014758 0 4 34 SGOL2 151246 broad.mit.edu 37 2 201400832 201400832 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:201400832G>C uc002uvw.2 + 4 467 c.354G>C c.(352-354)TTG>TTC p.L118F SGOL2_uc002uvv.3_Missense_Mutation_p.L118F|SGOL2_uc010zhd.1_Missense_Mutation_p.L118F|SGOL2_uc010zhe.1_Missense_Mutation_p.L118F NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 118 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 ACAATAACTTGATAACTGCAA 0.294 NaN 0 0 0 0.038147 0 8 82 GIGYF2 26058 broad.mit.edu 37 2 233655998 233655998 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:233655998C>A uc002vti.3 + 14 1461 c.1124C>A c.(1123-1125)TCA>TAA p.S375* GIGYF2_uc010zmj.1_Nonsense_Mutation_p.S375*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.S369*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.S396*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.S375*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.S369*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.S206* NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 375 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CAGACCTCATCATCATCTGCT 0.428 NaN 1 0 0.00074312 0.038395 0.000773851 14 62 TBC1D20 128637 broad.mit.edu 37 20 422526 422526 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:422526C>A uc002wds.2 - 4 637 c.499G>T c.(499-501)GAA>TAA p.E167* TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 167 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) GATAATTTTTCTACCAGGGAT 0.537 NaN 1 0 1.33987e-11 0.069234 1.51487e-11 6 92 SLC4A11 83959 broad.mit.edu 37 20 3211823 3211823 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:3211823G>T uc002wig.2 - 8 1110 c.1062C>A c.(1060-1062)TTC>TTA p.F354L SLC4A11_uc010zqe.1_Missense_Mutation_p.F381L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F338L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 354 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GGTACAAGGGGAACCTGCGTG 0.602 NaN 1 0 1.5739e-10 0.028581 1.77223e-10 13 128 GGTLC1 92086 broad.mit.edu 37 20 23966391 23966391 + Silent SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:23966391G>T uc002wts.2 - 5 577 c.444C>A c.(442-444)GGC>GGA p.G148G GGTLC1_uc002wtu.2_Silent_p.G148G NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 148 gamma-glutamyltransferase activity ovary(1) 1 TCACGTCATAGCCGAACCAGA 0.612 NaN 1 0 4.45325e-31 0.048971 5.1613e-31 55 129 TTLL9 164395 broad.mit.edu 37 20 30525290 30525290 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:30525290C>A uc010gdx.1 + 13 1349 c.1096C>A c.(1096-1098)CAT>AAT p.H366N TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.H268N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 366 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGACACCCTGCATGTTGTGGA 0.567 NaN 1 0 5.50884e-06 0.09319 5.93754e-06 11 40 MYH7B 57644 broad.mit.edu 37 20 33586326 33586326 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:33586326G>C uc002xbi.1 + 32 4105 c.4013G>C c.(4012-4014)CGC>CCC p.R1338P NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1296 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGCTGAGTCGCCTGCTAGAG 0.642 NaN 0 0 0 0.014758 0 4 43 BPI 671 broad.mit.edu 37 20 36959492 36959492 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:36959492G>A uc002xib.2 + 12 1346 c.1284G>A c.(1282-1284)CCG>CCA p.P428P NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 428 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GCCCCTTCCCGGTGAGTCTGA 0.572 NaN 0 0 0 0.047766 0 9 95 RALGAPB 57148 broad.mit.edu 37 20 37182516 37182516 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:37182516G>C uc002xiw.2 + 22 3426 c.3169G>C c.(3169-3171)GAG>CAG p.E1057Q RALGAPB_uc002xix.2_Missense_Mutation_p.E1053Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E835Q NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1057 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 ACAGTTAGAAGAGAGACACGA 0.313 NaN 0 0 0 0.038147 0 7 20 RALGAPB 57148 broad.mit.edu 37 20 37182716 37182716 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:37182716G>A uc002xiw.2 + 22 3626 c.3369G>A c.(3367-3369)CTG>CTA p.L1123L RALGAPB_uc002xix.2_Silent_p.L1119L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Silent_p.L901L NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1123 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TAGAAGCACTGAAGGTAATTT 0.383 NaN 0 0 0 0.041601 0 25 69 RBPJL 11317 broad.mit.edu 37 20 43940280 43940280 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:43940280G>A uc002xns.2 + 4 381 c.309G>A c.(307-309)GTG>GTA p.V103V RBPJL_uc002xnt.2_Silent_p.V103V NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 103 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCTGGAGGGTGAAGCCAGGGC 0.642 NaN OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.030593 0 26 37 ADRM1 11047 broad.mit.edu 37 20 60878630 60878630 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:60878630G>A uc002ycn.2 + 2 86 c.6G>A c.(4-6)ACG>ACA p.T2T ADRM1_uc011aai.1_Silent_p.T2T|ADRM1_uc002yco.2_Silent_p.T2T|ADRM1_uc002ycp.1_5'Flank NM_007002 NP_008933 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 precursor 2 Interaction with PSMD1. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) TCAGGATGACGACCTCAGGCG 0.667 NaN 0 0 0 0.058154 0 9 108 TIAM1 7074 broad.mit.edu 37 21 32617837 32617837 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:32617837G>A uc002yow.1 - 7 2023 c.1551C>T c.(1549-1551)CTC>CTT p.L517L TIAM1_uc011adk.1_Silent_p.L517L|TIAM1_uc011adl.1_Silent_p.L517L|TIAM1_uc002yox.1_Silent_p.L125L NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 517 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GGGAATTGCTGAGGCAGAAGA 0.522 NaN 0 0 0 0.09319 0 11 32 PCNT 5116 broad.mit.edu 37 21 47850003 47850003 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47850003G>A uc002zji.3 + 36 7877 c.7770G>A c.