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 ERRFI1 54206 broad.mit.edu 37 1 8073678 8073678 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:8073678C>T uc001aoz.2 - 4 1230 c.981G>A c.(979-981)CCG>CCA p.P327P ERRFI1_uc001apa.1_Silent_p.P252P NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN mitogen-inducible gene 6 protein 327 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity ovary(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GCGAGTTACTCGGTGACAAAG 0.512000 CLCN6 1185 broad.mit.edu 37 1 11894018 11894018 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:11894018G>A uc001ate.3 + 15 1570 c.1457G>A c.(1456-1458)AGT>AAT p.S486N CLCN6_uc010oat.1_Missense_Mutation_p.S202N|CLCN6_uc010oau.1_Missense_Mutation_p.S464N NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 486 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCTGTTCCAAGTGGCCTTTTT 0.423000 PRAMEF1 65121 broad.mit.edu 37 1 12855741 12855741 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:12855741G>A uc001auj.1 + 4 1124 c.1021G>A c.(1021-1023)GGA>AGA p.G341R NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 341 LRR 1. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGAACCCCTCGGAGCTCTGCT 0.532000 CELA2B 51032 broad.mit.edu 37 1 15807638 15807638 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:15807638G>A uc001awl.2 + 3 200 c.175G>A c.(175-177)GGA>AGA p.G59R NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 59 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CCACACCTGCGGAGGGTCCCT 0.622000 PADI2 11240 broad.mit.edu 37 1 17395561 17395561 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:17395561T>G uc001baf.2 - 16 2058 c.1976A>C c.(1975-1977)AAG>ACG p.K659T PADI2_uc010ocm.1_Missense_Mutation_p.K543T NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 659 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GTGCCACCACTTGAAGGTGAA 0.592000 PADI2 11240 broad.mit.edu 37 1 17431375 17431375 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:17431375T>G uc001baf.2 - 2 356 c.274A>C c.(274-276)AAG>CAG p.K92Q PADI2_uc010ocm.1_Missense_Mutation_p.K92Q|PADI2_uc001bag.1_Missense_Mutation_p.K92Q NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 92 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CGTGGTACCTTGTCACTGCTG 0.562000 ZBTB40 9923 broad.mit.edu 37 1 22838278 22838278 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:22838278G>T uc001bft.2 + 12 2623 c.2112G>T c.(2110-2112)CAG>CAT p.Q704H ZBTB40_uc001bfu.2_Missense_Mutation_p.Q704H|ZBTB40_uc009vqi.1_Missense_Mutation_p.Q592H|ZBTB40_uc001bfv.1_Missense_Mutation_p.Q333H NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 704 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAGACAGCCAGCCTGGGGAAC 0.483000 TRIM63 84676 broad.mit.edu 37 1 26385077 26385077 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:26385077T>G uc001bli.1 - 5 771 c.635A>C c.(634-636)AAG>ACG p.K212T NM_032588 NP_115977 Q969Q1 TRI63_HUMAN muscle specific ring finger protein 1 212 Interaction with TTN.|Potential. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CGTGTCAAACTTCTGGCTCAG 0.517000 TNNI3K 51086 broad.mit.edu 37 1 74665404 74665404 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:74665404G>A uc001dge.1 + 2 155 c.139G>A c.(139-141)GAA>AAA p.E47K LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.E47K|TNNI3K_uc001dgd.2_Missense_Mutation_p.E47K|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.E47K|FPGT_uc001dgb.1_Missense_Mutation_p.E47K|FPGT_uc010oqv.1_Missense_Mutation_p.E47K NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform a Error:Variant_position_missing_in_Q59H18_after_alignment cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 AGCGGCTGATGAAAAACAGGA 0.398000 GJA8 2703 broad.mit.edu 37 1 147380514 147380514 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:147380514G>C uc001epu.1 + 2 495 c.432G>C c.(430-432)GAG>GAC p.E144D NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 144 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) TCCGGCTGGAGGGGACCCTGC 0.617000 TMOD4 29765 broad.mit.edu 37 1 151144155 151144155 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:151144155C>T uc001exc.3 - 6 762 c.572G>A c.(571-573)CGA>CAA p.R191Q TMOD4_uc001exb.2_Missense_Mutation_p.R55Q|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.R122Q NM_013353 NP_037485 Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 191 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCATTGCTTCGGACCCTCTT 0.478000 LCE1F 353137 broad.mit.edu 37 1 152748860 152748860 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:152748860C>A uc010pdv.1 + 1 13 c.13C>A c.(13-15)CAG>AAG p.Q5K NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 5 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTTGCCAGCAGAGCCAGCA 0.358000 SHC1 6464 broad.mit.edu 37 1 154938440 154938440 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:154938440G>A uc001ffv.2 - 10 1587 c.1366C>T c.(1366-1368)CGG>TGG p.R456W SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W NM_183001 NP_892113 P29353 SHC1_HUMAN SHC-transforming protein 1 isoform 1 456 Pro-rich.|CH1. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(1)|skin(1) 2 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AACAGGTCCCGGGGTGCACTG 0.562000 CD1C 911 broad.mit.edu 37 1 158259916 158259916 + Splice_Site SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:158259916G>C uc001fru.2 + 1 353 c.61_splice c.e1+1 p.A21_splice CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) AATGCAGACGGTAAGAACATC 0.468000 OR6N1 128372 broad.mit.edu 37 1 158735671 158735671 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:158735671G>C uc010piq.1 - 1 802 c.802C>G c.(802-804)CTG>GTG p.L268V NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCATAGTCCAGTGAGTAGCTC 0.532000 F5 2153 broad.mit.edu 37 1 169519916 169519916 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:169519916G>A uc001ggg.1 - 9 1503 c.1358C>T c.(1357-1359)TCG>TTG p.S453L F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 453 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTCATAAGGCGAGAAGGTCAC 0.393000 KCNT2 343450 broad.mit.edu 37 1 196309469 196309469 + Splice_Site SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:196309469A>C uc001gtd.1 - 16 1843 c.1783_splice c.e16+1 p.G595_splice KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.G545_splice|KCNT2_uc001gtf.1_Splice_Site_p.G595_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.2_Splice_Site_p.G595_splice|KCNT2_uc001gth.1_Splice_Site_p.G116_splice NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GTTTATACTTACCCATGCTGG 0.259000 ASPM 259266 broad.mit.edu 37 1 197097721 197097721 + Silent SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:197097721G>T uc001gtu.2 - 10 3092 c.2835C>A c.