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 CELA2A 63036 broad.mit.edu 37 1 15789243 15789243 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:15789243C>T uc001awk.2 + 4 269 c.243C>T c.(241-243)TAC>TAT p.Y81Y NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 81 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CCAGGACCTACCGCGTGGGGC 0.612 NaN 0 0 0 0.039052 0 43 81 CNKSR1 10256 broad.mit.edu 37 1 26514993 26514993 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:26514993C>T uc001bln.3 + 18 1668 c.1610C>T c.(1609-1611)TCG>TTG p.S537L CNKSR1_uc001blm.3_Missense_Mutation_p.S530L|CNKSR1_uc009vsd.2_Missense_Mutation_p.S272L|CNKSR1_uc009vse.2_Missense_Mutation_p.S272L|CNKSR1_uc001blo.2_Missense_Mutation_p.S272L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 537 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CACTCAGCCTCGGTGAGTGGG 0.637 NaN 0 0 0 0.038147 0 7 13 CNKSR1 10256 broad.mit.edu 37 1 26515960 26515960 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:26515960C>G uc001bln.3 + 21 2142 c.2084C>G c.(2083-2085)TCC>TGC p.S695C CNKSR1_uc001blm.3_Missense_Mutation_p.S688C|CNKSR1_uc009vsd.2_Missense_Mutation_p.S430C|CNKSR1_uc009vse.2_Missense_Mutation_p.S430C|CNKSR1_uc001blo.2_Missense_Mutation_p.S430C|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 695 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCCCACTCCCTGCCCTCT 0.642 NaN 0 0 0 0.11126 0 42 84 FGR 2268 broad.mit.edu 37 1 27943478 27943478 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:27943478C>G uc001boj.2 - 5 718 c.572G>C c.(571-573)AGA>ACA p.R191T FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R191T|FGR_uc001bol.2_Missense_Mutation_p.R191T|FGR_uc001bom.2_Missense_Mutation_p.R191T NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 191 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ATGATCGCCTCTGGTCTGATC 0.557 NaN 0 0 0 0.048971 0 50 94 BAI2 576 broad.mit.edu 37 1 32204223 32204223 + Silent SNP C C T rs140870509 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:32204223C>T uc001btn.2 - 17 2964 c.2610G>A c.(2608-2610)ACG>ACA p.T870T BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Silent_p.T512T|BAI2_uc010ogp.1_Silent_p.T803T|BAI2_uc010ogq.1_Silent_p.T870T|BAI2_uc001bto.2_Silent_p.T870T|BAI2_uc001btq.1_Silent_p.T803T NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 870 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T870T(1) lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AATGGGGATCCGTGGTCCCCT 0.632 NaN 0 0 0 0.047766 0 8 13 GNL2 29889 broad.mit.edu 37 1 38032516 38032516 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:38032516C>G uc001cbk.2 - 16 2299 c.2136G>C c.(2134-2136)AAG>AAC p.K712N NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 712 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) CATTGGTCTTCTTTTTGTTCC 0.388 NaN 0 0 0 0.048971 0 52 108 DMBX1 127343 broad.mit.edu 37 1 46976774 46976774 + Silent SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:46976774C>A uc001cpx.2 + 3 531 c.516C>A c.(514-516)GGC>GGA p.G172G DMBX1_uc001cpw.2_Silent_p.G167G NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 172 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTCTGCCTGGCAGCGACCCCC 0.662 NaN 1 0 1.36161e-19 0.069456 1.46477e-19 33 114 HSPB11 51668 broad.mit.edu 37 1 54405716 54405716 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:54405716C>T uc001cwh.2 - 2 116 c.40G>A c.(40-42)GAA>AAA p.E14K HSPB11_uc001cwi.1_Missense_Mutation_p.E14K NM_016126 NP_057210 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 14 cell adhesion|response to stress 0 AAAATCACTTCGGACCCTTCA 0.328 NaN 0 0 0 0.038395 0 14 31 LRRIQ3 127255 broad.mit.edu 37 1 74506961 74506961 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:74506961C>A uc001dfy.3 - 7 1846 c.1654G>T c.(1654-1656)GTT>TTT p.V552F LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 552 ovary(2) 2 TTTTGCTTAACAATCAGGCTT 0.313 NaN 1 0 2.2171e-23 0.041601 2.4094e-23 32 45 GTF2B 2959 broad.mit.edu 37 1 89323052 89323052 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:89323052G>A uc001dmo.3 - 6 773 c.654C>T c.(652-654)TTC>TTT p.F218F NM_001514 NP_001505 Q00403 TF2B_HUMAN general transcription factor IIB 218 2. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) GGTTGGAACAGAACCTGGACA 0.433 NaN 0 0 0 0.083992 0 26 50 COL11A1 1301 broad.mit.edu 37 1 103488345 103488345 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:103488345C>G uc001dul.2 - 8 1516 c.1198G>C c.(1198-1200)GAA>CAA p.E400Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E412Q|COL11A1_uc001dun.2_Missense_Mutation_p.E361Q|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 400 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCAAATTCTTCATTAGGG 0.363 NaN 0 0 0 0.108266 0 28 81 ADAR 103 broad.mit.edu 37 1 154562706 154562706 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:154562706C>G uc001ffh.2 - 7 2650 c.2450G>C c.(2449-2451)AGA>ACA p.R817T ADAR_uc001ffj.2_Intron|ADAR_uc001ffi.2_Intron|ADAR_uc001ffk.2_Missense_Mutation_p.R522T NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 817 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAGCATAGTTCTTCTGAGACT 0.552 NaN 0 0 0 0.074837 0 33 60 SELP 6403 broad.mit.edu 37 1 169566333 169566333 + Missense_Mutation SNP G G A rs143148749 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:169566333G>A uc001ggi.3 - 11 1852 c.1787C>T c.(1786-1788)TCC>TTC p.S596F SELP_uc001ggh.2_Missense_Mutation_p.S431F|SELP_uc009wvr.2_Missense_Mutation_p.S596F NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 596 Extracellular (Potential).|Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.S596T(1) ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATGGCAGGTGGAGCCAACATT 0.498 NaN 0 0 0 0.030593 0 29 33 CHIT1 1118 broad.mit.edu 37 1 203194936 203194936 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:203194936G>A uc001gzn.2 - 3 214 c.118C>T c.(118-120)CGC>TGC p.R40C FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.R50C NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 40 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 GGCAGGAAGCGAGCCTCCCCC 0.577 NaN 0 0 0 0.059317 0 32 52 NFASC 23114 broad.mit.edu 37 1 204923365 204923365 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:204923365C>T uc001hbj.2 + 6 593 c.265C>T c.(265-267)CGG>TGG p.R89W NFASC_uc001hbh.2_Missense_Mutation_p.R89W|NFASC_uc010pqz.1_Missense_Mutation_p.R83W|NFASC_uc010pra.1_Missense_Mutation_p.R83W|NFASC_uc001hbi.2_Missense_Mutation_p.R83W|NFASC_uc009xbg.1_Missense_Mutation_p.R156W|NFASC_uc010prb.1_Missense_Mutation_p.R83W|NFASC_uc010prc.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 89 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAAGGACCCCCGGGTGTCCAT 0.602 NaN 0 0 0 0.049695 0 19 53 ITIH2 3698 broad.mit.edu 37 10 7774363 7774363 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:7774363G>A uc001ijs.2 + 14 1872 c.1710G>A c.(1708-1710)TCG>TCA p.S570S NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 570 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.S570L(1) ovary(1)|pancreas(1)|skin(1) 3 ATTTTCTATCGAAAGACAAGC 0.483 NaN 0 0 0 0.09319 0 13 43 TAF3 83860 broad.mit.edu 37 10 8056618 8056618 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:8056618G>T uc010qbd.1 + 7 2694 c.2694G>T c.(2692-2694)ATG>ATT p.M898I NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 898 PHD-type. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TTGGAATCATGACTGCACCCC 0.448 NaN 1 0 6.4e-05 0.004672 6.46066e-05 3 18 PTCHD3 374308 broad.mit.edu 37 10 27688159 27688159 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:27688159G>A uc001itu.2 - 4 1486 c.1368C>T c.(1366-1368)GTC>GTT p.V456V NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 456 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 ACATGTCATCGACCCCAACAC 0.358 NaN 0 0 0 0.055883 0 18 30 ADAMTS14 140766 broad.mit.edu 37 10 72517796 72517796 + Missense_Mutation SNP G G A rs146237817 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:72517796G>A uc001jrh.2 + 20 3016 c.3016G>A c.(3016-3018)GAG>AAG p.E1006K ADAMTS14_uc001jrg.2_Missense_Mutation_p.E1009K NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1006 TSP type-1 4. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CGGGCATTGCGAGGGGGATAG 0.667 NaN 0 0 0 0.021553 0 6 79 MRPS16 51021 broad.mit.edu 37 10 75011600 75011600 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:75011600G>A uc001jts.1 - 2 406 c.195C>T c.(193-195)CTC>CTT p.L65L DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank NM_016065 NP_057149 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 precursor 65 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 Prostate(51;0.0119) TGAGGGCAACGAGTTTTTCTC 0.537 NaN 0 0 0 0.048971 0 50 113 LIPF 8513 broad.mit.edu 37 10 90427424 90427424 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:90427424G>A uc001kfg.1 + 3 370 c.204G>A c.(202-204)AAG>AAA p.K68K LIPF_uc009xtk.2_Silent_p.K68K|LIPF_uc001kfh.1_Silent_p.K78K|LIPF_uc010qmt.1_Silent_p.K78K|LIPF_uc010qmu.1_Silent_p.K68K NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 68 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) CTTATGGGAAGAAAAATTCAG 0.214 NaN 0 0 0 0.108266 0 25 55 DMBT1 1755 broad.mit.edu 37 10 124348479 124348479 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:124348479C>T uc001lgk.1 + 17 1909 c.1803C>T c.(1801-1803)GCC>GCT p.A601A DMBT1_uc001lgl.1_Silent_p.A591A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A601A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 601 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGTTTGGCCCTGAGGCTGG 0.542 NaN 0 0 0 0.047766 0 8 5 MUC5B 727897 broad.mit.edu 37 11 1267503 1267503 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:1267503G>A uc009ycr.1 + 49 11268 c.11142G>A c.