(7768-7770)GAG>GAA p.E2590E PCNT_uc002zjj.2_Silent_p.E2472E NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2590 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AAGAGCAAGAGAAGGCAAACA 0.512 NaN 0 0 0 0.09319 0 11 37 PCNT 5116 broad.mit.edu 37 21 47851509 47851509 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47851509G>A uc002zji.3 + 38 8238 c.8131G>A c.(8131-8133)GAG>AAG p.E2711K PCNT_uc002zjj.2_Missense_Mutation_p.E2593K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2711 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) ACTGAAACACGAGCAGACGGC 0.597 NaN 0 0 0 0.09319 0 12 55 PCNT 5116 broad.mit.edu 37 21 47851760 47851760 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47851760G>A uc002zji.3 + 38 8489 c.8382G>A c.(8380-8382)CTG>CTA p.L2794L PCNT_uc002zjj.2_Silent_p.L2676L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2794 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGCAGAAGCTGAAGGAGGAGA 0.612 NaN 0 0 0 0.069234 0 7 35 SLC25A1 6576 broad.mit.edu 37 22 19164697 19164697 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:19164697C>G uc002zoz.2 - 5 577 c.462G>C c.(460-462)CAG>CAC p.Q154H SLC25A1_uc002zoy.2_Missense_Mutation_p.Q51H|SLC25A1_uc002zpa.2_Missense_Mutation_p.Q102H NM_005984 NP_005975 P53007 TXTP_HUMAN solute carrier family 25 (mitochondrial carrier; 154 Solcar 2. gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process integral to membrane|mitochondrial inner membrane citrate transmembrane transporter activity|protein binding 0 Colorectal(54;0.0993) all_lung(157;9.94e-09) Lung(27;0.124) TTGGGGAGGTCTGGTCGTGGA 0.602 NaN 0 0 0 0.105934 0 12 33 MTMR3 8897 broad.mit.edu 37 22 30403279 30403279 + Missense_Mutation SNP A A G rs138787389 byFrequency TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:30403279A>G uc003agv.3 + 10 1176 c.848A>G c.(847-849)AAT>AGT p.N283S MTMR3_uc003agu.3_Missense_Mutation_p.N283S|MTMR3_uc003agw.3_Missense_Mutation_p.N283S NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 283 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GACTTTCCCAATGGGGGAGAC 0.493 NaN 0 0 0 0.105934 0 10 42 OSM 5008 broad.mit.edu 37 22 30659990 30659990 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:30659990T>C uc003ahb.2 - 3 693 c.641A>G c.(640-642)GAG>GGG p.E214G NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 214 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) GTTCGGGCTCTCCCCCCACTT 0.642 NaN 0 0 0 0.009096 0 4 66 BRD1 23774 broad.mit.edu 37 22 50192221 50192221 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:50192221G>A uc003biv.2 - 4 2257 c.1770C>T c.(1768-1770)CCC>CCT p.P590P BRD1_uc011arf.1_Silent_p.P185P|BRD1_uc011arg.1_Silent_p.P644P|BRD1_uc011arh.1_Silent_p.P590P|BRD1_uc003biu.3_Silent_p.P590P NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 590 Bromo. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCAGACTCACGGGCTGCGCAA 0.622 NaN 0 0 0 0.0333 0 14 70 SETD5 55209 broad.mit.edu 37 3 9482170 9482170 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:9482170G>A uc003brt.2 + 8 1033 c.598G>A c.(598-600)GAG>AAG p.E200K SETD5_uc003brs.1_Missense_Mutation_p.E181K|SETD5_uc003bru.2_Missense_Mutation_p.E102K|SETD5_uc003brv.2_Missense_Mutation_p.E89K|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 200 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAATTTAGATGAGAATACAAC 0.433 NaN 0 0 0 0.02938 0 7 18 WNT7A 7476 broad.mit.edu 37 3 13916516 13916516 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:13916516G>A uc003bye.1 - 2 531 c.226C>T c.(226-228)CAG>TAG p.Q76* NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 76 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 TTGCGGAACTGAAACTGACAC 0.617 NaN 0 0 0 0.058154 0 9 59 ZNF660 285349 broad.mit.edu 37 3 44636265 44636265 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:44636265G>C uc003cnl.1 + 3 913 c.580G>C c.(580-582)GAG>CAG p.E194Q NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 194 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CAAATGTAAGGAGTGTGGGAA 0.393 NaN 0 0 0 0.020292 0 14 56 TGM4 7047 broad.mit.edu 37 3 44943347 44943347 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:44943347G>C uc003coc.3 + 8 968 c.895G>C c.(895-897)GAA>CAA p.E299Q NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 299 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TCACGACACAGAAAGGAACCT 0.542 NaN 0 0 0 0.080935 0 11 57 AMIGO3 386724 broad.mit.edu 37 3 49756011 49756011 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:49756011C>T uc003cxj.2 - 1 1228 c.888G>A c.(886-888)CTG>CTA p.L296L RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 296 Extracellular (Potential).|Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTAAAGCCTCAGGGACCGAC 0.652 NaN 0 0 0 0.014758 0 5 22 AMIGO3 386724 broad.mit.edu 37 3 49756493 49756494 + Missense_Mutation DNP CC CC TT TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:49756493_49756494CC>TT uc003cxj.2 - 1 745_746 c.405_406GG>AA c.(403-408)CTGGAG>CTAAAG p.E136K RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 136 Extracellular (Potential).|LRR 4. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGCAGCTTCTCCAGCGCCCCCA 0.634 NaN OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 25 85 PROS1 5627 broad.mit.edu 37 3 93611862 93611862 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:93611862C>A uc003drb.3 - 10 1411 c.1070G>T c.(1069-1071)GGA>GTA p.G357V PROS1_uc010hoo.2_Missense_Mutation_p.G226V|PROS1_uc003dqz.3_Missense_Mutation_p.G226V NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 357 Laminin G-like 1. G -> R (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCAATCTTTCCACCACGAAG 0.403 NaN 1 0 0.00198382 0.02938 0.00205044 7 66 C3orf26 84319 broad.mit.edu 37 3 99881261 99881261 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:99881261G>A uc003dtl.2 + 4 483 c.340G>A c.