(2833-2835)GGC>GGA p.G945G ASPM_uc001gtv.2_Silent_p.G945G|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 945 CH 1. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATCCCAATAAGCCAAGGTGAC 0.403000 TNNI1 7135 broad.mit.edu 37 1 201380578 201380578 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:201380578G>A uc010ppq.1 - 7 456 c.363C>T c.(361-363)GAC>GAT p.D121D TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Silent_p.D100D NM_003281 NP_003272 P19237 TNNI1_HUMAN troponin I, skeletal, slow 121 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 GGAGCATGGCGTCAGCCGAGA 0.597000 USH2A 7399 broad.mit.edu 37 1 216262389 216262389 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:216262389A>G uc001hku.1 - 23 5238 c.4851T>C c.(4849-4851)GCT>GCC p.A1617A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1617 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTGGCCAAAAGCCTGATGCC 0.378000 HNSCC(13;0.011) ESRRG 2104 broad.mit.edu 37 1 216737618 216737618 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:216737618A>T uc001hkw.1 - 5 971 c.805T>A c.(805-807)TGT>AGT p.C269S ESRRG_uc001hky.1_Missense_Mutation_p.C246S|ESRRG_uc009xdp.1_Missense_Mutation_p.C246S|ESRRG_uc001hkz.1_Missense_Mutation_p.C207S|ESRRG_uc010puc.1_Missense_Mutation_p.C246S|ESRRG_uc001hla.1_Missense_Mutation_p.C246S|ESRRG_uc001hlb.1_Missense_Mutation_p.C246S|ESRRG_uc010pud.1_Missense_Mutation_p.C77S|ESRRG_uc001hlc.1_Missense_Mutation_p.C246S|ESRRG_uc001hld.1_Missense_Mutation_p.C246S|ESRRG_uc001hkx.1_Missense_Mutation_p.C281S|ESRRG_uc009xdo.1_Missense_Mutation_p.C246S|ESRRG_uc001hle.1_Missense_Mutation_p.C246S NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 269 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GCCAAGTCACACAGTGTAGTG 0.458000 OR11L1 391189 broad.mit.edu 37 1 248004253 248004253 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:248004253T>C uc001idn.1 - 1 946 c.946A>G c.(946-948)AGT>GGT p.S316G NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCCTTTTACTTGTACTCCAT 0.378000 OR2AK2 391191 broad.mit.edu 37 1 248128748 248128748 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:248128748A>T uc010pzd.1 + 1 115 c.115A>T c.(115-117)AAC>TAC p.N39Y OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 39 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGGCTGGATAAACTCTCTTCT 0.398000 OR2M5 127059 broad.mit.edu 37 1 248309140 248309140 + Nonsense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:248309140G>T uc010pze.1 + 1 691 c.691G>T c.(691-693)GGA>TGA p.G231* NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATGGGATCTGGAGAGGGTCG 0.453000 OR2T1 26696 broad.mit.edu 37 1 248570106 248570106 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:248570106A>T uc010pzm.1 + 1 811 c.811A>T c.(811-813)ATC>TTC p.I271F NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 271 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTATGCCCGAATCCTGACTAC 0.517000 CUBN 8029 broad.mit.edu 37 10 16932428 16932428 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:16932428A>G uc001ioo.2 - 55 8749 c.8697T>C c.(8695-8697)ACT>ACC p.T2899T CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.T255T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2899 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAAGACGGCAGTGAATGTGT 0.577000 CUBN 8029 broad.mit.edu 37 10 17127608 17127608 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:17127608A>C uc001ioo.2 - 16 2150 c.2098T>G c.(2098-2100)TTA>GTA p.L700V NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 700 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTGATGTTAAGTAGGTGATA 0.443000 GPR158 57512 broad.mit.edu 37 10 25755587 25755587 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:25755587G>A uc001isj.2 + 5 1403 c.1343G>A c.(1342-1344)CGG>CAG p.R448Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 448 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CAGAGCATCCGGGCATCGGGC 0.363000 LYZL2 119180 broad.mit.edu 37 10 30915179 30915179 + Silent SNP C C T rs150345728 by1000genomes TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:30915179C>T uc001ivk.2 - 3 304 c.291G>A c.(289-291)GCG>GCA p.A97A NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 51 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) TCTCATAATACGCCATGCAGA 0.557000 RET 5979 broad.mit.edu 37 10 43610164 43610164 + Missense_Mutation SNP G G A rs137855422 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:43610164G>A uc001jal.2 + 11 2306 c.2116G>A c.(2116-2118)GTG>ATG p.V706M RET_uc001jak.1_Missense_Mutation_p.V706M|RET_uc010qez.1_Missense_Mutation_p.V452M NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 706 Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CCAGGTCTCCGTGGATGCCTT 0.677000 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma PCDH15 65217 broad.mit.edu 37 10 55700715 55700715 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:55700715A>C uc001jju.1 - 24 3538 c.3143T>G c.(3142-3144)CTT>CGT p.L1048R PCDH15_uc010qhq.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060R|PCDH15_uc010qht.1_Missense_Mutation_p.L1055R|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011R|PCDH15_uc010qhx.1_Missense_Mutation_p.L977R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048R|PCDH15_uc010qia.1_Missense_Mutation_p.L1026R|PCDH15_uc010qib.1_Missense_Mutation_p.L1026R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1048 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTTGGTGGCAAGTTCACTTAC 0.308000 HNSCC(58;0.16) HERC4 26091 broad.mit.edu 37 10 69684937 69684937 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:69684937T>G uc001jng.3 - 25 3181 c.2870A>C c.(2869-2871)GAA>GCA p.E957A HERC4_uc009xpq.2_Missense_Mutation_p.E489A|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.E949A|HERC4_uc009xpr.2_Missense_Mutation_p.E879A|HERC4_uc001jni.3_Missense_Mutation_p.E693A NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 957 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 CCCTTTGTATTCTGTATTCTA 0.328000 POLR3A 11128 broad.mit.edu 37 10 79777454 79777454 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:79777454C>T uc001jzn.2 - 10 1404 c.1310G>A c.