(11140-11142)ACG>ACA p.T3714T MUC5B_uc001ltb.2_Silent_p.T3134T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3131 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCGGGGACGACCTGGATCC 0.657 NaN 0 0 0 0.048971 0 58 134 LGR4 55366 broad.mit.edu 37 11 27398722 27398722 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:27398722G>T uc001mrj.3 - 12 1577 c.1092C>A c.(1090-1092)TGC>TGA p.C364* LGR4_uc001mrk.3_Nonsense_Mutation_p.C340* NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 364 Extracellular (Potential).|LRR 12. integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 CCAGAGCATGGCAACCATTAA 0.308 NaN 1 0 5.77227e-19 0.037714 6.17836e-19 28 47 TMX2 51075 broad.mit.edu 37 11 57505121 57505121 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:57505121G>A uc001nlc.1 + 2 280 c.231G>A c.(229-231)ATG>ATA p.M77I CTNND1_uc001nlf.1_5'UTR|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.M77I NM_015959 NP_057043 Q9Y320 TMX2_HUMAN thioredoxin domain containing 14 isoform 1 77 Extracellular (Potential). cell redox homeostasis integral to membrane 0 CCATTGTGATGATGAAGAACC 0.433 NaN 0 0 0 0.024245 0 13 32 CD5 921 broad.mit.edu 37 11 60892591 60892591 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:60892591C>A uc009ynk.2 + 9 1470 c.1367C>A c.(1366-1368)CCT>CAT p.P456H NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 456 Cytoplasmic (Potential). cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TACAGCCAACCTCCCAGGAAC 0.617 NaN 1 0 3.10358e-05 0.069288 3.14792e-05 22 39 GDPD4 220032 broad.mit.edu 37 11 76944073 76944073 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944073G>A uc001oyf.2 - 13 1637 c.1386C>T c.(1384-1386)TTC>TTT p.F462F NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 462 Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 AGCTCACCATGAAGAAGTGAG 0.557 NaN 0 0 0 0.069456 0 13 43 GDPD4 220032 broad.mit.edu 37 11 76944076 76944076 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944076G>A uc001oyf.2 - 13 1634 c.1383C>T c.(1381-1383)TTC>TTT p.F461F NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 461 Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 TCACCATGAAGAAGTGAGGGT 0.547 NaN 0 0 0 0.074837 0 13 43 GDPD4 220032 broad.mit.edu 37 11 76944087 76944087 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944087G>A uc001oyf.2 - 13 1623 c.1372C>T c.(1372-1374)CAC>TAC p.H458Y NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 458 Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 AAGTGAGGGTGATCAAGCTGA 0.537 NaN 0 0 0 0.09836 0 18 43 MMP8 4317 broad.mit.edu 37 11 102586120 102586120 + Silent SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:102586120A>G uc001phe.2 - 7 1050 c.951T>C c.(949-951)TTT>TTC p.F317F MMP8_uc010rut.1_Silent_p.F252F|MMP8_uc010ruu.1_Silent_p.F294F NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 317 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ATAGAGAAATAAAATTCATTT 0.383 NaN 0 0 0 0.0333 0 18 16 RPH3A 22895 broad.mit.edu 37 12 113325677 113325677 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113325677G>A uc010syl.1 + 17 1874 c.1512G>A c.(1510-1512)CTG>CTA p.L504L RPH3A_uc001ttz.2_Silent_p.L504L|RPH3A_uc001tty.2_Silent_p.L500L|RPH3A_uc009zwe.1_Silent_p.L500L|RPH3A_uc010sym.1_Silent_p.L455L|RPH3A_uc001tua.2_Silent_p.L264L NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 504 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) TCAAGAAACTGAAGCCCAACC 0.502 NaN 0 0 0 0.048971 0 63 198 DTX1 1840 broad.mit.edu 37 12 113515459 113515459 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113515459C>T uc001tuk.1 + 2 826 c.490C>T c.(490-492)CGC>TGC p.R164C NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 164 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CCGCCAGAcgcgccggcgccg 0.527 NaN 0 0 0 0.038147 0 6 22 SLC24A6 80024 broad.mit.edu 37 12 113742153 113742153 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113742153C>T uc001tvc.2 - 15 1740 c.1530G>A c.(1528-1530)CAG>CAA p.Q510Q SLC24A6_uc001tuz.2_Silent_p.Q215Q|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.Q248Q NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 510 Cytoplasmic (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 TTCGGGAGATCTGGAGCAGGC 0.502 NaN 0 0 0 0.048971 0 48 182 NBEA 26960 broad.mit.edu 37 13 35731303 35731303 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:35731303G>T uc001uvb.2 + 22 2946 c.2740G>T c.(2740-2742)GAA>TAA p.E914* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 914 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAAGATTACCGAAATGGTCTA 0.408 NaN 1 0 1.84765e-07 0.064281 1.89206e-07 37 76 PCDH8 5100 broad.mit.edu 37 13 53421499 53421499 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:53421499G>A uc001vhi.2 - 1 1276 c.1073C>T c.(1072-1074)CCG>CTG p.P358L PCDH8_uc001vhj.2_Missense_Mutation_p.P358L NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 358 Extracellular (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGCGGCCAGCGGGGTGATGGC 0.761 NaN 0 0 0 0.047766 0 8 14 KLF5 688 broad.mit.edu 37 13 73649881 73649881 + Missense_Mutation SNP G G T rs144543104 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:73649881G>T uc001vje.2 + 4 1555 c.1231G>T c.(1231-1233)GAC>TAC p.D411Y KLF5_uc001vjd.2_Missense_Mutation_p.D320Y NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 411 C2H2-type 2. transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GGAAGGCTGCGACTGGAGGTT 0.577 NaN 1 0 9.90819e-18 0.048971 1.04997e-17 54 137 KLF5 688 broad.mit.edu 37 13 73649892 73649892 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:73649892C>T uc001vje.2 + 4 1566 c.1242C>T c.(1240-1242)TTC>TTT p.F414F KLF5_uc001vjd.2_Silent_p.F323F NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 414 C2H2-type 2. transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) ACTGGAGGTTCGCGCGATCGG 0.582 NaN 0 0 0 0.11126 0 43 108 ABCC4 10257 broad.mit.edu 37 13 95813572 95813572 + Missense_Mutation SNP C C T rs146708960 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:95813572C>T uc001vmd.3 - 19 2445 c.2326G>A c.(2326-2328)GTT>ATT p.V776I ABCC4_uc010afk.2_Missense_Mutation_p.V729I|ABCC4_uc001vme.2_Missense_Mutation_p.V776I|ABCC4_uc010tih.1_Missense_Mutation_p.V701I NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 776 ABC transmembrane type-1 2.|Helical; (Potential). V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type). platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCAAAAAGAACGGTAGCTACA 0.358 NaN 0 0 0 0.058154 0 10 39 COL4A1 1282 broad.mit.edu 37 13 110830437 110830437 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:110830437C>T uc001vqw.3 - 32 2722 c.2600G>A c.(2599-2601)GGG>GAG p.G867E COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 867 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCCAGGAGCCCCCTGCTGTCC 0.547 NaN 0 0 0 0.048971 0 50 109 RNASE3 6037 broad.mit.edu 37 14 21359944 21359944 + Silent SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:21359944G>T uc001vyj.2 + 2 153 c.99G>T c.(97-99)ACG>ACT p.T33T NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 33 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CACAGTTTACGAGGGCTCAGT 0.507 NaN 1 0 3.70713e-34 0.048971 4.0702e-34 47 109 C14orf21 161424 broad.mit.edu 37 14 24769970 24769970 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:24769970C>T uc001wol.1 + 2 667 c.604C>T c.(604-606)CAT>TAT p.H202Y C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 202 Pumilio 2. RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) TGGAGACACACATGGCAGCTT 0.527 NaN 0 0 0 0.048971 0 54 107 ARHGAP5 394 broad.mit.edu 37 14 32561150 32561150 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:32561150G>C uc001wrl.2 + 2 1514 c.1275G>C c.(1273-1275)AAG>AAC p.K425N ARHGAP5_uc001wrm.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wrn.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 425 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TATCCGAGAAGAGGAGGGTGG 0.393 NaN 0 0 0 0.069456 0 38 58 PPM1A 5494 broad.mit.edu 37 14 60750068 60750068 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:60750068C>T uc010apn.2 + 3 1049 c.647C>T c.(646-648)TCA>TTA p.S216L PPM1A_uc001xew.3_Missense_Mutation_p.S289L|PPM1A_uc001xex.3_Missense_Mutation_p.S216L|PPM1A_uc001xey.3_Missense_Mutation_p.S216L NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 216 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) CAGCTTGTCTCACCAGAGCCT 0.443 NaN 0 0 0 0.048971 0 55 112 ZFP36L1 677 broad.mit.edu 37 14 69256761 69256761 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:69256761T>C uc001xkh.1 - 2 636 c.506A>G c.(505-507)TAC>TGC p.Y169C ZFP36L1_uc001xki.1_Missense_Mutation_p.Y169C NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 169 C3H1-type 2. regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCGGGGCCCGTAGGGGCAAAA 0.672 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.042209 0 38 83 C14orf49 161176 broad.mit.edu 37 14 95884264 95884264 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:95884264G>A uc001yei.3 - 17 2842 c.2827C>T c.(2827-2829)CTG>TTG p.L943L C14orf49_uc010avi.2_Silent_p.L938L NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 943 Helical; Anchor for type IV membrane protein; (Potential).|KASH. cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) ATTGGGagcaggaacagcagg 0.493 NaN 0 0 0 0.048971 0 47 74 HHIPL1 84439 broad.mit.edu 37 14 100118593 100118593 + Silent SNP C C T rs142575301 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:100118593C>T uc010avs.2 + 2 353 c.288C>T c.