(340-342)GAA>AAA p.E114K NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 114 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 TGAATTAGAAGAACTGAACCT 0.408 NaN 0 0 0 0.047766 0 7 30 HHLA2 11148 broad.mit.edu 37 3 108076964 108076964 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:108076964C>G uc003dwy.3 + 6 1126 c.959C>G c.(958-960)TCT>TGT p.S320C HHLA2_uc011bhl.1_Missense_Mutation_p.S256C|HHLA2_uc010hpu.2_Missense_Mutation_p.S320C|HHLA2_uc003dwz.2_Missense_Mutation_p.S320C NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 320 Ig-like V-type 2. integral to membrane ovary(1) 1 TGCAATATTTCTTCGGATGAA 0.378 NaN 0 0 0 0.004672 0 3 63 CASR 846 broad.mit.edu 37 3 121980624 121980624 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:121980624G>A uc003eev.3 + 4 1114 c.742G>A c.(742-744)GAT>AAT p.D248N CASR_uc003eew.3_Missense_Mutation_p.D248N NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 248 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAGTACTCTGATGAGGAAGA 0.502 NaN 0 0 0 0.038147 0 5 207 SEMA5B 54437 broad.mit.edu 37 3 122667459 122667459 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:122667459G>A uc003efz.1 - 3 526 c.222C>T c.(220-222)CTC>CTT p.L74L SEMA5B_uc011bju.1_Silent_p.L16L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L74L|SEMA5B_uc010hro.1_Silent_p.L16L|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 74 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CCAGCAGTGTGAGGCTGGGCA 0.647 NaN 0 0 0 0.069234 0 10 29 PLXND1 23129 broad.mit.edu 37 3 129290522 129290522 + Silent SNP G G C rs111780083 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:129290522G>C uc003emx.2 - 16 3343 c.3243C>G c.(3241-3243)GTC>GTG p.V1081V NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1081 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGTCTCACCTGACAGGGCTGC 0.657 NaN 0 0 0 0.076483 0 19 95 DBR1 51163 broad.mit.edu 37 3 137888979 137888979 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:137888979C>G uc003erv.2 - 4 595 c.459G>C c.(457-459)GTG>GTC p.V153V DBR1_uc003eru.2_Silent_p.V102V NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 153 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 CAATATTTCTCACATGATATA 0.299 NaN 0 0 0 0.09319 0 12 77 YEATS2 55689 broad.mit.edu 37 3 183442274 183442274 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:183442274C>T uc003fly.2 + 6 800 c.605C>T c.(604-606)TCA>TTA p.S202L NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 202 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GATGAGACTTCACGACTTTTT 0.343 NaN 0 0 0 0.021553 0 6 39 MFSD10 10227 broad.mit.edu 37 4 2934873 2934873 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:2934873G>C uc003gfw.2 - 3 646 c.332C>G c.(331-333)TCT>TGT p.S111C MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Missense_Mutation_p.S111C|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.S111C|MFSD10_uc003ggb.1_Missense_Mutation_p.S111C|MFSD10_uc003ggc.2_Missense_Mutation_p.S111C|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 111 apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CAAGCAGTCAGAGGTGGCCCC 0.632 NaN 0 0 0 0.038147 0 5 28 MFSD10 10227 broad.mit.edu 37 4 2934901 2934901 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:2934901G>A uc003gfw.2 - 3 618 c.304C>T c.(304-306)CTG>TTG p.L102L MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.L102L|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.L102L|MFSD10_uc003ggb.1_Silent_p.L102L|MFSD10_uc003ggc.2_Silent_p.L102L|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 102 Helical; (Potential). apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCGCACACAGAAACTGCAGG 0.617 NaN 0 0 0 0.009096 0 3 31 SHISA3 152573 broad.mit.edu 37 4 42403249 42403249 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:42403249G>C uc003gwp.2 + 2 716 c.498G>C c.(496-498)ACG>ACC p.T166T NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 166 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 GCACAGCCACGAGCTCCAGCT 0.672 NaN 0 0 0 0.028581 0 16 116 FAT4 79633 broad.mit.edu 37 4 126237764 126237764 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:126237764G>C uc003ifj.3 + 1 198 c.198G>C c.(196-198)ACG>ACC p.T66T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 66 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCATCCAGACGCGCCCCGGCT 0.647 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014758 0 4 30 TAS2R1 50834 broad.mit.edu 37 5 9629539 9629539 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:9629539C>T uc003jem.1 - 1 925 c.606G>A c.(604-606)GGG>GGA p.G202G NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 202 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GGGTGTGCCTCCCCAGAGAGA 0.502 NaN 0 0 0 0.069234 0 10 31 UGT3A2 167127 broad.mit.edu 37 5 36049133 36049133 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:36049133C>G uc003jjz.1 - 4 794 c.701G>C c.(700-702)AGG>ACG p.R234T UGT3A2_uc011cos.1_Missense_Mutation_p.R200T|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 234 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAACTGGCCTAGAGCCTTC 0.418 NaN 0 0 0 0.0918 0 22 83 UGT3A2 167127 broad.mit.edu 37 5 36049523 36049523 + Splice_Site SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:36049523C>T uc003jjz.1 - 4 405 c.312_splice c.e4-1 p.R104_splice UGT3A2_uc011cos.1_Splice_Site_p.R70_splice|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATTTTCCTCTGTAAGAAAA 0.284 NaN 0 0 0 0.014758 0 5 22 HCN1 348980 broad.mit.edu 37 5 45303768 45303768 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:45303768G>A uc003jok.2 - 6 1576 c.1551C>T c.