(1309-1311)CGA>CAA p.R437Q NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 437 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CATCTTTTCTCGATTTCCGTA 0.438000 GRID1 2894 broad.mit.edu 37 10 87966198 87966198 + Missense_Mutation SNP C C T rs150264113 by1000genomes TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:87966198C>T uc001kdl.1 - 3 544 c.443G>A c.(442-444)CGC>CAC p.R148H GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 148 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATCATTGAGGCGGACGGGTGG 0.622000 Multiple Myeloma(13;0.14) CPXM2 119587 broad.mit.edu 37 10 125622198 125622198 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr10:125622198A>T uc001lhk.1 - 3 770 c.445T>A c.(445-447)TTC>ATC p.F149I CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 149 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TGGAGCTGGAAGTCTGTGATT 0.502000 OR52N1 79473 broad.mit.edu 37 11 5809914 5809914 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:5809914A>C uc010qzo.1 - 1 133 c.133T>G c.(133-135)TTC>GTC p.F45V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATAAGGCCGAAGTTCCCTGTA 0.463000 ZNF215 7762 broad.mit.edu 37 11 6977491 6977491 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:6977491T>G uc001mey.2 + 7 1871 c.1283T>G c.(1282-1284)CTT>CGT p.L428R ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.L190R|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 428 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CATCAAAAACTTCATGCTGAA 0.393000 OR4C11 219429 broad.mit.edu 37 11 55371231 55371231 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:55371231T>G uc010rii.1 - 1 619 c.619A>C c.(619-621)AGT>CGT p.S207R NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGAAACTACTTGAGCAAATT 0.423000 RTN3 10313 broad.mit.edu 37 11 63487876 63487876 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:63487876T>C uc001nxq.2 + 3 2089 c.1902T>C c.(1900-1902)TAT>TAC p.Y634Y RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.Y615Y|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.Y522Y|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 634 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 CATCTGCCTATTTGGAGTCAT 0.373000 C2CD3 26005 broad.mit.edu 37 11 73811600 73811600 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:73811600A>C uc001ouu.2 - 15 2929 c.2702T>G c.(2701-2703)CTT>CGT p.L901R NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 901 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GTGGAGGGGAAGTTTCACCAG 0.418000 USP35 57558 broad.mit.edu 37 11 77907439 77907439 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:77907439G>A uc009yva.1 + 2 394 c.148G>A c.(148-150)GTG>ATG p.V50M USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 50 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GCGCCTCTACGTGGGCGGCGC 0.766000 PDGFD 80310 broad.mit.edu 37 11 103797824 103797824 + Missense_Mutation SNP T T C rs138058754 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:103797824T>C uc001phq.2 - 6 1175 c.803A>G c.(802-804)AAG>AGG p.K268R PDGFD_uc001php.2_Missense_Mutation_p.K262R NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 268 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) ACTGTAACGCTTGGCATCATC 0.468000 ARHGAP20 57569 broad.mit.edu 37 11 110450220 110450220 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:110450220A>C uc001pkz.1 - 16 3735 c.3450T>G c.(3448-3450)TCT>TCG p.S1150S ARHGAP20_uc001pky.1_Silent_p.S1127S|ARHGAP20_uc009yyb.1_Silent_p.S1114S|ARHGAP20_uc001pla.1_Silent_p.S1114S|ARHGAP20_uc001plb.2_Silent_p.S693S NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1150 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GAGAACCAGAAGAGCTCTGAC 0.537000 OR4D5 219875 broad.mit.edu 37 11 123810804 123810804 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:123810804G>T uc001pzk.1 + 1 481 c.481G>T c.(481-483)GCA>TCA p.A161S NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGTACAGATTGCATTGACTAT 0.507000 OR10S1 219873 broad.mit.edu 37 11 123847867 123847867 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:123847867A>G uc001pzm.1 - 1 532 c.532T>C c.(532-534)TTC>CTC p.F178L NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGCAGGCGGAAGGTGAGGGAG 0.557000 THYN1 29087 broad.mit.edu 37 11 134118356 134118356 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:134118356G>T uc001qhf.2 - 8 756 c.654C>A c.(652-654)AGC>AGA p.S218R THYN1_uc001qhg.2_Missense_Mutation_p.S218R|THYN1_uc001qhh.2_Missense_Mutation_p.S218R|THYN1_uc001qhi.2_3'UTR|THYN1_uc001qhj.2_3'UTR NM_001037305 NP_001032382 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 isoform 1 218 nucleus 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) TTTCCTCCAGGCTCAAAACAA 0.418000 B3GAT1 27087 broad.mit.edu 37 11 134257495 134257495 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr11:134257495A>G uc001qhq.2 - 3 320 c.59T>C c.(58-60)CTC>CCC p.L20P B3GAT1_uc001qhr.2_Missense_Mutation_p.L20P|B3GAT1_uc010scv.1_Missense_Mutation_p.L33P NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 20 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GACAGTGATGAGCAGAGTCCA 0.627000 DCP1B 196513 broad.mit.edu 37 12 2102462 2102462 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:2102462T>C uc001qjx.1 - 3 367 c.287A>G c.(286-288)CAG>CGG p.Q96R DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.Q96R NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 96 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) GAAAGGGTCCTGGAGTTGGAA 0.398000 CLEC2B 9976 broad.mit.edu 37 12 10005914 10005914 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:10005914C>T uc001qwn.2 - 5 1092 c.435G>A c.(433-435)AGG>AGA p.R145R NM_005127 NP_005118 Q92478 CLC2B_HUMAN C-type lectin, superfamily member 2 145 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding 0 GTATTCTTTTCCTGCAAATCC 0.363000 CLEC9A 283420 broad.mit.edu 37 12 10213760 10213760 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:10213760A>C uc001qxa.2 + 6 820 c.207A>C c.(205-207)CAA>CAC p.Q69H NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 69 Extracellular (Potential). positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TGCAGCAGCAAGAAAAACTCA 0.403000 C12orf39 80763 broad.mit.edu 37 12 21679829 21679829 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:21679829A>C uc001rfa.1 + 2 167 c.16A>C c.