(286-288)GAC>GAT p.D96D HHIPL1_uc001ygl.1_Silent_p.D96D NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 96 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) ACCTCTATGACGCCGAGGACC 0.522 NaN 0 0 0 0.099896 0 27 68 UNC13C 440279 broad.mit.edu 37 15 54793159 54793159 + Missense_Mutation SNP A A C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:54793159A>C uc002ack.2 + 20 5284 c.5284A>C c.(5284-5286)ATG>CTG p.M1762L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1762 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCTCACTTAATGAGAAGATT 0.368 NaN 0 0 0 0.045515 0 44 75 TLN2 83660 broad.mit.edu 37 15 63128203 63128203 + Silent SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:63128203C>G uc002alb.3 + 54 7305 c.7305C>G c.(7303-7305)TCC>TCG p.S2435S TLN2_uc002alc.3_Silent_p.S828S|TLN2_uc010uic.1_Silent_p.S36S|uc002ale.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2435 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TCGCCGCTTCCACGGCTCAGC 0.612 NaN 0 0 0 0.105934 0 14 25 HERC1 8925 broad.mit.edu 37 15 63927026 63927026 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:63927026C>T uc002amp.2 - 66 12624 c.12476G>A c.(12475-12477)GGG>GAG p.G4159E NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4159 RCC1 11. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GTCACCATTCCCAAAGGTGAA 0.448 NaN 0 0 0 0.105934 0 14 18 THSD4 79875 broad.mit.edu 37 15 72030322 72030322 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:72030322G>C uc002atb.1 + 10 1961 c.1882G>C c.(1882-1884)GAA>CAA p.E628Q THSD4_uc010ukg.1_Missense_Mutation_p.E268Q|THSD4_uc002ate.2_Missense_Mutation_p.E268Q NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 628 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TGGGACAACAGAATGTTCCAC 0.587 NaN 0 0 0 0.055883 0 20 43 NEO1 4756 broad.mit.edu 37 15 73428236 73428236 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:73428236G>A uc002avm.3 + 5 1025 c.883G>A c.(883-885)GAA>AAA p.E295K NEO1_uc010ukx.1_Missense_Mutation_p.E295K|NEO1_uc010uky.1_Missense_Mutation_p.E295K|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 295 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 ACACAGCTCTGAAAGATTGGT 0.338 NaN 0 0 0 0.02938 0 5 8 SRRM2 23524 broad.mit.edu 37 16 2820448 2820448 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:2820448C>T uc002crk.2 + 13 8666 c.8117C>T c.(8116-8118)TCA>TTA p.S2706L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2706 Ser-rich.|Arg-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCCCAGCCCTCACCACGGGAC 0.642 NaN 0 0 0 0.02938 0 7 12 MEFV 4210 broad.mit.edu 37 16 3297033 3297033 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:3297033C>T uc002cun.1 - 5 1610 c.1570G>A c.(1570-1572)GAA>AAA p.E524K NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 524 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) AGTTCCCATTCTGACTGGCAC 0.617 NaN 0 0 0 0.048971 0 51 74 TNRC6A 27327 broad.mit.edu 37 16 24826603 24826603 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:24826603C>G uc002dmm.2 + 19 4922 c.4808C>G c.(4807-4809)TCT>TGT p.S1603C TNRC6A_uc010bxs.2_Missense_Mutation_p.S1350C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1301C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1242C|TNRC6A_uc002dmp.2_Missense_Mutation_p.S204C|TNRC6A_uc002dmq.2_Missense_Mutation_p.S270C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1603 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CCTAACGGCTCTAGCAGTGTT 0.433 NaN 0 0 0 0.0918 0 26 34 MYLK3 91807 broad.mit.edu 37 16 46744549 46744549 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:46744549C>T uc002eei.3 - 11 2383 c.2267G>A c.(2266-2268)AGC>AAC p.S756N MYLK3_uc010vge.1_Missense_Mutation_p.S415N NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 756 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGAAAGGTACCTCTTCTCTTT 0.532 NaN 0 0 0 0.045515 0 43 101 MYLK3 91807 broad.mit.edu 37 16 46766181 46766181 + Silent SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:46766181C>A uc002eei.3 - 4 1517 c.1401G>T c.(1399-1401)CCG>CCT p.P467P MYLK3_uc010vge.1_Silent_p.P126P|MYLK3_uc002eej.1_Silent_p.P126P NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 467 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CAGCTCTCACCGGAGCCCTGG 0.657 NaN 1 0 5.60225e-13 0.041601 5.84941e-13 32 61 ZNF423 23090 broad.mit.edu 37 16 49671231 49671231 + Missense_Mutation SNP T T A rs114911915 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:49671231T>A uc002efs.2 - 5 2130 c.1832A>T c.(1831-1833)GAG>GTG p.E611V ZNF423_uc010vgn.1_Missense_Mutation_p.E494V NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 611 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGAAGACACCTCCACATCGGA 0.547 NaN 0 0 0 0.048971 0 46 60 PARD6A 50855 broad.mit.edu 37 16 67695399 67695399 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:67695399G>A uc002ett.2 + 2 196 c.105G>A c.(103-105)TCG>TCA p.S35S ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S35S|PARD6A_uc002etu.2_5'UTR NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 35 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCGCGCTTCGGTGAGCGGCT 0.657 NaN 0 0 0 0.039052 0 38 87 LDHD 197257 broad.mit.edu 37 16 75149486 75149487 + Missense_Mutation DNP CC CC TT TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:75149486_75149487CC>TT uc002fdm.2 - 2 191_192 c.144_145GG>AA c.(142-147)GCGGTG>GCAATG p.V49M LDHD_uc002fdn.2_Missense_Mutation_p.V49M NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 49 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TCTCGGACCACCGCGGCAGTGG 0.649 NaN 0 0 0 0.004672 0 7 38 RPL13 6137 broad.mit.edu 37 16 89629441 89629441 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:89629441G>T uc002fnm.1 + 6 678 c.627G>T c.(625-627)AAG>AAT p.K209N RPL13_uc010vpj.1_Missense_Mutation_p.K162N|RPL13_uc002fnn.1_Missense_Mutation_p.K209N|RPL13_uc002fno.1_3'UTR NM_000977 NP_000968 P26373 RL13_HUMAN ribosomal protein L13 209 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome 0 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) ATGTTGAAAAGAAAAAATAAA 0.557 NaN 1 0 2.10051e-16 0.09319 2.21489e-16 12 21 RILP 83547 broad.mit.edu 37 17 1551226 1551226 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:1551226G>A uc002ftd.2 - 6 1141 c.847C>T c.(847-849)CCC>TCC p.P283S SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 283 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGAAGGCCGGGGACCCGGTGG 0.602 NaN 0 0 0 0.0918 0 25 36 TP53 7157 broad.mit.edu 37 17 7579472 7579472 + Missense_Mutation SNP G G C rs1042522 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:7579472G>C uc002gim.2 - 4 409 c.215C>G c.(214-216)CCC>CGC p.P72R TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 72 Interaction with WWOX.|Interaction with HRMT1L2. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGGCCACGGGGGGAGCAGC 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.09319 0 12 141 GAS2L2 246176 broad.mit.edu 37 17 34073278 34073278 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:34073278C>T uc002hjv.1 - 6 1266 c.1238G>A c.(1237-1239)AGG>AAG p.R413K NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 413 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AATCCTTCCCCTGGGGAGTTC 0.597 NaN 0 0 0 0.048971 0 154 150 STARD3 10948 broad.mit.edu 37 17 37809815 37809815 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:37809815G>A uc002hsd.2 + 2 155 c.31G>A c.(31-33)GAC>AAC p.D11N STARD3_uc010weg.1_Missense_Mutation_p.D11N|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.D11N|STARD3_uc010wei.1_Missense_Mutation_p.D11N|STARD3_uc002hsf.2_5'UTR NM_006804 NP_006795 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain 11 Cytoplasmic (Potential). cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCTGACCCGAGACTTGGAGCG 0.716 NaN OREG0024381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.043863 0 16 74 NSF 4905 broad.mit.edu 37 17 44827187 44827187 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:44827187C>A uc002iku.2 + 18 2061 c.1957C>A c.(1957-1959)CAG>AAG p.Q653K NSF_uc010wke.1_Missense_Mutation_p.Q559K|NSF_uc010wkf.1_Missense_Mutation_p.Q559K|NSF_uc010wkg.1_Missense_Mutation_p.Q648K NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 653 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) AGATGTCCTTCAGGAGATGGA 0.448 NaN 1 0 6.00712e-18 0.050027 6.39759e-18 29 109 COIL 8161 broad.mit.edu 37 17 55023818 55023818 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:55023818G>A uc002iuu.2 - 5 1574 c.1543C>T c.(1543-1545)CTT>TTT p.L515F NM_004645 NP_004636 P38432 COIL_HUMAN coilin 515 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) AAGGATGAAAGAATTTCTATA 0.308 NaN 0 0 0 0.048971 0 47 161 SMARCD2 6603 broad.mit.edu 37 17 61910950 61910950 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:61910950G>A uc010deb.1 - 10 1631 c.1314C>T c.(1312-1314)GTC>GTT p.V438V SMARCD2_uc010wpt.1_Silent_p.V390V|SMARCD2_uc010dea.1_Silent_p.V363V|SMARCD2_uc010dec.1_Silent_p.V417V NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 438 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 GGCCCACCTTGACATCAAGGG 0.577 NaN 0 0 0 0.045515 0 40 121 ABCA8 10351 broad.mit.edu 37 17 66915581 66915581 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:66915581A>G uc002jhp.2 - 13 1828 c.1649T>C c.(1648-1650)ATG>ACG p.M550T ABCA8_uc002jhq.2_Missense_Mutation_p.M550T|ABCA8_uc010wqq.1_Missense_Mutation_p.M550T|ABCA8_uc010wqr.1_Missense_Mutation_p.M489T|ABCA8_uc002jhr.2_Missense_Mutation_p.M550T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 550 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TAGGTCAGCCATTTCTGAAAG 0.368 NaN 0 0 0 0.062417 0 19 82 DCC 1630 broad.mit.edu 37 18 50985651 50985651 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr18:50985651C>A uc002lfe.1 + 24 4029 c.3442C>A c.