(1549-1551)CAC>CAT p.H517H NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 517 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAGCAACACCGTGTTGAATGA 0.388 NaN 0 0 0 0.02938 0 7 69 ITGA2 3673 broad.mit.edu 37 5 52361774 52361774 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:52361774C>T uc003joy.2 + 15 2053 c.1910C>T c.(1909-1911)TCT>TTT p.S637F ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S561F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 637 FG-GAP 7.|Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) ACCGATGTGTCTATTGGTGCC 0.458 NaN 0 0 0 0.108266 0 21 91 APC 324 broad.mit.edu 37 5 112176224 112176224 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:112176224G>C uc010jby.2 + 16 5313 c.4933G>C c.(4933-4935)GAA>CAA p.E1645Q APC_uc011cvt.1_Missense_Mutation_p.E1627Q|APC_uc003kpz.3_Missense_Mutation_p.E1645Q|APC_uc003kpy.3_Missense_Mutation_p.E1645Q|APC_uc010jbz.2_Missense_Mutation_p.E1362Q|APC_uc010jca.2_Missense_Mutation_p.E945Q NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1645 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1645Q(1)|p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GTATTGTGTTGAAGGGACACC 0.453 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 0 0 0 0.004672 0 3 73 GRAMD3 65983 broad.mit.edu 37 5 125813438 125813438 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:125813438C>A uc003ktu.2 + 6 971 c.541C>A c.(541-543)CTA>ATA p.L181I GRAMD3_uc011cwt.1_Missense_Mutation_p.L196I|GRAMD3_uc011cwv.1_Missense_Mutation_p.L189I|GRAMD3_uc011cww.1_Missense_Mutation_p.L77I|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.L72I|GRAMD3_uc011cwz.1_Missense_Mutation_p.L165I|GRAMD3_uc011cwu.1_Missense_Mutation_p.L165I NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 181 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) AACTGCTCTTCTAGTGCCAAA 0.478 NaN 1 0 3.28513e-13 0.0918 3.76025e-13 21 68 GDF9 2661 broad.mit.edu 37 5 132198223 132198223 + Silent SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:132198223T>C uc003kxz.1 - 2 675 c.423A>G c.(421-423)CTA>CTG p.L141L GDF9_uc011cxj.1_Silent_p.L53L NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 141 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGGTTAAATAGCAGTTCCA 0.383 NaN 0 0 0 0.069234 0 11 29 SEC24A 10802 broad.mit.edu 37 5 134023941 134023941 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:134023941C>T uc003kzs.2 + 11 1963 c.1675C>T c.(1675-1677)CAG>TAG p.Q559* SEC24A_uc011cxu.1_Nonsense_Mutation_p.Q323* NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 559 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTACGGTCTTCAGGAAAGTCT 0.313 NaN 0 0 0 0.024245 0 13 41 PCDHA2 56146 broad.mit.edu 37 5 140175188 140175188 + Silent SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140175188G>T uc003lhd.2 + 1 745 c.639G>T c.(637-639)GTG>GTT p.V213V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.V213V|PCDHA2_uc011czy.1_Silent_p.V213V NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 213 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTACTGGTGGCTACTGATG 0.428 NaN 1 0 7.92952e-12 0.0918 9.00196e-12 23 66 PCDHGA9 56107 broad.mit.edu 37 5 140782758 140782758 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140782758G>T uc003lkh.1 + 1 239 c.239G>T c.(238-240)CGC>CTC p.R80L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R80L NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 80 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAACCCGCGCAGCGGCACC 0.612 NaN 1 0 0.00307968 0.038147 0.00317127 8 37 PCDHGA9 56107 broad.mit.edu 37 5 140782853 140782853 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140782853G>C uc003lkh.1 + 1 334 c.334G>C c.(334-336)GAC>CAC p.D112H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.D112H NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 112 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGTTGAAGACAGAGTGAA 0.507 NaN 0 0 0 0.049695 0 18 59 SLIT3 6586 broad.mit.edu 37 5 168100246 168100246 + Silent SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:168100246T>C uc003mab.2 - 33 4197 c.3777A>G c.(3775-3777)CCA>CCG p.P1259P SLIT3_uc010jjg.2_Silent_p.P1266P NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1259 Laminin G-like. 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) CCAGGCTCTTTGGAGTTCCTT 0.552 NaN 0 0 0 0.062417 0 19 60 NSD1 64324 broad.mit.edu 37 5 176696618 176696618 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:176696618G>C uc003mfr.3 + 16 5457 c.5319G>C c.(5317-5319)GAG>GAC p.E1773D NSD1_uc003mft.3_Missense_Mutation_p.E1504D|NSD1_uc003mfs.1_Missense_Mutation_p.E1670D|NSD1_uc011dfx.1_Missense_Mutation_p.E1421D NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1773 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCCAGCTGAGATCTGCCATC 0.433 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.004672 0 3 48 COL23A1 91522 broad.mit.edu 37 5 177690246 177690246 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:177690246G>A uc003mje.2 - 9 960 c.602C>T c.(601-603)ACT>ATT p.T201I COL23A1_uc010jkt.2_Silent_p.L49L NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 201 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) ATCTTTCCCAGTGTCGCCAGG 0.647 NaN 0 0 0 0.069234 0 7 27 FOXF2 2295 broad.mit.edu 37 6 1390560 1390560 + Silent SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:1390560C>A uc003mtm.2 + 1 492 c.378C>A c.(376-378)ATC>ATA p.I126I FOXF2_uc003mtn.2_Silent_p.I126I NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 126 Fork-head. epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TCAGCGAGATCTACCAGTTCC 0.647 NaN 1 0 5.18039e-06 0.038147 5.60535e-06 8 28 FOXF2 2295 broad.mit.edu 37 6 1390569 1390569 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:1390569C>A uc003mtm.2 + 1 501 c.387C>A c.