(16-18)AGT>CGT p.S6R C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 6 extracellular region|nucleus|transport vesicle 0 GGGACTCAGAAGTCTGGCAGC 0.443000 PLEKHA9 51054 broad.mit.edu 37 12 45567563 45567563 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:45567563A>C uc001rom.1 - 3 1123 c.586T>G c.(586-588)TTT>GTT p.F196V PLEKHA9_uc009zke.2_Missense_Mutation_p.F196V NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) ATGGTACTAAAGAAAGTTGGG 0.438000 MAP3K12 7786 broad.mit.edu 37 12 53876660 53876660 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:53876660A>G uc001sdm.1 - 12 1926 c.1828T>C c.(1828-1830)TCC>CCC p.S610P MAP3K12_uc001sdn.1_Missense_Mutation_p.S643P NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 610 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 AGGTCTGGGGACGATGAAGAC 0.706000 ATP5B 506 broad.mit.edu 37 12 57037207 57037207 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:57037207A>C uc001slr.2 - 5 877 c.772T>G c.(772-774)TTA>GTA p.L258V NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 258 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 GCATCTTTTAAGTTGATAACA 0.418000 RDH16 8608 broad.mit.edu 37 12 57351064 57351064 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:57351064C>T uc001smi.3 - 1 355 c.183G>A c.(181-183)CTG>CTA p.L61L RDH16_uc009zpa.2_Missense_Mutation_p.D3N|RDH16_uc010sqx.1_RNA NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 61 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 CTTTCTCCGTCAGACATGCAG 0.597000 KIF5A 3798 broad.mit.edu 37 12 57972098 57972098 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:57972098G>A uc001sor.1 + 23 2719 c.2511G>A c.(2509-2511)CTG>CTA p.L837L KIF5A_uc010srr.1_Silent_p.L748L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 837 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 AGAACAACCTGGAACAGCTTA 0.473000 TSFM 10102 broad.mit.edu 37 12 58180066 58180066 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:58180066T>C uc001sqi.2 + 3 401 c.352T>C c.(352-354)TTA>CTA p.L118L TSFM_uc010sse.1_Silent_p.L78L|TSFM_uc001sqh.2_Silent_p.L118L|TSFM_uc010ssf.1_Silent_p.L118L NM_005726 NP_005717 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 118 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity 0 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CACAACTGTATTAGTAGAGGT 0.507000 ANO4 121601 broad.mit.edu 37 12 101437374 101437374 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:101437374T>C uc010svm.1 + 13 1784 c.1212T>C c.(1210-1212)TGT>TGC p.C404C ANO4_uc001thw.2_Silent_p.C369C|ANO4_uc001thx.2_Silent_p.C404C NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 404 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 ATAAATACTGTCCATTCATGA 0.388000 HNSCC(74;0.22) SLC15A4 121260 broad.mit.edu 37 12 129294499 129294499 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:129294499C>T uc001uhu.2 - 3 1053 c.1000G>A c.(1000-1002)GTG>ATG p.V334M SLC15A4_uc001uhv.2_Intron NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 334 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TGGAAATACACTGTCCAGTAA 0.413000 FZD10 11211 broad.mit.edu 37 12 130648416 130648416 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr12:130648416C>T uc001uii.2 + 1 1385 c.929C>T c.(928-930)ACG>ATG p.T310M uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 310 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) ACCGGCTGCACGCTGGTCTTC 0.662000 TNFRSF19 55504 broad.mit.edu 37 13 24243121 24243121 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr13:24243121G>T uc001uov.1 + 9 1194 c.1130G>T c.(1129-1131)AGA>ATA p.R377I TNFRSF19_uc001uot.2_Missense_Mutation_p.R377I|TNFRSF19_uc010tcu.1_Missense_Mutation_p.R245I|TNFRSF19_uc001uow.2_Missense_Mutation_p.R377I NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 377 Cytoplasmic (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) GATTTATCTAGATATAACAAC 0.443000 TRPC4 7223 broad.mit.edu 37 13 38229240 38229240 + Silent SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr13:38229240A>T uc001uws.2 - 7 2104 c.1869T>A c.(1867-1869)TCT>TCA p.S623S TRPC4_uc010abv.2_Silent_p.S203S|TRPC4_uc001uwt.2_Silent_p.S623S|TRPC4_uc010tey.1_Silent_p.S623S|TRPC4_uc010abw.2_Silent_p.S450S|TRPC4_uc010abx.2_Silent_p.S623S|TRPC4_uc010aby.2_Silent_p.S623S NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 623 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCAGTTGGTAAGAATTATTCA 0.343000 RB1 5925 broad.mit.edu 37 13 49039378 49039378 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr13:49039378G>A uc001vcb.2 + 23 2529 c.2363G>A c.(2362-2364)AGC>AAC p.S788N NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 788 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTCCTCGAAGCCCTTACAAG 0.398000 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) TRIM13 10206 broad.mit.edu 37 13 50586183 50586183 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr13:50586183G>C uc001vdq.1 + 3 420 c.107G>C c.(106-108)GGT>GCT p.G36A DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdp.1_Missense_Mutation_p.G39A|TRIM13_uc001vdr.1_Missense_Mutation_p.G36A|TRIM13_uc001vds.1_Missense_Mutation_p.G36A NM_052811 NP_434698 O60858 TRI13_HUMAN ret finger protein 2 isoform 1 36 RING-type. anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TGCTTAGAAGGTATCTTAGAA 0.448000 OR11H4 390442 broad.mit.edu 37 14 20711736 20711736 + Nonsense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:20711736T>G uc010tld.1 + 1 786 c.786T>G c.(784-786)TAT>TAG p.Y262* NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 262 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) CTCTTTTCTATGGGACAGTCA 0.423000 NYNRIN 57523 broad.mit.edu 37 14 24879194 24879194 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:24879194G>C uc001wpf.3 + 4 2512 c.2194G>C c.(2194-2196)GCC>CCC p.A732P NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 732 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGGCACCTTGGCCCTCAGCAG 0.627000 GZMH 2999 broad.mit.edu 37 14 25075923 25075923 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:25075923C>G uc001wpr.1 - 5 672 c.627G>C c.(625-627)AAG>AAC p.K209N GZMH_uc010aly.1_Missense_Mutation_p.K123N|GZMH_uc010alz.1_Missense_Mutation_p.R78T NM_033423 NP_219491 P20718 GRAH_HUMAN granzyme H precursor 209 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(265;0.0267) GGGCTACGTCCTTACACACGA 0.512000 MDGA2 161357 broad.mit.edu 37 14 47426781 47426781 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:47426781T>G uc001wwj.3 - 9 1874 c.1678A>C c.