(3442-3444)CTC>ATC p.L1148I DCC_uc010dpf.1_Missense_Mutation_p.L783I NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1148 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCAGAAGGACCTCCGACCCCC 0.493 NaN 1 0 1.49552e-23 0.048971 1.63357e-23 70 27 SERPINB11 89778 broad.mit.edu 37 18 61383320 61383320 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr18:61383320G>A uc002ljk.3 + 6 471 c.409G>A c.(409-411)GAT>AAT p.D137N SERPINB11_uc010xes.1_Intron|SERPINB11_uc010dqd.2_Missense_Mutation_p.D23N|SERPINB11_uc002ljj.3_Missense_Mutation_p.D23N|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 137 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) GCAAACTGTGGATTTTGAACA 0.343 NaN 0 0 0 0.049695 0 18 10 POLRMT 5442 broad.mit.edu 37 19 619039 619039 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:619039G>A uc002lpf.1 - 15 3281 c.3225C>T c.(3223-3225)GGC>GGT p.G1075G NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1075 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACGGGGACGCCCAGGGGTG 0.647 NaN 0 0 0 0.049695 0 20 21 AP3D1 8943 broad.mit.edu 37 19 2110148 2110148 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:2110148G>A uc002luz.2 - 26 3288 c.3065C>T c.(3064-3066)TCC>TTC p.S1022F AP3D1_uc010dsv.2_Missense_Mutation_p.S112F|AP3D1_uc002luy.2_Missense_Mutation_p.S981F|AP3D1_uc002lva.2_Missense_Mutation_p.S1084F NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 1022 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCAATGAAGGACAGGGTCCC 0.632 NaN 0 0 0 0.069288 0 21 42 SAFB 6294 broad.mit.edu 37 19 5668195 5668195 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:5668195G>A uc002mcf.2 + 21 2694 c.2641G>A c.(2641-2643)GGG>AGG p.G881R SAFB_uc002mcg.2_Missense_Mutation_p.G883R|SAFB_uc002mce.3_Missense_Mutation_p.G882R|SAFB_uc010xir.1_Missense_Mutation_p.G880R|SAFB_uc010xis.1_Missense_Mutation_p.G814R|SAFB_uc010xit.1_Missense_Mutation_p.G725R|SAFB_uc010xiu.1_Missense_Mutation_p.G682R NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 881 Interaction with SAFB2.|Gly-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGCCCCAGGCGGGGCCTCCCG 0.682 NaN 0 0 0 0.048971 0 46 78 ICAM3 3385 broad.mit.edu 37 19 10445321 10445321 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:10445321G>C uc002mob.2 - 5 1130 c.1075C>G c.(1075-1077)CAA>GAA p.Q359E RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.Q282E NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 359 Extracellular (Potential).|Ig-like C2-type 4. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) AGCTGAAGTTGAGCTGGCTGC 0.632 NaN 0 0 0 0.074837 0 32 67 ZNF799 90576 broad.mit.edu 37 19 12491949 12491949 + Missense_Mutation SNP T T C rs11668955 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:12491949T>C uc002mts.3 - 4 593 c.127A>G c.(127-129)ACC>GCC p.T43A Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TAACTGAAGGTTTTCCAAAAT 0.403 NaN 0 0 0 0.004672 0 3 24 ZNF799 90576 broad.mit.edu 37 19 12491955 12491955 + Missense_Mutation SNP A A C rs11668074 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:12491955A>C uc002mts.3 - 4 587 c.121T>G c.(121-123)TGG>GGG p.W41G Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 AAGGTTTTCCAAAATTGTTTA 0.408 NaN 0 0 0 0.004672 0 3 20 SLC5A5 6528 broad.mit.edu 37 19 17992856 17992856 + Missense_Mutation SNP A A T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:17992856A>T uc002nhr.3 + 9 1493 c.1146A>T c.(1144-1146)AAA>AAT p.K382N NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 382 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 CACCCAGGAAACTCGTGATTA 0.577 NaN 0 0 0 0.108266 0 28 52 MAST3 23031 broad.mit.edu 37 19 18234408 18234408 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:18234408G>A uc002nhz.3 + 7 489 c.489G>A c.(487-489)GGG>GGA p.G163G NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 163 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GTGCAACGGGGACCTTCGACA 0.602 NaN 0 0 0 0.014758 0 5 10 PDCD2L 84306 broad.mit.edu 37 19 34895679 34895679 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:34895679C>T uc002nvj.2 + 2 267 c.234C>T c.(232-234)TTC>TTT p.F78F NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 78 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGCACGTGTTCGCGTGCGCCT 0.711 NaN 0 0 0 0.09319 0 10 10 ZNF841 284371 broad.mit.edu 37 19 52568806 52568806 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:52568806G>A uc002pyl.1 - 5 2533 c.1981C>T c.(1981-1983)CGC>TGC p.R661C ZNF841_uc010ydh.1_Missense_Mutation_p.R777C|ZNF841_uc010epk.1_Missense_Mutation_p.R353C NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN zinc finger protein 841 661 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGCCTGAGCGATAACGGAAG 0.428 NaN 0 0 0 0.020292 0 15 29 LAIR1 3903 broad.mit.edu 37 19 54871634 54871634 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:54871634G>A uc002qfk.1 - 4 720 c.410C>T c.(409-411)TCA>TTA p.S137L LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S136L|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Missense_Mutation_p.S130L|LAIR1_uc002qfo.2_Missense_Mutation_p.S119L NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 137 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CTGACCAGCTGAGGAGCCGGG 0.627 NaN 0 0 0 0.024245 0 12 30 NLRP2 55655 broad.mit.edu 37 19 55512138 55512138 + Missense_Mutation SNP G G C rs144393067 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:55512138G>C uc002qij.2 + 13 3147 c.3061G>C c.(3061-3063)GAT>CAT p.D1021H NLRP2_uc010yfp.1_Missense_Mutation_p.D998H|NLRP2_uc010esn.2_Missense_Mutation_p.D997H|NLRP2_uc010eso.2_Missense_Mutation_p.D1018H|NLRP2_uc010esp.2_Missense_Mutation_p.D999H NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1021 LRR 8. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTTGAAAATCGATGACTTTAA 0.393 NaN 0 0 0 0.09836 0 36 53 MAP4K3 8491 broad.mit.edu 37 2 39505628 39505628 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:39505628C>T uc002rro.2 - 24 1806 c.1715_splice c.e24-1 p.D572_splice MAP4K3_uc002rrp.2_Splice_Site_p.D551_splice|MAP4K3_uc010yns.1_Splice_Site_p.D125_splice NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) AAGTACTGATCTGAAATAAAA 0.254 NaN 0 0 0 0.045705 0 31 27 KLRAQ1 129285 broad.mit.edu 37 2 48698230 48698230 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:48698230C>T uc002rwm.2 + 10 1087 c.902C>T c.(901-903)TCA>TTA p.S301L KLRAQ1_uc002rwi.1_Missense_Mutation_p.S301L|KLRAQ1_uc002rwj.2_Missense_Mutation_p.S301L|KLRAQ1_uc002rwl.2_Missense_Mutation_p.S255L|KLRAQ1_uc002rwk.2_Missense_Mutation_p.S301L|KLRAQ1_uc010yok.1_Missense_Mutation_p.S301L NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 301 ovary(1) 1 GTTTAGTTCTCACAATACCTT 0.363 NaN 0 0 0 0.054565 0 31 29 ASB3 51130 broad.mit.edu 37 2 53897698 53897698 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:53897698T>C uc002rxg.1 - 10 1634 c.1499A>G c.(1498-1500)TAT>TGT p.Y500C ASB3_uc002rxh.1_Missense_Mutation_p.Y427C|ASB3_uc002rxi.3_Missense_Mutation_p.Y538C|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 500 SOCS box. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AACGTCTTCATAGAGCAAATA 0.388 NaN 0 0 0 0.080935 0 11 35 ALMS1 7840 broad.mit.edu 37 2 73717138 73717138 + Silent SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:73717138A>G uc002sje.1 + 12 8166 c.8055A>G c.(8053-8055)GTA>GTG p.V2685V ALMS1_uc002sjf.1_Silent_p.V2641V|ALMS1_uc002sjg.2_Silent_p.V2071V|ALMS1_uc002sjh.1_Silent_p.V2071V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2683 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CAGAATTAGTAGAACCTGCTT 0.398 NaN 0 0 0 0.048971 0 173 126 GPAT2 150763 broad.mit.edu 37 2 96690055 96690055 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:96690055C>T uc002svf.2 - 16 1923 c.1700G>A c.(1699-1701)AGA>AAA p.R567K GPAT2_uc002svd.2_Missense_Mutation_p.R386K|GPAT2_uc002sve.2_Missense_Mutation_p.R369K|GPAT2_uc002svg.2_Missense_Mutation_p.R446K|GPAT2_uc010yuh.1_Missense_Mutation_p.R496K|GPAT2_uc002svh.2_Missense_Mutation_p.R567K NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 567 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 GGGCGGCACTCTGCCTGCCAG 0.642 NaN 0 0 0 0.050027 0 25 23 GLI2 2736 broad.mit.edu 37 2 121708927 121708927 + Nonsense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:121708927C>G uc010flp.2 + 3 393 c.363C>G c.(361-363)TAC>TAG p.Y121* GLI2_uc010yyu.1_Nonsense_Mutation_p.Y121*|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Nonsense_Mutation_p.Y121* NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 121 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCCACCCGTACGTGAACCCCC 0.657 NaN 0 0 0 0.038147 0 8 84 ZRANB3 84083 broad.mit.edu 37 2 136107676 136107676 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:136107676C>G uc002tum.2 - 5 586 c.469G>C c.(469-471)GAT>CAT p.D157H ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D157H|ZRANB3_uc002tun.1_Missense_Mutation_p.D97H NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 157 DEAH box.|Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TGTGATTCATCCACTATAACT 0.408 NaN 0 0 0 0.080935 0 12 14 TTN 7273 broad.mit.edu 37 2 179610937 179610937 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:179610937G>A uc002unb.2 - 46 16414 c.16190C>T c.