(385-387)TTC>TTA p.F129L FOXF2_uc003mtn.2_Missense_Mutation_p.F129L NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 129 Fork-head. epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TCTACCAGTTCCTGCAGGCGC 0.632 NaN 1 0 3.59834e-05 0.021553 3.81892e-05 6 29 MAK 4117 broad.mit.edu 37 6 10796367 10796367 + Missense_Mutation SNP T T G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:10796367T>G uc003mzl.2 - 8 1236 c.1007A>C c.(1006-1008)CAG>CCG p.Q336P SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q336P|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 336 Glu/Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AGTTTTTGGCTGGGGTTGTCC 0.502 NaN 0 0 0 0.047766 0 9 77 BTN3A3 10384 broad.mit.edu 37 6 26443857 26443857 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:26443857T>C uc003nhz.2 + 3 235 c.55T>C c.(55-57)TTC>CTC p.F19L BTN3A3_uc003nia.2_Intron|BTN3A3_uc011dkn.1_Intron NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 19 integral to membrane 0 TGTCTCCCTCTTCTTGGTCCA 0.428 NaN 0 0 0 0.021553 0 5 52 OR14J1 442191 broad.mit.edu 37 6 29274561 29274561 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:29274561C>T uc011dln.1 + 1 95 c.95C>T c.(94-96)ACA>ATA p.T32I NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTCTGGTGACATACCTGCTG 0.438 NaN 0 0 0 0.020292 0 12 71 RDBP 7936 broad.mit.edu 37 6 31922347 31922347 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:31922347C>G uc003nyk.2 - 7 931 c.727G>C c.(727-729)GAG>CAG p.E243Q RDBP_uc011dot.1_Missense_Mutation_p.E213Q|RDBP_uc003nyl.1_Missense_Mutation_p.E183Q|RDBP_uc003nym.1_Missense_Mutation_p.E238Q NM_002904 NP_002895 P18615 NELFE_HUMAN RD RNA-binding protein 243 30 X 2 AA approximate tandem repeats of R-[DSNE].|30. positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm nucleotide binding|protein binding|RNA binding 0 AAAGGACCCtctcggtctcgg 0.239 NaN 0 0 0 0.058154 0 10 50 RDBP 7936 broad.mit.edu 37 6 31922614 31922614 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:31922614C>G uc003nyk.2 - 7 664 c.460G>C c.(460-462)GAG>CAG p.E154Q RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.E94Q|RDBP_uc003nym.1_Missense_Mutation_p.E149Q NM_002904 NP_002895 P18615 NELFE_HUMAN RD RNA-binding protein 154 positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm nucleotide binding|protein binding|RNA binding 0 CCTGGGCCCTCTGCCTCTTCT 0.577 NaN 0 0 0 0.041601 0 22 133 TNXB 7148 broad.mit.edu 37 6 32015617 32015617 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:32015617C>T uc003nzl.2 - 30 10414 c.10212G>A c.(10210-10212)CGG>CGA p.R3404R TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3451 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTGTGACCTCCCGCTGGTTGG 0.602 NaN 0 0 0 0.009096 0 4 15 TAPBP 6892 broad.mit.edu 37 6 33271748 33271748 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:33271748C>T uc003odx.1 - 7 1490 c.1319G>A c.(1318-1320)TGC>TAC p.C440Y TAPBP_uc010jus.1_Missense_Mutation_p.C458Y|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.C440Y|TAPBP_uc010jut.1_Missense_Mutation_p.C353Y NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 440 Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 TGAATCCTTGCAGGTGGACAG 0.483 NaN 0 0 0 0.028581 0 14 83 FANCE 2178 broad.mit.edu 37 6 35426107 35426107 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:35426107C>T uc003oko.1 + 5 1188 c.1003C>T c.(1003-1005)CAG>TAG p.Q335* FANCE_uc010jvw.1_Nonsense_Mutation_p.Q328* NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 335 Interaction with FANCC. DNA repair nucleoplasm protein binding ovary(1)|lung(1)|skin(1) 3 GCAGCTCCCTCAGCTCTCAGA 0.602 NaN N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.048971 0 43 146 SLC26A8 116369 broad.mit.edu 37 6 35923092 35923092 + Nonsense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:35923092G>C uc003olm.2 - 17 2180 c.2069C>G c.(2068-2070)TCA>TGA p.S690* SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S272*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S690*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S585* NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 690 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 GCTGTTTCTTGATGAGTTATT 0.512 NaN 0 0 0 0.009096 0 4 60 MAPK13 5603 broad.mit.edu 37 6 36098379 36098379 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:36098379A>G uc003ols.2 + 1 118 c.20A>G c.(19-21)AAG>AGG p.K7R MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 7 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 ATCCGGAAAAAGGGCTTCTAC 0.617 NaN 0 0 0 0.004672 0 2 10 NCR2 9436 broad.mit.edu 37 6 41304071 41304071 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:41304071G>C uc003oqh.2 + 2 386 c.299G>C c.(298-300)AGA>ACA p.R100T NCR2_uc003oqi.2_Missense_Mutation_p.R100T|NCR2_uc003oqj.2_Missense_Mutation_p.R100T NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 100 Extracellular (Potential).|Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) ACTGATCTGAGAGAGGAAGAC 0.517 NaN 0 0 0 0.014758 0 3 72 FRS3 10817 broad.mit.edu 37 6 41738604 41738604 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:41738604G>T uc003orc.1 - 7 1476 c.1232C>A c.(1231-1233)CCC>CAC p.P411H NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 411 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGCCTTGGGGGCTCGGGCCC 0.687 NaN 1 0 7.48243e-07 0.058154 8.15997e-07 9 30 CUL9 23113 broad.mit.edu 37 6 43181255 43181255 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:43181255C>T uc003ouk.2 + 28 5513 c.5438C>T c.(5437-5439)TCA>TTA p.S1813L CUL9_uc003oul.2_Missense_Mutation_p.S1813L|CUL9_uc010jyk.2_Missense_Mutation_p.S965L|CUL9_uc003oun.2_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1813 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCCCTCACCTCAGGGAATGGC 0.632 NaN 0 0 0 0.09319 0 12 65 CYP39A1 51302 broad.mit.edu 37 6 46607286 46607286 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:46607286C>A uc003oyf.1 - 3 637 c.433G>T c.