(1678-1680)AGT>CGT p.S560R MDGA2_uc001wwi.3_Missense_Mutation_p.S331R|MDGA2_uc010ani.2_Missense_Mutation_p.S120R NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 560 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ACTCTGCAACTCATAGTGACA 0.453000 NAA30 122830 broad.mit.edu 37 14 57858422 57858422 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:57858422C>A uc001xcx.3 + 2 901 c.747C>A c.(745-747)CAC>CAA p.H249Q NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 249 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 ATTTTATCCACAACTGGCCAC 0.473000 ZBTB1 22890 broad.mit.edu 37 14 64989463 64989463 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:64989463T>G uc001xhh.3 + 4 1672 c.1241T>G c.(1240-1242)GTA>GGA p.V414G ZBTB1_uc010aqg.2_Missense_Mutation_p.V414G|ZBTB1_uc001xhi.2_Missense_Mutation_p.V414G NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AGCAGTCCAGTACAAGAGGAT 0.413000 RBM25 58517 broad.mit.edu 37 14 73577559 73577559 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:73577559G>A uc001xno.2 + 15 1921 c.1713G>A c.(1711-1713)AGG>AGA p.R571R RBM25_uc010ttu.1_Silent_p.R571R|RBM25_uc001xnp.2_Silent_p.R366R NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 571 Necessary for nuclear speckle localization.|Glu-rich. RRRQ -> EAQE (in Ref. 8; AAC41999). apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AGGCTGAGAGGCGCAGGCAGC 0.303000 SERPINA12 145264 broad.mit.edu 37 14 94964633 94964633 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:94964633G>A uc001ydj.2 - 3 898 c.102C>T c.(100-102)AGC>AGT p.S34S NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 34 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) CTTGGACCTCGCTCAAAGCTT 0.498000 CDC42BPB 9578 broad.mit.edu 37 14 103447159 103447159 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:103447159G>A uc001ymi.1 - 8 1323 c.1091C>T c.(1090-1092)CCC>CTC p.P364L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 364 AGC-kinase C-terminal. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGTGTCAGAGGGACTGCTCAC 0.458000 AHNAK2 113146 broad.mit.edu 37 14 105421322 105421322 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr14:105421322T>C uc010axc.1 - 6 743 c.623A>G c.(622-624)CAG>CGG p.Q208R AHNAK2_uc001ypx.2_Missense_Mutation_p.Q108R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 208 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCCGTGCTGGGCATCGCT 0.602000 ATP10A 57194 broad.mit.edu 37 15 25924926 25924926 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:25924926A>G uc010ayu.2 - 21 4168 c.4062T>C c.(4060-4062)TCT>TCC p.S1354S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1354 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTGTGTGCCAAGAAGGCTGGG 0.642000 CASC4 113201 broad.mit.edu 37 15 44695301 44695301 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:44695301A>C uc001zto.1 + 9 1588 c.1289A>C c.(1288-1290)AAG>ACG p.K430T CASC4_uc001ztp.2_Intron|CASC4_uc001ztq.2_Intron NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 430 Lumenal (Potential). integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CCCACCTCTAAGTTTTTTGGT 0.368000 DUOXA2 405753 broad.mit.edu 37 15 45408922 45408922 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:45408922G>A uc001zuo.2 + 4 829 c.549G>A c.(547-549)ACG>ACA p.T183T DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN dual oxidase activator 2 183 Extracellular (Potential). protein transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CCTCGGCCACGCTATGGTAAG 0.647000 KIAA1370 56204 broad.mit.edu 37 15 52902400 52902400 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:52902400C>T uc002acg.3 - 6 864 c.711G>A c.(709-711)GAG>GAA p.E237E KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.E149E|KIAA1370_uc010ugf.1_Silent_p.E244E NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 237 0 all cancers(107;0.0803) GAATTCTTTTCTCATAAAGGC 0.388000 IGDCC4 57722 broad.mit.edu 37 15 65688265 65688265 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:65688265C>G uc002aou.1 - 7 1444 c.1234G>C c.(1234-1236)GGA>CGA p.G412R IGDCC4_uc002aot.1_5'UTR NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 412 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CACGCCATTCCCGCGCTGTTC 0.716000 KIAA1024 23251 broad.mit.edu 37 15 79750473 79750473 + Missense_Mutation SNP C C T rs147214893 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:79750473C>T uc002bew.1 + 2 2059 c.1984C>T c.(1984-1986)CGG>TGG p.R662W KIAA1024_uc010unk.1_Missense_Mutation_p.R662W NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 662 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TGCCTCTCCCCGGATGTTCCA 0.542000 AGBL1 123624 broad.mit.edu 37 15 86791088 86791088 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr15:86791088A>G uc002blz.1 + 6 655 c.575A>G c.(574-576)GAG>GGG p.E192G NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 192 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CAGGGCATGGAGATCCTCTTC 0.612000 ITFG3 83986 broad.mit.edu 37 16 304607 304607 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:304607C>T uc002cgf.2 + 3 390 c.195C>T c.(193-195)GTC>GTT p.V65V ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V65V|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.V65V NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 65 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TGGTGTTCGTCGTCTCATTCG 0.597000 TAOK2 9344 broad.mit.edu 37 16 29994606 29994606 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:29994606G>C uc002dva.1 + 12 1996 c.1213G>C c.(1213-1215)GGG>CGG p.G405R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.G405R|TAOK2_uc002dvc.1_Missense_Mutation_p.G405R|TAOK2_uc010bzm.1_Missense_Mutation_p.G412R|TAOK2_uc002dvd.1_Missense_Mutation_p.G232R NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 405 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GATGCAGGAGGGGGAGCACAC 0.488000 DNAJA2 10294 broad.mit.edu 37 16 46991100 46991100 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:46991100T>G uc002eeo.2 - 9 1222 c.1080A>C c.(1078-1080)GAA>GAC p.E360D DNAJA2_uc002eep.2_Missense_Mutation_p.E277D NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 360 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TGTTAGGAACTTCCGGTCTAG 0.393000 CES1 1066 broad.mit.edu 37 16 55862829 55862829 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:55862829T>G uc002eim.2 - 2 215 c.107A>C c.