(16189-16191)GCT>GTT p.A5397V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8905 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) TTTGAATACAGCATCTGAATT 0.328 NaN 0 0 0 0.069288 0 23 30 FARSB 10056 broad.mit.edu 37 2 223436667 223436667 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:223436667G>A uc002vne.1 - 17 1728 c.1693C>T c.(1693-1695)CAT>TAT p.H565Y FARSB_uc010zlq.1_Missense_Mutation_p.H585Y|FARSB_uc002vnf.1_Missense_Mutation_p.H466Y NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 565 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) ACGTCAGGATGAAGGACCCCA 0.488 NaN 0 0 0 0.069288 0 21 17 HDAC4 9759 broad.mit.edu 37 2 240061422 240061422 + Silent SNP C C T rs138989369 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:240061422C>T uc002vyk.3 - 9 1728 c.936G>A c.(934-936)GCG>GCA p.A312A HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 312 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TACCGTTCTCCGCGCTGACGC 0.662 NaN 0 0 0 0.09319 0 11 124 PASK 23178 broad.mit.edu 37 2 242065894 242065894 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:242065894C>T uc002wao.1 - 10 2528 c.2436G>A c.(2434-2436)CGG>CGA p.R812R PASK_uc010zol.1_Silent_p.R626R|PASK_uc010zom.1_Silent_p.R777R|PASK_uc010fzl.1_Silent_p.R812R|PASK_uc010zon.1_Silent_p.R593R|PASK_uc002wap.2_Silent_p.R355R|PASK_uc002waq.2_Silent_p.R812R NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 812 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TCTCCCGGAACCGTCGGCCTT 0.562 NaN 0 0 0 0.041601 0 31 33 CSNK2A1 1457 broad.mit.edu 37 20 472991 472991 + Nonsense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:472991C>T uc002wdw.1 - 9 921 c.528G>A c.(526-528)TGG>TGA p.W176* CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.W176*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.W40* NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 176 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CAGCCAAACCCCAGTCTATTA 0.393 NaN 0 0 0 0.080935 0 11 43 PIGU 128869 broad.mit.edu 37 20 33162908 33162908 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:33162908C>T uc002xas.2 - 11 1394 c.1194G>A c.(1192-1194)CAG>CAA p.Q398Q PIGU_uc010zul.1_Silent_p.Q398Q|PIGU_uc002xat.2_Silent_p.Q378Q NM_080476 NP_536724 Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, 398 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane 0 TCCCTCTTACCTGCCCAACGT 0.483 NaN 0 0 0 0.086207 0 37 81 TGM2 7052 broad.mit.edu 37 20 36760817 36760817 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:36760817G>A uc002xhr.2 - 11 1801 c.1701C>T c.(1699-1701)CTC>CTT p.L567L TGM2_uc002xhq.2_Silent_p.L168L|TGM2_uc010zvx.1_Silent_p.L486L|TGM2_uc010zvy.1_Silent_p.L507L|TGM2_uc002xhs.1_Silent_p.L543L NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 567 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CTGGCTCCACGAGGAGGGCCC 0.557 NaN 0 0 0 0.048971 0 93 216 KCNB1 3745 broad.mit.edu 37 20 47991418 47991418 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:47991418G>A uc002xur.1 - 2 843 c.679C>T c.(679-681)CCC>TCC p.P227S KCNB1_uc002xus.1_Missense_Mutation_p.P227S NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 227 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCAGCTGGGGGTTGTCTGTG 0.572 NaN 0 0 0 0.041601 0 31 41 DIDO1 11083 broad.mit.edu 37 20 61541160 61541160 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:61541160G>A uc002ydr.1 - 4 1316 c.1052C>T c.(1051-1053)ACA>ATA p.T351I DIDO1_uc002yds.1_Missense_Mutation_p.T351I|DIDO1_uc002ydt.1_Missense_Mutation_p.T351I|DIDO1_uc002ydu.1_Missense_Mutation_p.T351I|DIDO1_uc002ydv.1_Missense_Mutation_p.T351I|DIDO1_uc002ydw.1_Missense_Mutation_p.T351I|DIDO1_uc002ydx.1_Missense_Mutation_p.T351I|DIDO1_uc011aao.1_Missense_Mutation_p.T351I NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 351 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCCTATACTTGTACAATCGGT 0.453 NaN 0 0 0 0.048971 0 69 102 KRTAP19-2 337969 broad.mit.edu 37 21 31859546 31859546 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:31859546G>T uc011acy.1 - 1 122 c.122C>A c.(121-123)TCA>TAA p.S41* NM_181608 NP_853639 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 41 intermediate filament 0 TCTGTAGCATGATGGGCAGCA 0.453 NaN 1 0 2.08937e-45 0.048971 2.30589e-45 78 138 SLC5A3 6526 broad.mit.edu 37 21 35468622 35468622 + Silent SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:35468622G>C uc002yto.2 + 2 1637 c.1125G>C c.(1123-1125)CTG>CTC p.L375L MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 375 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 TTGCAGCTCTGATGAGTGACT 0.493 NaN 0 0 0 0.0918 0 24 45 RRP1B 23076 broad.mit.edu 37 21 45106729 45106729 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:45106729G>T uc002zdk.2 + 12 1168 c.1054G>T c.(1054-1056)GAT>TAT p.D352Y RRP1B_uc002zdl.2_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 352 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) CATTTCTGCTGATGAAGATGA 0.428 NaN 1 0 2.47316e-13 0.059317 2.59499e-13 35 84 ASCC2 84164 broad.mit.edu 37 22 30200815 30200815 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr22:30200815C>T uc003agr.2 - 13 1270 c.1165G>A c.(1165-1167)GAG>AAG p.E389K ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E389K|ASCC2_uc011akr.1_Missense_Mutation_p.E313K NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GTCCGCGTCTCGTCCCTGTGA 0.547 NaN 0 0 0 0.048971 0 97 315 IL2RB 3560 broad.mit.edu 37 22 37524480 37524480 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr22:37524480G>C uc003aqv.1 - 10 1443 c.1312C>G c.(1312-1314)CCC>GCC p.P438A NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 438 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGGGGGCTGGGGCCACCGAGG 0.672 NaN 0 0 0 0.076483 0 23 23 LRRN1 57633 broad.mit.edu 37 3 3887651 3887651 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:3887651G>A uc003bpt.3 + 2 2087 c.1326G>A c.(1324-1326)ACG>ACA p.T442T SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 442 Ig-like C2-type.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCGGCACGACGGTTTTCCTAG 0.448 NaN 0 0 0 0.045705 0 31 102 ATG7 10533 broad.mit.edu 37 3 11340868 11340868 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:11340868T>C uc003bwc.2 + 3 310 c.193T>C c.(193-195)TTG>CTG p.L65L ATG7_uc003bwd.2_Silent_p.L65L|ATG7_uc011aum.1_Silent_p.L65L NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 65 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 TCGCTTAACATTGGAGTTCAG 0.393 NaN 0 0 0 0.048971 0 50 147 LRRFIP2 9209 broad.mit.edu 37 3 37125241 37125241 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:37125241C>A uc003cgp.2 - 20 1587 c.1164G>T c.(1162-1164)CAG>CAT p.Q388H LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q204H|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q132H NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 388 Potential. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 CATTGTCTAACTGTGCATTGG 0.348 NaN 1 0 2.4624e-09 0.049695 2.53377e-09 19 74 GOLGA4 2803 broad.mit.edu 37 3 37336557 37336557 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:37336557C>G uc003cgv.2 + 6 974 c.670C>G c.(670-672)CTC>GTC p.L224V GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.L246V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L105V NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 224 Potential. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TATCAGTGTTCTCCAAACTCA 0.363 NaN 0 0 0 0.064281 0 36 85 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:51743211G>A uc010hlv.2 + 2 451 c.212G>A c.(211-213)CGC>CAC p.R71H GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 71 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632 NaN 0 0 0 0.048971 0 52 202 ERC2 26059 broad.mit.edu 37 3 56468686 56468686 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:56468686T>C uc003dhr.1 - 2 606 c.350A>G c.(349-351)TAC>TGC p.Y117C NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 117 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTGATCTGTGTATGAAAGGAC 0.507 NaN 0 0 0 0.048971 0 69 174 MGLL 11343 broad.mit.edu 37 3 127439916 127439916 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:127439916C>G uc003ejx.2 - 5 605 c.460G>C c.(460-462)GAA>CAA p.E154Q MGLL_uc003ejw.2_Missense_Mutation_p.E164Q|MGLL_uc011bko.1_Missense_Mutation_p.E164Q|MGLL_uc010hsp.1_Missense_Mutation_p.E154Q|MGLL_uc003ejv.2_Missense_Mutation_p.E128Q NM_001003794 NP_001003794 Q99685 MGLL_HUMAN monoglyceride lipase isoform 2 154 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity 0 GTTGCAGATTCAGGATTGGCA 0.537 NaN 0 0 0 0.037714 0 26 85 ECE2 9718 broad.mit.edu 37 3 183995773 183995773 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:183995773C>G uc003fni.3 + 5 931 c.893C>G c.(892-894)TCT>TGT p.S298C ECE2_uc011brg.1_Missense_Mutation_p.S226C|ECE2_uc011brh.1_Missense_Mutation_p.S151C|ECE2_uc003fnl.3_Missense_Mutation_p.S226C|ECE2_uc003fnm.3_Missense_Mutation_p.S180C|ECE2_uc003fnk.3_Missense_Mutation_p.S151C|ECE2_uc011bri.1_Missense_Mutation_p.S213C|ECE2_uc010hxv.2_Translation_Start_Site NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 298 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCTACCTATCTTGCCTACAG 0.562 NaN 0 0 0 0.086207 0 40 115 ST6GAL1 6480 broad.mit.edu 37 3 186760727 186760727 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:186760727G>T uc003frb.2 + 4 668 c.236G>T c.(235-237)GGC>GTC p.G79V ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.G79V NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 79 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CAGACCCTCGGCAGTCTCAGA 0.567 NaN 1 0 9.85913e-13 0.11126 1.02439e-12 43 137 LMLN 89782 broad.mit.edu 37 3 197726164 197726164 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:197726164C>G uc011buo.1 + 11 1205 c.1183C>G c.