(433-435)GAA>TAA p.E145* CYP39A1_uc011dwa.1_Nonsense_Mutation_p.E125*|CYP39A1_uc010jzd.1_Intron NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 145 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 TCCAGTTGTTCATGTAATTCT 0.363 NaN 1 0 2.17888e-05 0.058154 2.3303e-05 9 82 CYP39A1 51302 broad.mit.edu 37 6 46607298 46607298 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:46607298C>T uc003oyf.1 - 3 625 c.421G>A c.(421-423)GAA>AAA p.E141K CYP39A1_uc011dwa.1_Missense_Mutation_p.E121K|CYP39A1_uc010jzd.1_Intron NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 141 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 TGTAATTCTTCAGTCAGTTGC 0.378 NaN 0 0 0 0.038147 0 7 75 SIM1 6492 broad.mit.edu 37 6 100911253 100911253 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:100911253G>A uc003pqj.3 - 1 299 c.92C>T c.(91-93)TCG>TTG p.S31L SIM1_uc010kcu.2_Missense_Mutation_p.S31L NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 31 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGTGATAGCCGAGGGCAAAGG 0.458 NaN 0 0 0 0.0333 0 16 80 NT5DC1 221294 broad.mit.edu 37 6 116436852 116436852 + Splice_Site SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:116436852A>G uc003pwj.2 + 5 460 c.365_splice c.e5-2 p.G122_splice NT5DC1_uc003pwk.2_Splice_Site_p.G122_splice|NT5DC1_uc003pwl.2_Splice_Site_p.G72_splice NM_152729 NP_689942 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase, cytosolic II-like 1 protein hydrolase activity|metal ion binding 0 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) GTTCTTTTTTAGGAAAGTATT 0.368 NaN 0 0 0 0.047766 0 8 20 IL20RA 53832 broad.mit.edu 37 6 137330458 137330458 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:137330458C>T uc003qhj.2 - 4 1008 c.575G>A c.(574-576)AGA>AAA p.R192K IL20RA_uc011edl.1_Missense_Mutation_p.R143K|IL20RA_uc003qhk.2_Missense_Mutation_p.R81K|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 192 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GCTTACCGTTCTGTTTGATTT 0.403 NaN 0 0 0 0.024245 0 14 91 TXLNB 167838 broad.mit.edu 37 6 139583802 139583802 + Missense_Mutation SNP C C G rs140293549 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:139583802C>G uc011eds.1 - 5 961 c.796G>C c.(796-798)GAG>CAG p.E266Q NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 266 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) ATATTTCGCTCACTCTGCTGC 0.502 NaN 0 0 0 0.055883 0 17 57 SF3B5 83443 broad.mit.edu 37 6 144416498 144416498 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:144416498T>C uc003qkr.1 - 1 257 c.137A>G c.(136-138)CAC>CGC p.H46R NM_031287 NP_112577 Q9BWJ5 SF3B5_HUMAN SF3b10 46 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex 0 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) AAGGTCGAAGTGGCCCATGTA 0.572 NaN 0 0 0 0.062417 0 20 68 FNDC1 84624 broad.mit.edu 37 6 159654497 159654497 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:159654497C>T uc010kjv.2 + 11 3153 c.2953C>T c.(2953-2955)CGG>TGG p.R985W FNDC1_uc010kjw.1_Missense_Mutation_p.R870W NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 985 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCGCAGCACGGTCACAGCA 0.677 NaN 0 0 0 0.004672 0 3 14 SNX13 23161 broad.mit.edu 37 7 17879515 17879515 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:17879515C>T uc003stw.1 - 13 1487 c.1274G>A c.(1273-1275)AGA>AAA p.R425K SNX13_uc003stv.2_Missense_Mutation_p.R425K|SNX13_uc010kuc.2_Missense_Mutation_p.R222K Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 425 RGS. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) TTTTCCATCTCTCTGACGACT 0.413 NaN 0 0 0 0.021553 0 6 34 ELMO1 9844 broad.mit.edu 37 7 37252967 37252967 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:37252967C>T uc003tfk.1 - 12 1234 c.927G>A c.(925-927)ATG>ATA p.M309I ELMO1_uc011kbc.1_Missense_Mutation_p.M213I|ELMO1_uc010kxg.1_Missense_Mutation_p.M309I NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 309 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 TTTTGGTCATCATCCTGTCTT 0.498 NaN 0 0 0 0.080935 0 11 71 SLC26A4 5172 broad.mit.edu 37 7 107329646 107329646 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:107329646G>A uc003vep.2 + 9 1373 c.1149_splice c.e9+1 p.Q383_splice SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TGGGAACCAGGTATGGGTGCC 0.433 NaN Pendred_syndrome 0 0 0 0.049695 0 18 105 CADPS2 93664 broad.mit.edu 37 7 122130270 122130270 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:122130270C>A uc010lkp.2 - 11 1880 c.1717G>T c.(1717-1719)GAT>TAT p.D573Y CADPS2_uc003vkg.3_Missense_Mutation_p.D273Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D573Y NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 573 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TGTTCATCATCACTGGCAAAG 0.388 NaN 1 0 1.26484e-09 0.038147 1.40708e-09 6 133 CSMD3 114788 broad.mit.edu 37 8 113353795 113353795 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:113353795G>C uc003ynu.2 - 42 6722 c.6563C>G c.(6562-6564)TCT>TGT p.S2188C CSMD3_uc003yns.2_Missense_Mutation_p.S1390C|CSMD3_uc003ynt.2_Missense_Mutation_p.S2148C|CSMD3_uc011lhx.1_Missense_Mutation_p.S2084C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2188 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAATAAGGAAGATGGTATTTG 0.368 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.076483 0 20 87 CSMD3 114788 broad.mit.edu 37 8 113353910 113353910 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:113353910G>A uc003ynu.2 - 42 6607 c.6448C>T c.