(106-108)AAG>ACG p.K36T CES1_uc002eil.2_Missense_Mutation_p.K37T|CES1_uc002ein.2_Missense_Mutation_p.K36T NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 36 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GCTGACGAACTTCCCCAGCAC 0.557000 DOK4 55715 broad.mit.edu 37 16 57507377 57507377 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:57507377G>A uc010cdb.2 - 8 1191 c.893C>T c.(892-894)TCG>TTG p.S298L DOK4_uc002elu.1_Missense_Mutation_p.S337L|DOK4_uc002elv.3_Missense_Mutation_p.S298L NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 298 insulin receptor binding skin(1) 1 GTCTGTTTCCGAGCTGGCCTG 0.592000 DPEP3 64180 broad.mit.edu 37 16 68014254 68014254 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:68014254G>A uc002evc.3 - 1 199 c.105C>T c.(103-105)CGC>CGT p.R35R DPEP3_uc010cex.2_Silent_p.R35R NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 10 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GGCTGAGCGCGCGGGAACCCT 0.647000 HYDIN 54768 broad.mit.edu 37 16 71196439 71196439 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:71196439A>G uc002ezr.2 - 6 839 c.711T>C c.(709-711)ACT>ACC p.T237T HYDIN_uc010cfz.1_Intron|HYDIN_uc002ezv.2_Silent_p.T237T|HYDIN_uc010vmc.1_Silent_p.T254T|HYDIN_uc010vmd.1_Silent_p.T264T|HYDIN_uc002ezw.3_Silent_p.T254T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 237 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CATACCTACAAGTTTTGATGT 0.388000 ZFHX3 463 broad.mit.edu 37 16 72994020 72994020 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:72994020C>T uc002fck.2 - 2 698 c.25G>A c.(25-27)GTC>ATC p.V9I ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 9 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TTCCCCGAGACGACGGGCGAG 0.517000 C16orf55 124045 broad.mit.edu 37 16 89735830 89735830 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr16:89735830G>A uc002fnw.1 + 3 345 c.345G>A c.(343-345)CCG>CCA p.P115P C16orf55_uc010vpk.1_Silent_p.P116P|C16orf55_uc002fny.1_RNA NM_153025 NP_694570 Q96N06 CP055_HUMAN hypothetical protein LOC124045 115 0 all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0274) TTCGGGAGCCGGAGGACTGGG 0.557000 GEMIN4 50628 broad.mit.edu 37 17 649624 649624 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:649624G>A uc002frs.1 - 2 1778 c.1659C>T c.(1657-1659)GTC>GTT p.V553V NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 553 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GGTGCACTATGACCAGGCGGG 0.557000 KIAA0753 9851 broad.mit.edu 37 17 6499612 6499612 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:6499612A>C uc002gde.3 - 15 2583 c.2224T>G c.(2224-2226)TTG>GTG p.L742V KIAA0753_uc010vtd.1_Missense_Mutation_p.L198V|KIAA0753_uc010clo.2_Missense_Mutation_p.L443V|KIAA0753_uc010vte.1_Missense_Mutation_p.L443V NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 742 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) CAATCTTCCAAAAAATCATCA 0.363000 TP53 7157 broad.mit.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T rs121912657 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:7577124C>T uc002gim.2 - 8 1008 c.814G>A c.(814-816)GTG>ATG p.V272M TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 272 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) CAAACACGCACCTCAAAGCTG 0.527000 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) MYH8 4626 broad.mit.edu 37 17 10315972 10315972 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:10315972G>A uc002gmm.2 - 13 1316 c.1221C>T c.(1219-1221)GTC>GTT p.V407V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 407 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TGCCAACCTTGACCCTAGGGT 0.507000 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling KRT27 342574 broad.mit.edu 37 17 38938425 38938425 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:38938425C>T uc002hvg.2 - 1 362 c.321G>A c.(319-321)GAG>GAA p.E107E NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 107 Rod.|Coil 1A. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) CAGCGTTGGCCTCCTCTAGGG 0.527000 TBC1D16 125058 broad.mit.edu 37 17 77922698 77922698 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:77922698T>A uc002jxj.2 - 8 1630 c.1514A>T c.(1513-1515)GAA>GTA p.E505V TBC1D16_uc002jxh.2_Missense_Mutation_p.E143V|TBC1D16_uc002jxi.2_Missense_Mutation_p.E130V|TBC1D16_uc002jxk.1_Missense_Mutation_p.E143V NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 505 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GGGATTGTCTTCCCCCCGGAA 0.567000 EPB41L3 23136 broad.mit.edu 37 18 5419826 5419826 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr18:5419826A>C uc002kmt.1 - 12 1476 c.1390T>G c.(1390-1392)TTG>GTG p.L464V EPB41L3_uc010wzh.1_Missense_Mutation_p.L482V|EPB41L3_uc002kmu.1_Missense_Mutation_p.L482V|EPB41L3_uc010dkq.1_Missense_Mutation_p.L373V|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.L43V NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 464 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GTGGTGATCAAGTTGGTCTGA 0.328000 C18orf34 374864 broad.mit.edu 37 18 30672862 30672862 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr18:30672862C>G uc002kxn.2 - 20 2393 c.2251G>C c.(2251-2253)GAT>CAT p.D751H C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.D751H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D713H|C18orf34_uc002kxp.2_Missense_Mutation_p.D751H NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 751 ovary(1) 1 TCAAGTGAATCAGCTATTATT 0.244000 SERPINB3 6317 broad.mit.edu 37 18 61323110 61323110 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr18:61323110G>A uc002lji.2 - 8 1098 c.954C>T c.(952-954)ACC>ACT p.T318T SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Silent_p.T266T NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 318 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CGCGGCTCCCGGTCATGCCTG 0.547000 DSEL 92126 broad.mit.edu 37 18 65180418 65180418 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr18:65180418A>C uc002lke.1 - 2 2682 c.1458T>G c.(1456-1458)ACT>ACG p.T486T NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 476 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TGGGGGCAAAAGTAAATGAGT 0.438000 TNFSF14 8740 broad.mit.edu 37 19 6665138 6665138 + Silent SNP G G A rs141976417 byFrequency TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:6665138G>A uc002mfk.1 - 5 904 c.522C>T c.