(1183-1185)CAG>GAG p.Q395E LMLN_uc003fyt.2_Missense_Mutation_p.Q343E|LMLN_uc010iar.2_Missense_Mutation_p.Q395E|LMLN_uc010ias.2_Missense_Mutation_p.Q343E|LMLN_uc003fyu.2_Missense_Mutation_p.Q155E NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 395 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TTCTCACACTCAGAATCGAGT 0.388 NaN 0 0 0 0.043863 0 17 58 RNF212 285498 broad.mit.edu 37 4 1107304 1107304 + Translation_Start_Site SNP A A T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:1107304A>T uc003gcj.2 - 1 279 c.-51T>A c.(-53--49)CCTTG>CCATG RNF212_uc003gci.2_Translation_Start_Site|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Translation_Start_Site|RNF212_uc003gck.2_Translation_Start_Site NM_001131034 NP_001124506 Q495C1 RN212_HUMAN ring finger protein 212 isoform a zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) AGCCCACGCAAGGTTGGGACC 0.736 NaN 0 0 0 0.080935 0 10 17 KIAA0232 9778 broad.mit.edu 37 4 6862671 6862671 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:6862671C>G uc003gjr.3 + 7 1025 c.562C>G c.(562-564)CTG>GTG p.L188V KIAA0232_uc003gjq.3_Missense_Mutation_p.L188V NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 188 ATP binding ovary(2) 2 ACCAGTTTGCCTGCAAGAAAT 0.408 NaN 0 0 0 0.048971 0 50 97 CC2D2A 57545 broad.mit.edu 37 4 15542459 15542459 + Splice_Site SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:15542459G>A uc010idv.2 + 18 2249 c.2004_splice c.e18-1 p.R668_splice CC2D2A_uc003gnx.2_Splice_Site_p.R619_splice|CC2D2A_uc003gnz.1_Splice_Site|CC2D2A_uc003goa.1_Splice_Site NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 TCCTTTTGCAGAGCGGAGGTC 0.433 NaN 0 0 0 0.004672 0 3 10 UCHL1 7345 broad.mit.edu 37 4 41263746 41263746 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:41263746C>T uc003gvo.2 + 5 436 c.340C>T c.(340-342)CTG>TTG p.L114L UCHL1_uc003gvp.2_Silent_p.L33L|UCHL1_uc003gvq.2_Silent_p.L33L|UCHL1_uc003gvr.2_Silent_p.L33L|UCHL1_uc003gvs.2_Silent_p.L33L NM_004181 NP_004172 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 114 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|skin(1) 2 TGGATCAGTTCTGAAACAGTT 0.343 NaN 0 0 0 0.038395 0 18 41 LPHN3 23284 broad.mit.edu 37 4 62813863 62813863 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:62813863T>C uc010ihh.2 + 14 2643 c.2470T>C c.(2470-2472)TCC>CCC p.S824P LPHN3_uc003hcq.3_Missense_Mutation_p.S824P|LPHN3_uc003hct.2_Missense_Mutation_p.S217P NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 811 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTGGAGCTACTCCAAGCGTAC 0.373 NaN 0 0 0 0.02938 0 6 15 SHROOM3 57619 broad.mit.edu 37 4 77357255 77357255 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:77357255C>G uc011cbx.1 + 1 1003 c.50C>G c.(49-51)TCT>TGT p.S17C NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 17 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) ACATTAAACTCTAACACGGCC 0.483 NaN 0 0 0 0.048971 0 66 131 ATOH1 474 broad.mit.edu 37 4 94750250 94750250 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:94750250G>T uc003hta.1 + 1 173 c.173G>T c.(172-174)AGC>ATC p.S58I NM_005172 NP_005163 Q92858 ATOH1_HUMAN atonal homolog 1 58 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) CTCCTGGACAGCACCGACCCA 0.677 NaN 1 0 1.16021e-09 0.034045 1.19963e-09 27 47 ADCY2 108 broad.mit.edu 37 5 7695949 7695949 + Silent SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:7695949C>G uc003jdz.1 + 6 1021 c.954C>G c.(952-954)CTC>CTG p.L318L ADCY2_uc011cmo.1_Silent_p.L138L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 318 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGAATGAGCTCTTTGGAAAGT 0.433 NaN 0 0 0 0.0333 0 14 33 MARCH11 441061 broad.mit.edu 37 5 16067768 16067768 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:16067768T>C uc003jfo.2 - 4 1234 c.1021A>G c.(1021-1023)AGT>GGT p.S341G MARCH11_uc010itw.1_Missense_Mutation_p.S97G NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 341 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 AAAGTCCTACTTGTGGAAGAC 0.473 NaN 0 0 0 0.108266 0 28 62 BASP1 10409 broad.mit.edu 37 5 17275799 17275799 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:17275799C>T uc003jfx.2 + 2 653 c.474C>T c.(472-474)GCC>GCT p.A158A NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 158 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 CAGCTCCTGCCGCCCAGGAGA 0.517 NaN 0 0 0 0.02938 0 6 15 ANKRD55 79722 broad.mit.edu 37 5 55407474 55407475 + Missense_Mutation DNP CC CC AA TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:55407474_55407475CC>AA uc003jqu.2 - 10 1252_1253 c.1100_1101GG>TT c.(1099-1101)AGG>ATT p.R367I ANKRD55_uc003jqt.2_Missense_Mutation_p.R79I NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 366 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGTATCGGTCCCTGCTGGGATC 0.505 NaN 0 0 0 0.004672 0 81 185 ZNF608 57507 broad.mit.edu 37 5 123983602 123983602 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:123983602T>C uc003ktq.1 - 4 2598 c.2475A>G c.(2473-2475)AAA>AAG p.K825K ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.K825K|ZNF608_uc003ktt.1_Silent_p.K825K NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 825 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTCCCGTCTCTTTCCCTTCTT 0.473 NaN 0 0 0 0.048971 0 76 174 FBN2 2201 broad.mit.edu 37 5 127674667 127674667 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:127674667C>T uc003kuu.2 - 26 3869 c.3430G>A c.(3430-3432)GAA>AAA p.E1144K FBN2_uc003kuv.2_Missense_Mutation_p.E1111K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1144 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATAGCCTTCGAAGCACTCG 0.507 NaN 0 0 0 0.054565 0 32 84 REEP2 51308 broad.mit.edu 37 5 137777134 137777134 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:137777134G>A uc003lcz.2 + 3 288 c.166G>A c.(166-168)GAT>AAT p.D56N REEP2_uc003lda.2_Missense_Mutation_p.D56N|REEP2_uc011cyt.1_Missense_Mutation_p.D17N NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 56 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACGCTCACGGATATAGTGCT 0.602 NaN 0 0 0 0.050027 0 29 57 PCDHA4 56144 broad.mit.edu 37 5 140188665 140188665 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:140188665C>T uc003lhi.2 + 1 1994 c.1893C>T c.(1891-1893)ATC>ATT p.I631I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.I631I|PCDHA4_uc011daa.1_Silent_p.I631I NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 631 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCGAGATCAGCACAACGC 0.682 NaN 0 0 0 0.048971 0 59 132 PCDHGB1 56104 broad.mit.edu 37 5 140730728 140730728 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:140730728G>A uc003ljo.1 + 1 901 c.901G>A c.(901-903)GGC>AGC p.G301S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.G301S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 301 Extracellular (Potential).|Cadherin 3. 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) CACAACCAATGGCACATTGGA 0.418 NaN 0 0 0 0.048971 0 47 97 FOXC1 2296 broad.mit.edu 37 6 1612318 1612318 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:1612318C>T uc003mtp.2 + 1 1638 c.1638C>T c.(1636-1638)TTC>TTT p.F546F NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 546 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|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|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) CCGGAGCTTTCGTCTACGACT 0.498 NaN 0 0 0 0.105934 0 14 21 HLA-DMB 3109 broad.mit.edu 37 6 32906580 32906580 + Missense_Mutation SNP G G A rs12176347 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:32906580G>A uc003ocl.1 - 2 451 c.218C>T c.(217-219)GCG>GTG p.A73V HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 73 Beta-1.|Lumenal (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 GAGGACATTCGCCAAGCTATT 0.527 NaN 0 0 0 0.045515 0 47 80 RWDD2A 112611 broad.mit.edu 37 6 83905938 83905938 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:83905938G>C uc003pjx.3 + 3 1097 c.826G>C c.(826-828)GAG>CAG p.E276Q PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.E201Q NM_033411 NP_219479 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 276 0 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) GCACAAAAGTGAGCATGTTTT 0.363 NaN 0 0 0 0.069288 0 23 55 PRSS35 167681 broad.mit.edu 37 6 84234199 84234199 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:84234199G>A uc003pjz.2 + 2 1202 c.1039G>A c.(1039-1041)GGT>AGT p.G347S PRSS35_uc010kbm.2_Missense_Mutation_p.G347S NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 347 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGCTCCACCGGTTCGGGGGT 0.512 NaN 0 0 0 0.048971 0 52 72 SFRS18 25957 broad.mit.edu 37 6 99848724 99848724 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:99848724A>G uc003ppo.3 - 12 2338 c.2110T>C c.(2110-2112)TTC>CTC p.F704L SFRS18_uc003ppl.2_Missense_Mutation_p.F250L|SFRS18_uc003ppp.3_Missense_Mutation_p.F704L|SFRS18_uc011eag.1_Missense_Mutation_p.F704L NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 704 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TGACTACTGAACTTAAAATCt 0.169 NaN 0 0 0 0.105934 0 14 29 LAMA2 3908 broad.mit.edu 37 6 129794495 129794495 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:129794495G>C uc003qbn.2 + 51 7542 c.7437G>C c.(7435-7437)TTG>TTC p.L2479F LAMA2_uc003qbo.2_Missense_Mutation_p.L2479F NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2479 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAGAAACTTGAGGTAATTTA 0.333 NaN 0 0 0 0.099896 0 26 48 OLIG3 167826 broad.mit.edu 37 6 137815072 137815072 + Missense_Mutation SNP T T A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:137815072T>A uc003qhp.1 - 1 460 c.236A>T c.