(6448-6450)CAT>TAT p.H2150Y CSMD3_uc003yns.2_Missense_Mutation_p.H1352Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2150 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACTGGAGATGTACACCTGAA 0.343 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.014758 0 5 19 ATAD2 29028 broad.mit.edu 37 8 124383930 124383930 + Silent SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:124383930C>A uc003yqh.3 - 4 624 c.516G>T c.(514-516)CTG>CTT p.L172L ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.L172L NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTTTGTCAAACAGCATGGACT 0.363 NaN 1 0 1.76689e-08 0.058154 1.94992e-08 7 48 PHF20L1 51105 broad.mit.edu 37 8 133851656 133851656 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:133851656G>A uc003ytt.2 + 18 2541 c.2216G>A c.(2215-2217)CGT>CAT p.R739H PHF20L1_uc011lja.1_Missense_Mutation_p.R713H NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 739 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCAAAATATCGTTATGATAAG 0.368 NaN 0 0 0 0.076483 0 20 113 FAM135B 51059 broad.mit.edu 37 8 139163874 139163874 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:139163874C>A uc003yuy.2 - 13 3015 c.2844G>T c.(2842-2844)AGG>AGT p.R948S FAM135B_uc003yux.2_Missense_Mutation_p.R849S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R510S|FAM135B_uc003yvb.2_Missense_Mutation_p.R510S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 948 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGTTGAGTTCCTGTTGATGG 0.488 NaN HNSCC(54;0.14) 1 0 1.75199e-13 0.034045 2.01369e-13 29 114 FAM83H 286077 broad.mit.edu 37 8 144811408 144811408 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:144811408T>C uc003yzk.2 - 3 602 c.533A>G c.(532-534)TAC>TGC p.Y178C FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 178 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGCAGGATGTAGACTGGGAC 0.632 NaN 0 0 0 0.099896 0 24 99 SMARCA2 6595 broad.mit.edu 37 9 2088542 2088542 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:2088542C>A uc003zhc.2 + 19 2911 c.2812C>A c.(2812-2814)CTA>ATA p.L938I SMARCA2_uc003zhd.2_Missense_Mutation_p.L938I|SMARCA2_uc010mha.2_Missense_Mutation_p.L871I NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 938 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CATCAGGCGTCTACATAAGGT 0.343 NaN 1 0 9.70103e-10 0.069234 1.08354e-09 9 78 CNTLN 54875 broad.mit.edu 37 9 17502622 17502622 + Missense_Mutation SNP A A T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:17502622A>T uc003zmy.2 + 26 4219 c.4193A>T c.(4192-4194)TAT>TTT p.Y1398F CNTLN_uc010mio.2_3'UTR NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 Error:Variant_position_missing_in_Q9NXG0_after_alignment centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GTTGAAGGATATTTCACAATT 0.279 NaN 0 0 0 0.009096 0 4 14 LRRC19 64922 broad.mit.edu 37 9 26995683 26995683 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:26995683C>T uc003zqh.2 - 5 1060 c.949G>A c.(949-951)GAA>AAA p.E317K IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 precursor 317 Cytoplasmic (Potential). integral to membrane 0 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) AAACCATCTTCATAGGTTTCT 0.343 NaN 0 0 0 0.058154 0 9 67 VPS13A 23230 broad.mit.edu 37 9 79959136 79959136 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:79959136C>T uc004akr.2 + 51 7354 c.7094C>T c.(7093-7095)CCT>CTT p.P2365L VPS13A_uc004akp.3_Missense_Mutation_p.P2365L|VPS13A_uc004akq.3_Missense_Mutation_p.P2365L|VPS13A_uc004aks.2_Missense_Mutation_p.P2326L NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2365 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AGTGAAGATCCTCCCAAAAGG 0.303 NaN 0 0 0 0.038395 0 15 57 FKBP15 23307 broad.mit.edu 37 9 115950730 115950730 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:115950730A>G uc004bgs.2 - 13 1333 c.1215T>C c.(1213-1215)ACT>ACC p.T405T FKBP15_uc010muu.1_Silent_p.T469T|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Silent_p.T337T|FKBP15_uc010mut.1_Silent_p.T273T|FKBP15_uc004bgt.2_Silent_p.T405T NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 405 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 GGACGGACGGAGTCACCACAG 0.567 NaN 0 0 0 0.069234 0 9 53 SURF1 6834 broad.mit.edu 37 9 136220672 136220672 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:136220672G>A uc004cdh.1 - 5 479 c.447C>T c.(445-447)GGC>GGT p.G149G SURF1_uc004cdg.1_Silent_p.G40G|SURF2_uc004cdi.2_5'Flank NM_003172 NP_003163 Q15526 SURF1_HUMAN surfeit 1 149 aerobic respiration|respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity breast(2) 2 OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05) AGATGAGGCCGCCCTCCCGGG 0.612 NaN 0 0 0 0.009096 0 4 159 RXRA 6256 broad.mit.edu 37 9 137293529 137293529 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:137293529C>G uc004cfb.2 + 2 242 c.80C>G c.(79-81)TCC>TGC p.S27C RXRA_uc004cfa.1_Silent_p.L77L NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 27 Modulating (By similarity). S->A: Increase in RARA-mediated transcriptional activity.|S->A: Abolishes phosphorylation. No change in increase of RARA-mediated transcriptional activity. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GGGCGAGGCTCCATGGCTGCC 0.662 NaN 0 0 0 0.0918 0 25 54 CNKSR2 22866 broad.mit.edu 37 X 21613156 21613156 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:21613156G>A uc004czx.1 + 16 1931 c.1895G>A c.(1894-1896)CGC>CAC p.R632H CNKSR2_uc004czw.2_Missense_Mutation_p.R632H|CNKSR2_uc011mjn.1_Missense_Mutation_p.R583H|CNKSR2_uc011mjo.1_Missense_Mutation_p.R602H|CNKSR2_uc004czy.2_Missense_Mutation_p.R224H NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 632 PH. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AGTGAATGCCGCAAAAAATAG 0.323 NaN 0 0 0 0.058154 0 8 9 RPGR 6103 broad.mit.edu 37 X 38156638 38156638 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:38156638G>C uc004ded.1 - 11 1481 c.1313C>G c.