(520-522)CCC>CCT p.P174P TNFSF14_uc002mfj.1_Silent_p.P138P NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 174 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CCAGCTCCTCGGGGTAGCGGG 0.672000 ARHGEF18 23370 broad.mit.edu 37 19 7505323 7505323 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:7505323G>T uc002mgi.2 + 1 750 c.497G>T c.(496-498)GGT>GTT p.G166V ARHGEF18_uc010xjm.1_Missense_Mutation_p.G8V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G8V NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 166 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) CAGAAAGGGGGTCCCCAGCCA 0.692000 ATG4D 84971 broad.mit.edu 37 19 10657622 10657622 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:10657622C>T uc002mov.2 + 4 721 c.601C>T c.(601-603)CAG>TAG p.Q201* ATG4D_uc010xlg.1_Nonsense_Mutation_p.Q224*|ATG4D_uc010xlh.1_Nonsense_Mutation_p.Q138*|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 201 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ACGCTGGGCCCAGGGTGCCCC 0.721000 QTRT1 81890 broad.mit.edu 37 19 10812361 10812361 + Nonsense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:10812361C>G uc002mpr.2 + 1 250 c.225C>G c.(223-225)TAC>TAG p.Y75* NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 75 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCAATACCTACCATCTGGGTC 0.682000 NWD1 284434 broad.mit.edu 37 19 16918918 16918918 + Missense_Mutation SNP C C T rs147984852 byFrequency TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:16918918C>T uc002neu.3 + 18 4680 c.4258C>T c.(4258-4260)CGC>TGC p.R1420C NWD1_uc002net.3_Missense_Mutation_p.R1285C|NWD1_uc002nev.3_Missense_Mutation_p.R1214C Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1420 WD 12. ATP binding skin(3)|ovary(2)|pancreas(2) 7 CCTGCAGGCACGCAAGTGGAA 0.577000 PIK3R2 5296 broad.mit.edu 37 19 18280081 18280081 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:18280081G>A uc002nia.1 + 16 2676 c.2164G>A c.(2164-2166)GGC>AGC p.G722S PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 722 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 cccgggccccggcccgccgcc 0.592000 ZNF536 9745 broad.mit.edu 37 19 30935611 30935611 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:30935611G>A uc002nsu.1 + 2 1280 c.1142G>A c.(1141-1143)CGC>CAC p.R381H ZNF536_uc010edd.1_Missense_Mutation_p.R381H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 381 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGCGGCCGGCGCTTCAAGGAG 0.602000 LGI4 163175 broad.mit.edu 37 19 35616357 35616357 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:35616357C>T uc002nxx.2 - 9 1948 c.1354G>A c.(1354-1356)GGT>AGT p.G452S LGI4_uc002nxy.1_Missense_Mutation_p.G280S|LGI4_uc002nxz.1_3'UTR NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 452 EAR 4. extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACGTGGGCACCGCGCGAGGGA 0.662000 CEACAM1 634 broad.mit.edu 37 19 43026105 43026105 + Missense_Mutation SNP C C A rs139266169 byFrequency TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:43026105C>A uc002otv.2 - 3 787 c.674G>T c.(673-675)CGC>CTC p.R225L uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.R225L|CEACAM1_uc010eij.2_Missense_Mutation_p.R225L|CEACAM1_uc002otx.2_Missense_Mutation_p.R225L|CEACAM1_uc002oty.2_Missense_Mutation_p.R225L|CEACAM1_uc002otz.2_Missense_Mutation_p.R225L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.R225L|CEACAM1_uc002oub.2_Missense_Mutation_p.R225L|CEACAM1_uc002ouc.2_Missense_Mutation_p.R225L NM_001712 NP_001703 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion 225 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction ovary(1)|central_nervous_system(1) 2 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TGGGTCACTGCGGTTCGCACT 0.552000 LIG1 3978 broad.mit.edu 37 19 48660279 48660279 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:48660279C>T uc002pia.1 - 5 482 c.362G>A c.(361-363)CGT>CAT p.R121H LIG1_uc010xze.1_5'Flank|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R121H|LIG1_uc010xzg.1_Missense_Mutation_p.R91H|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 121 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) ACCTGTGCGACGCTTCGGAAT 0.463000 NER PLEKHA4 57664 broad.mit.edu 37 19 49364712 49364712 + Nonsense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:49364712G>T uc002pkx.2 - 5 863 c.312C>A c.(310-312)TAC>TAA p.Y104* PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Nonsense_Mutation_p.Y104* NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 104 PH. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTCTAATATTGTAGCTGGGGA 0.612000 ZNF473 25888 broad.mit.edu 37 19 50549550 50549550 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:50549550G>A uc002prn.2 + 5 2087 c.1850G>A c.(1849-1851)AGG>AAG p.R617K ZNF473_uc002prm.2_Missense_Mutation_p.R617K|ZNF473_uc010ybo.1_Missense_Mutation_p.R605K NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 617 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCTAGAGTGAGGCTGTATAAA 0.483000 RPL28 6158 broad.mit.edu 37 19 55897997 55897997 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr19:55897997G>C uc002qkv.2 + 3 183 c.141G>C c.(139-141)AAG>AAC p.K47N uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.K47N|RPL28_uc010yfy.1_Missense_Mutation_p.K47N|RPL28_uc010yga.1_Missense_Mutation_p.K47N|RPL28_uc010ygb.1_Missense_Mutation_p.K47N|RPL28_uc002qkw.1_Missense_Mutation_p.K47N NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 47 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TTCACCGCAAGACTGTGGGCG 0.597000 TPO 7173 broad.mit.edu 37 2 1488374 1488374 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:1488374A>T uc002qww.2 + 9 1436 c.1345A>T c.(1345-1347)ACC>TCC p.T449S TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.T449S|TPO_uc002qwr.2_Missense_Mutation_p.T449S|TPO_uc002qwx.2_Missense_Mutation_p.T449S|TPO_uc010yio.1_Missense_Mutation_p.T276S|TPO_uc010yip.1_Missense_Mutation_p.T449S|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 449 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACAGATCATCACCCTGAGGGA 0.582000 CDKL4 344387 broad.mit.edu 37 2 39417521 39417521 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:39417521C>G uc002rrm.2 - 5 577 c.577G>C c.