(235-237)CAG>CTG p.Q79L NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 79 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CTGTAGGTCCTGCTCCGACAG 0.597 NaN 0 0 0 0.048971 0 63 120 TWISTNB 221830 broad.mit.edu 37 7 19738064 19738064 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:19738064C>T uc003sup.1 - 4 913 c.892G>A c.(892-894)GAC>AAC p.D298N NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 298 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 CCACTGGAGTCACTGCCTTGG 0.423 NaN 0 0 0 0.048971 0 208 207 DNAH11 8701 broad.mit.edu 37 7 21857887 21857887 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:21857887G>A uc003svc.2 + 66 10673 c.10642G>A c.(10642-10644)GAA>AAA p.E3548K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3548 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CATCTTAATTGAAAATCTCGA 0.328 NaN Kartagener_syndrome 0 0 0 0.104719 0 38 22 AMPH 273 broad.mit.edu 37 7 38475976 38475976 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:38475976C>T uc003tgu.2 - 12 1099 c.1030G>A c.(1030-1032)GAG>AAG p.E344K AMPH_uc003tgv.2_Missense_Mutation_p.E344K|AMPH_uc003tgt.2_Missense_Mutation_p.E97K NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 344 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TTCTTCACCTCAGGGACTTCA 0.428 NaN 0 0 0 0.050027 0 32 33 GRB10 2887 broad.mit.edu 37 7 50663213 50663213 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:50663213C>A uc003tpi.2 - 15 1590 c.1559G>T c.(1558-1560)CGT>CTT p.R520L GRB10_uc003tph.3_Missense_Mutation_p.R462L|GRB10_uc003tpj.2_Missense_Mutation_p.R474L|GRB10_uc003tpk.2_Missense_Mutation_p.R520L|GRB10_uc010kzb.2_Missense_Mutation_p.R462L|GRB10_uc003tpl.2_Missense_Mutation_p.R514L|GRB10_uc003tpm.2_Missense_Mutation_p.R462L|GRB10_uc003tpn.2_Missense_Mutation_p.R462L NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 520 SH2. R->K: No effect on NEDD4-binding. No effect on the disruption of the interaction between INSR and IRS1 and IRS2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity p.R520H(1) lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) CTGGCTGTCACGGAGGAGAAA 0.303 NaN Russell-Silver_syndrome 1 0 6.95862e-65 0.048971 7.71972e-65 137 152 MUC17 140453 broad.mit.edu 37 7 100681563 100681563 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:100681563C>T uc003uxp.1 + 3 6919 c.6866C>T c.(6865-6867)ACG>ATG p.T2289M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2289 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCCACACGCTGGTGGCC 0.478 NaN 0 0 0 0.048971 0 292 342 RELN 5649 broad.mit.edu 37 7 103368593 103368593 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:103368593C>T uc003vca.2 - 7 878 c.718G>A c.(718-720)GTC>ATC p.V240I RELN_uc010liz.2_Missense_Mutation_p.V240I NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 240 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGAAGGTGACGGCATTGCCA 0.433 NaN 0 0 0 0.048971 0 50 59 OR2F1 26211 broad.mit.edu 37 7 143657782 143657782 + Missense_Mutation SNP C C A rs73464588 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:143657782C>A uc003wds.1 + 1 763 c.719C>A c.(718-720)ACG>AAG p.T240K NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) GCTTTCCACACGTGTGCCTCT 0.507 NaN 1 0 8.70839e-23 0.048971 9.41567e-23 80 90 ZNF862 643641 broad.mit.edu 37 7 149558887 149558887 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:149558887G>A uc010lpn.2 + 7 2830 c.2638G>A c.(2638-2640)GAG>AAG p.E880K ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 880 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 CGTGGCACTGGAGAGCCTCCG 0.602 NaN 0 0 0 0.069456 0 39 37 DPP6 1804 broad.mit.edu 37 7 154564587 154564587 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:154564587C>T uc003wlk.2 + 10 1200 c.1071C>T c.(1069-1071)CAC>CAT p.H357H DPP6_uc003wli.2_Silent_p.H293H|DPP6_uc003wlm.2_Silent_p.H295H|DPP6_uc011kvq.1_Silent_p.H250H NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 357 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTCCCTACACGTTATTGGCT 0.453 NaN 0 0 0 0.038395 0 17 13 MYOM2 9172 broad.mit.edu 37 8 2044236 2044236 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:2044236G>A uc003wpx.3 + 18 2413 c.2275G>A c.(2275-2277)GAG>AAG p.E759K MYOM2_uc011kwi.1_Missense_Mutation_p.E184K NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 759 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAACTGGCACGAGGTCAATTC 0.493 NaN 0 0 0 0.069288 0 23 49 DOCK5 80005 broad.mit.edu 37 8 25267711 25267711 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:25267711C>G uc003xeg.2 + 51 5638 c.5501C>G c.(5500-5502)TCC>TGC p.S1834C PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1834 Pro-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CAGAGGAACTCCACTGAGGTA 0.592 NaN 0 0 0 0.024245 0 15 29 RB1CC1 9821 broad.mit.edu 37 8 53568651 53568651 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:53568651T>C uc003xre.3 - 15 4296 c.3738A>G c.(3736-3738)CTA>CTG p.L1246L RB1CC1_uc003xrf.3_Silent_p.L1246L NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 1246 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TAAATTCTTTTAGGGCAGTCT 0.328 NaN 0 0 0 0.041601 0 30 46 C8orf44 56260 broad.mit.edu 37 8 67590131 67590131 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:67590131A>G uc003xwo.1 + 2 341 c.188A>G c.(187-189)AAA>AGA p.K63R SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.K63R NM_019607 NP_062553 Q96CB5 CH044_HUMAN hypothetical protein LOC56260 63 0 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) aggagttcgaaaccagcctgg 0.035 NaN 0 0 0 0.02938 0 5 29 SLCO5A1 81796 broad.mit.edu 37 8 70588853 70588853 + Nonsense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:70588853G>A uc003xyl.2 - 9 2787 c.2080C>T c.(2080-2082)CGA>TGA p.R694* SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.R639*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 694 Helical; Name=11; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAAGTGTTCGCAACAAAACA 0.418 NaN 0 0 0 0.043863 0 20 48 PDP1 54704 broad.mit.edu 37 8 94934630 94934630 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:94934630A>G uc003yge.2 + 2 612 c.343A>G c.(343-345)AAT>GAT p.N115D PDP1_uc003ygf.2_Missense_Mutation_p.N140D|PDP1_uc010max.2_Missense_Mutation_p.N140D|PDP1_uc011lgm.1_Missense_Mutation_p.N115D|PDP1_uc011lgn.1_Missense_Mutation_p.N174D NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 115 NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480). pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 ATTTGACAGCAATCAGCTGCC 0.468 NaN 0 0 0 0.104719 0 41 117 COL22A1 169044 broad.mit.edu 37 8 139609214 139609214 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:139609214C>T uc003yvd.2 - 62 4813 c.4366_splice c.e62-1 p.G1456_splice COL22A1_uc011ljo.1_Splice_Site_p.G736_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAGACTCCCCCTAGGAGGGAG 0.507 NaN HNSCC(7;0.00092) 0 0 0 0.11126 0 44 84 ZNF510 22869 broad.mit.edu 37 9 99522006 99522006 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:99522006C>T uc004awn.1 - 6 1295 c.1106G>A c.(1105-1107)AGA>AAA p.R369K ZNF510_uc004awo.1_Missense_Mutation_p.R369K NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) AGTCTGTGTTCTGTCATTACT 0.388 NaN 0 0 0 0.048971 0 56 41 HSDL2 84263 broad.mit.edu 37 9 115171290 115171290 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115171290C>T uc004bga.1 + 4 477 c.384C>T c.(382-384)GGC>GGT p.G128G HSDL2_uc011lwv.1_Silent_p.G7G|HSDL2_uc004bgb.1_Intron|HSDL2_uc004bgc.1_Intron|HSDL2_uc011lww.1_5'UTR NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 128 peroxisome oxidoreductase activity|sterol binding 0 ACACCAGAGGCACCTACCTTG 0.418 NaN 0 0 0 0.050027 0 28 59 ZFP37 7539 broad.mit.edu 37 9 115805288 115805288 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115805288C>G uc004bgm.1 - 4 1638 c.1610G>C c.(1609-1611)AGA>ACA p.R537T ZFP37_uc011lwz.1_Missense_Mutation_p.R552T|ZFP37_uc011lxa.1_Missense_Mutation_p.R538T NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 537 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGTATGAACTCTCTGATGTTG 0.403 NaN 0 0 0 0.041601 0 30 47 ZFP37 7539 broad.mit.edu 37 9 115805738 115805738 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115805738C>G uc004bgm.1 - 4 1188 c.1160G>C c.(1159-1161)AGA>ACA p.R387T ZFP37_uc011lwz.1_Missense_Mutation_p.R402T|ZFP37_uc011lxa.1_Missense_Mutation_p.R388T NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 387 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGAGCTGTGTCTGAAGGTTTT 0.413 NaN 0 0 0 0.092188 0 41 82 ZFP37 7539 broad.mit.edu 37 9 115806346 115806346 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115806346C>T uc004bgm.1 - 4 580 c.552G>A c.(550-552)TTG>TTA p.L184L ZFP37_uc011lwz.1_Silent_p.L199L|ZFP37_uc011lxa.1_Silent_p.L185L NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 184 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AATTCTGTTTCAAAATTTTTC 0.333 NaN 0 0 0 0.069456 0 39 63 ZFP37 7539 broad.mit.edu 37 9 115806541 115806541 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115806541C>G uc004bgm.1 - 4 385 c.357G>C c.(355-357)CAG>CAC p.Q119H ZFP37_uc011lwz.1_Missense_Mutation_p.Q134H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q120H NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 119 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CATCATCTTTCTGGACTTCTA 0.353 NaN 0 0 0 0.0918 0 26 54 LRSAM1 90678 broad.mit.edu 37 9 130217858 130217858 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:130217858C>G uc004brb.1 + 5 478 c.133C>G c.