(1312-1314)TCT>TGT p.S438C RPGR_uc004deb.2_Missense_Mutation_p.S438C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.S123C NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 438 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 AAAACAAGCAGAAAGGCCAAG 0.428 NaN 0 0 0 0.069234 0 10 20 WDR45 11152 broad.mit.edu 37 X 48933234 48933234 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:48933234C>A uc004dmk.1 - 8 867 c.695G>T c.(694-696)CGC>CTC p.R232L PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130L|WDR45_uc004dmj.1_Missense_Mutation_p.R193L|WDR45_uc004dml.1_Missense_Mutation_p.R233L|WDR45_uc004dmm.1_Missense_Mutation_p.R197L|WDR45_uc010nim.1_Missense_Mutation_p.R232L|WDR45_uc004dmn.1_Missense_Mutation_p.R123L|WDR45_uc004dmo.1_Missense_Mutation_p.R255L|WDR45_uc004dmp.1_Missense_Mutation_p.R233L NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 232 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 AGTGCCTCGGCGCAGCTCCAC 0.567 NaN 1 0 0.00448238 0.047766 0.00459859 7 17 PJA1 64219 broad.mit.edu 37 X 68381656 68381656 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:68381656C>T uc004dxh.2 - 2 1712 c.1426G>A c.(1426-1428)GAT>AAT p.D476N PJA1_uc011mpi.1_Missense_Mutation_p.D194N|PJA1_uc004dxg.2_Missense_Mutation_p.D288N|PJA1_uc004dxi.2_Missense_Mutation_p.D421N NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 476 zinc ion binding 0 GAATCATTATCCCCCTCACTG 0.478 NaN 0 0 0 0.021553 0 4 115 GLA 2717 broad.mit.edu 37 X 100656704 100656704 + Missense_Mutation SNP C C G rs113419388 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:100656704C>G uc004ehl.1 - 3 573 c.463G>C c.(463-465)GAT>CAT p.D155H GLA_uc011mrj.1_Missense_Mutation_p.D155H NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 155 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) GTCTGGGCATCAATGTCGTAG 0.428 NaN 0 0 0 0.059317 0 29 42 USP26 83844 broad.mit.edu 37 X 132162154 132162154 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:132162154C>A uc010nrm.1 - 6 565 c.95G>T c.(94-96)AGA>ATA p.R32I USP26_uc011mvf.1_Missense_Mutation_p.R32I NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 32 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) TTTCTTCTTTCTTTCCACTGC 0.368 NaN 1 0 0.00116845 0.021553 0.00121221 6 17 RIT1 6016 broad.mit.edu 37 1 155874559 155874561 + In_Frame_Del DEL TCA TCA - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:155874559_155874561delTCA uc001fmh.1 - 4 385_387 c.198_200delTGA c.(196-201)GATGAG>GAG p.D66del RIT1_uc010pgr.1_In_Frame_Del_p.D30del NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 66 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) ATTGGCAGGCTCATCATCAATAC 0.409 NaN NaN NaN NaN NaN NaN 11 100 --- --- WNK1 65125 broad.mit.edu 37 12 970296 970297 + Frame_Shift_Ins INS - - A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:970296_970297insA uc001qio.3 + 7 2245_2246 c.1738_1739insA c.(1738-1740)GAAfs p.E580fs WNK1_uc001qip.3_Frame_Shift_Ins_p.E580fs|WNK1_uc001qir.3_Frame_Shift_Ins_p.E27fs NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 580 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGAGGAGCAAGAAAAAAAAAAG 0.47 NaN NaN NaN NaN NaN NaN 7 97 --- --- DUSP6 1848 broad.mit.edu 37 12 89744602 89744603 + Frame_Shift_Ins INS - - G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:89744602_89744603insG uc001tay.2 - 2 1080_1081 c.600_601insC c.(598-603)TCCAACfs p.S200fs DUSP6_uc001taz.2_Intron NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 200_201 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 GGCTGGCTGTTGGACAGCGGAC 0.564 NaN NaN NaN NaN NaN NaN 19 139 --- --- UTP20 27340 broad.mit.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:101680157delT uc001tia.1 + 5 541 c.385delT c.(385-387)TTTfs p.F129fs UTP20_uc009ztz.1_Frame_Shift_Del_p.F129fs NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 129 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 CTTTCCAGAGTTTTTTTTGAC 0.398 NaN NaN NaN NaN NaN NaN 8 241 --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:55362674_55362676delGAG uc002ehy.2 + 5 1317_1319 c.784_786delGAG c.(784-786)GAGdel p.E268del IRX6_uc002ehx.2_In_Frame_Del_p.E268del NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CCTggaggaagaggaggaggagg 0.493 NaN NaN NaN NaN NaN NaN 7 71 --- --- RBM43 375287 broad.mit.edu 37 2 152108088 152108088 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:152108088delT uc002txh.2 - 4 554 c.406delA c.(406-408)ATCfs p.I136fs NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 136 nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) AAACTCGGGATTTTTTTTTTC 0.388 NaN NaN NaN NaN NaN NaN 7 103 --- --- COL18A1 80781 broad.mit.edu 37 21 46913126 46913126 + Frame_Shift_Del DEL C C - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:46913126delC uc011afs.1 + 24 3530 c.3509delC c.(3508-3510)TCCfs p.S1170fs COL18A1_uc002zhg.2_Frame_Shift_Del_p.S755fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.S935fs NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1170 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAACGAGGCTCCCCGGGACCC 0.672 NaN NaN NaN NaN NaN NaN 2 4 --- --- FAT1 2195 broad.mit.edu 37 4 187557747 187557747 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:187557747delT uc003izf.2 - 5 4152 c.3964delA c.(3964-3966)ATTfs p.I1322fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1322 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACTGAAAGAATATCATATTCT 0.338 NaN HNSCC(5;0.00058) NaN NaN NaN NaN NaN 14 300 --- --- RHOBTB3 22836 broad.mit.edu 37 5 95116086 95116086 + Frame_Shift_Del DEL C C - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:95116086delC uc003klm.2 + 9 1950 c.1413delC c.(1411-1413)TTCfs p.F471fs NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 471 BTB 2.|Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AAGAGACTTTCTTGTCATTTT 0.418 NaN NaN NaN NaN NaN NaN 20 73 --- ---