(133-135)CCA>GCA p.P45A LRSAM1_uc010mxk.1_Missense_Mutation_p.P45A|LRSAM1_uc004brc.1_Missense_Mutation_p.P45A|LRSAM1_uc004brd.1_Missense_Mutation_p.P45A NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 45 LRR 1. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 ATCTTAGATTCCATTTGGAGC 0.438 NaN 0 0 0 0.030593 0 29 60 FAM78A 286336 broad.mit.edu 37 9 134136337 134136337 + Missense_Mutation SNP T T G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:134136337T>G uc004cak.2 - 2 1064 c.724A>C c.(724-726)ATC>CTC p.I242L FAM78A_uc004caj.2_Missense_Mutation_p.I239L NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 242 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TTGCTCAGGATTTTGGGCTGG 0.682 NaN 0 0 0 0.048971 0 58 111 GTF3C4 9329 broad.mit.edu 37 9 135555086 135555086 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:135555086G>A uc010mzv.2 + 2 2338 c.2080G>A c.(2080-2082)GAA>AAA p.E694K GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 694 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AGTCTTAGGAGAAGTGTATCT 0.478 NaN 0 0 0 0.030593 0 30 53 FAM9B 171483 broad.mit.edu 37 X 8997436 8997436 + Missense_Mutation SNP G G A rs12839241 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:8997436G>A uc011mhu.1 - 5 394 c.305C>T c.(304-306)TCT>TTT p.S102F FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.S142F NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 102 nucleus 0 Hepatocellular(5;0.219) CAACTTCAGAGAATGTATATA 0.294 NaN 0 0 0 0.09319 0 12 36 TSPAN6 7105 broad.mit.edu 37 X 99888429 99888429 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:99888429C>T uc004ega.1 - 5 661 c.558G>A c.(556-558)CAG>CAA p.Q186Q TSPAN6_uc010nna.1_Silent_p.Q92Q NM_003270 NP_003261 O43657 TSN6_HUMAN transmembrane 4 superfamily member 6 186 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity ovary(1) 1 CTGCATCTCTCTGTGGAGTAC 0.338 NaN 0 0 0 0.037714 0 29 19 LAMP2 3920 broad.mit.edu 37 X 119589270 119589270 + Silent SNP G G A rs147369153 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:119589270G>A uc004est.3 - 3 519 c.339C>T c.(337-339)AGC>AGT p.S113S LAMP2_uc004ess.3_Silent_p.S113S|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Silent_p.S66S|LAMP2_uc010nqp.1_Silent_p.S113S NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 113 Lumenal (Potential).|First lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 AAAATGAGACGCTGTCAATTG 0.403 NaN 0 0 0 0.064281 0 35 24 MAGEC1 9947 broad.mit.edu 37 X 140993238 140993238 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:140993238G>C uc004fbt.2 + 4 334 c.48G>C c.(46-48)CAG>CAC p.Q16H MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 16 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTCTCCAGAGTTCCTCTG 0.463 NaN HNSCC(15;0.026) 0 0 0 0.039052 0 45 48 MAGEC1 9947 broad.mit.edu 37 X 140995384 140995384 + Nonsense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:140995384C>T uc004fbt.2 + 4 2480 c.2194C>T c.(2194-2196)CAG>TAG p.Q732* MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 732 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GTTTCCTCCTCAGGGGGAGGA 0.542 NaN HNSCC(15;0.026) 0 0 0 0.048971 0 100 84 MTMR1 8776 broad.mit.edu 37 X 149900044 149900044 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:149900044G>A uc004fei.2 + 8 955 c.820G>A c.(820-822)GAT>AAT p.D274N MTMR1_uc011mya.1_Missense_Mutation_p.D180N|MTMR1_uc004feg.1_Missense_Mutation_p.D274N|MTMR1_uc004feh.1_Missense_Mutation_p.D282N|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 274 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGTAAAAGATGATGACCTTTC 0.358 NaN 0 0 0 0.048971 0 52 30 DUSP9 1852 broad.mit.edu 37 X 152915679 152915679 + Silent SNP G G T rs139744131 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:152915679G>T uc004fhx.3 + 4 1278 c.1074G>T c.(1072-1074)GGG>GGT p.G358G DUSP9_uc004fhy.3_Silent_p.G358G NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 358 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGTGGGGGGCAGGCATCTG 0.672 NaN 1 0 0.00198382 0.02938 0.00199318 7 117 ARID1A 8289 broad.mit.edu 37 1 27107085 27107102 + In_Frame_Del DEL GCGGGCTGCCCGCGCGCT GCGGGCTGCCCGCGCGCT - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 GCGGGCTGCCCGCGCGCT - GCGGGCTGCCCGCGCGCT GCGGGCTGCCCGCGCGCT Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT uc001bmv.1 + 20 7069_7086 c.6696_6713delGCGGGCTGCCCGCGCGCT c.(6694-6714)CGGCGGGCTGCCCGCGCGCTG>CGG p.RAARAL2233del ARID1A_uc001bmu.1_In_Frame_Del_p.RAARAL2016del|ARID1A_uc001bmx.1_In_Frame_Del_p.RAARAL1079del|ARID1A_uc009vsm.1_In_Frame_Del_p.RAARAL561del|ARID1A_uc009vsn.1_In_Frame_Del_p.RAARAL475del NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2233_2238 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.L2238fs*40(1)|p.A2235fs*32(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTG 0.573 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 27 123 --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:120612003_120612004delGG uc001eik.2 - 1 273_274 c.17_18delCC c.(16-18)CCCfs p.P6fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.663 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NaN NaN NaN NaN NaN 7 32 --- --- PLEKHA7 144100 broad.mit.edu 37 11 16838371 16838390 + Frame_Shift_Del DEL CCTTGGAGAATCCCCCAGCG CCTTGGAGAATCCCCCAGCG - rs142792914 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG uc001mmo.2 - 11 1838_1857 c.1823_1842delCGCTGGGGGATTCTCCAAGG c.(1822-1842)TCGCTGGGGGATTCTCCAAGGfs p.S608fs PLEKHA7_uc010rcu.1_Frame_Shift_Del_p.S608fs|PLEKHA7_uc010rcv.1_Frame_Shift_Del_p.S182fs|PLEKHA7_uc001mmn.2_Frame_Shift_Del_p.S316fs NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 608_614 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 CCCGTGCCCTCCTTGGAGAATCCCCCAGCGAGATGTCCAC 0.641 NaN NaN NaN NaN NaN NaN 9 72 --- --- MBD6 114785 broad.mit.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:57920934delC uc001soj.1 + 7 2230 c.2006delC c.(2005-2007)GCCfs p.A669fs MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 669 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CCACTTTCAGCCCCCCCTACC 0.642 NaN NaN NaN NaN NaN NaN 28 24 --- --- FLT3 2322 broad.mit.edu 37 13 28609758 28609759 + Frame_Shift_Ins INS - - T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:28609758_28609759insT uc001urw.2 - 12 1552_1553 c.1470_1471insA c.(1468-1473)AAAGTGfs p.K490fs FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Ins_p.K490fs NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 490_491 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCCAAACACTTTTCTGTTAG 0.426 NaN Mis|O AML|ALL NaN NaN NaN NaN NaN 60 126 --- --- FOXA1 3169 broad.mit.edu 37 14 38060758 38060762 + Frame_Shift_Del DEL GCTCC GCTCC - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 GCTCC - GCTCC GCTCC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:38060758_38060762delGCTCC uc001wuf.2 - 2 1539_1543 c.1227_1231delGGAGC c.(1225-1233)TCGGAGCAGfs p.S409fs FOXA1_uc010tpz.1_Frame_Shift_Del_p.S376fs NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 409_411 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TTATGCTGCTGCTCCGAGGAGGACA 0.6 NaN NaN NaN NaN NaN NaN 11 49 --- --- ITGAE 3682 broad.mit.edu 37 17 3661102 3661104 + In_Frame_Del DEL GAC GAC - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:3661102_3661104delGAC uc002fwo.3 - 9 1015_1017 c.916_918delGTC c.(916-918)GTCdel p.V306del NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 306 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCACCACCATGACCTTGGATGCC 0.532 NaN NaN NaN NaN NaN NaN 13 300 --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:17160706_17160707delGA uc002nfe.2 - 11 1320_1321 c.1209_1210delTC c.(1207-1212)TCTCGTfs p.S403fs HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 403_404 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 CTCCCTGAACGAGAGAGAGAGG 0.495 NaN NaN NaN NaN NaN NaN 7 261 --- --- ZNF223 7766 broad.mit.edu 37 19 44564985 44564985 + Frame_Shift_Del DEL G G - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:44564985delG uc002oyf.1 + 4 479 c.226delG c.(226-228)GGGfs p.G76fs ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) CCAAAGGGAAGGGAATTCAGG 0.338 NaN NaN NaN NaN NaN NaN 46 146 --- --- ZFP36L2 678 broad.mit.edu 37 2 43452831 43452832 + Frame_Shift_Ins INS - - C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:43452831_43452832insC uc002rsv.3 - 2 402_403 c.111_112insG c.(109-114)GGGACGfs p.G37fs LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 37_38 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCACAGGCGTCCCCACCGCCT 0.663 NaN NaN NaN NaN NaN NaN 21 19 --- --- ARIH2 10425 broad.mit.edu 37 3 49005998 49005998 + Frame_Shift_Del DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:49005998delC uc003cvb.2 + 7 882 c.570delC c.(568-570)CTCfs p.L190fs ARIH2_uc003cvc.2_Frame_Shift_Del_p.L190fs|ARIH2_uc003cvf.2_Frame_Shift_Del_p.L108fs|ARIH2_uc010hkl.2_Frame_Shift_Del_p.L190fs NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 190 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ACTGTCCACTCCGTACACCAG 0.378 NaN NaN NaN NaN NaN NaN 151 155 --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:42196333delT uc003osd.2 - 18 3916 c.3353delA c.(3352-3354)AAGfs p.K1118fs TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 NaN NaN NaN NaN NaN NaN 8 554 --- --- GIGYF1 64599 broad.mit.edu 37 7 100283947 100283948 + Frame_Shift_Ins INS - - C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:100283947_100283948insC uc003uwg.1 - 8 1812_1813 c.803_804insG c.(802-804)GGAfs p.G268fs NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 268 Poly-Gly. large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCTCCCCCTCCCCGCCCCTC 0.644 NaN NaN NaN NaN NaN NaN 7 186 --- ---