(577-579)GAG>CAG p.E193Q CDKL4_uc010fal.1_Missense_Mutation_p.E193Q NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 193 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) GTCAGGAGCTCTGCAAAAACA 0.438000 LRPPRC 10128 broad.mit.edu 37 2 44171034 44171034 + Splice_Site SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:44171034C>T uc002rtr.2 - 23 2355 c.2297_splice c.e23-1 p.D766_splice LRPPRC_uc010yob.1_Splice_Site_p.D666_splice NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAATAGCATCTACAATGAAG 0.368000 NRXN1 9378 broad.mit.edu 37 2 50765687 50765687 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:50765687C>A uc010fbq.2 - 10 3444 c.1967G>T c.(1966-1968)GGG>GTG p.G656V NRXN1_uc002rxb.3_Missense_Mutation_p.G288V|NRXN1_uc002rxe.3_Missense_Mutation_p.G616V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 220 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGCAGCCCCCCCAGGTACAA 0.517000 ZNF2 7549 broad.mit.edu 37 2 95847715 95847715 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:95847715A>G uc002suf.2 + 6 1601 c.1139A>G c.(1138-1140)CAG>CGG p.Q380R ZNF2_uc002sug.2_Missense_Mutation_p.Q338R|ZNF2_uc010yue.1_Missense_Mutation_p.Q343R|ZNF2_uc010fhs.2_Missense_Mutation_p.Q301R NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 380 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) GCCTTTAGCCAGCGGTGCCGG 0.507000 VWA3B 200403 broad.mit.edu 37 2 98797648 98797648 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:98797648G>A uc002syo.2 + 9 1548 c.1284G>A c.(1282-1284)CCG>CCA p.P428P VWA3B_uc010yvh.1_Silent_p.P278P|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.P428P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P85P NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 428 ovary(3)|large_intestine(2)|skin(1) 6 AAGCCAAACCGGAGAATGAGT 0.572000 CNTNAP5 129684 broad.mit.edu 37 2 125405518 125405518 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:125405518G>A uc002tno.2 + 13 2421 c.2057G>A c.(2056-2058)CGC>CAC p.R686H CNTNAP5_uc010flu.2_Missense_Mutation_p.R687H NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 686 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGGAGGTCCCGCCTGCTCAAC 0.587000 GYPC 2995 broad.mit.edu 37 2 127451461 127451461 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:127451461G>T uc002tnq.2 + 3 284 c.128G>T c.(127-129)GGA>GTA p.G43V GYPC_uc002tnr.2_Missense_Mutation_p.G24V|GYPC_uc010flv.2_RNA NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 43 Extracellular. cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) GGGATGTCTGGATGGCCGGAT 0.552000 NCKAP5 344148 broad.mit.edu 37 2 133539527 133539527 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:133539527C>T uc002ttp.2 - 14 5231 c.4857G>A c.(4855-4857)ACG>ACA p.T1619T NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1619 protein binding 0 TCAAGAGTTCCGTCATGAAGG 0.443000 NCKAP5 344148 broad.mit.edu 37 2 133541938 133541938 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:133541938G>A uc002ttp.2 - 14 2820 c.2446C>T c.(2446-2448)CTA>TTA p.L816L NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 816 protein binding 0 GGCTCCATTAGTTTTGATTTC 0.478000 ZRANB3 84083 broad.mit.edu 37 2 136261984 136261984 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:136261984G>A uc002tum.2 - 2 193 c.76C>T c.(76-78)CTG>TTG p.L26L ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.L26L|ZRANB3_uc002tun.1_Intron NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 26 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) AAAAAATCCAGCAGATTATCA 0.363000 LRP1B 53353 broad.mit.edu 37 2 141214085 141214085 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:141214085G>T uc002tvj.1 - 62 10874 c.9902C>A c.(9901-9903)CCC>CAC p.P3301H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3301 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAAGTTAGTGGGACATGCACA 0.438000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141598520 141598520 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:141598520T>G uc002tvj.1 - 30 6053 c.5081A>C c.(5080-5082)AAG>ACG p.K1694T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1694 Extracellular (Potential).|LDL-receptor class B 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACTGTGGCTTATCGATTCC 0.353000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141806634 141806634 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:141806634G>A uc002tvj.1 - 11 2682 c.1710C>T c.(1708-1710)ATC>ATT p.I570I LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 570 Extracellular (Potential).|LDL-receptor class B 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGCAAAGTAGATGTAATTGG 0.423000 TSP Lung(27;0.18) MBD5 55777 broad.mit.edu 37 2 149267699 149267699 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:149267699G>T uc002twm.3 + 14 5396 c.4408G>T c.(4408-4410)GGG>TGG p.G1470W MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G1470W|MBD5_uc002two.2_Missense_Mutation_p.G728W|MBD5_uc002twp.2_Missense_Mutation_p.G520W NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1470 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAAAATGTCTGGGACTGTAAG 0.328000 FAP 2191 broad.mit.edu 37 2 163055300 163055300 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:163055300C>T uc002ucd.2 - 16 1577 c.1369G>A c.(1369-1371)GAC>AAC p.D457N FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.D432N|FAP_uc010fpd.2_5'UTR NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 457 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TTGGCGTAGTCGCTGAAACTT 0.468000 SCN2A 6326 broad.mit.edu 37 2 166179886 166179886 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:166179886C>T uc002udc.2 + 12 2182 c.1892C>T c.(1891-1893)GCC>GTC p.A631V SCN2A_uc002udd.2_Missense_Mutation_p.A631V|SCN2A_uc002ude.2_Missense_Mutation_p.A631V NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 631 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GCCAGCCGTGCCTCCAGGGTG 0.602000 TTN 7273 broad.mit.edu 37 2 179413258 179413258 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:179413258G>T uc010zfg.1 - 288 85615 c.85391C>A c.(85390-85392)TCT>TAT p.S28464Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22159Y|TTN_uc010zfi.1_Missense_Mutation_p.S22092Y|TTN_uc010zfj.1_Missense_Mutation_p.S21967Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29391 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) CAATGTAGCAGATCCCCGGGT 0.507000 TTN 7273 broad.mit.edu 37 2 179468710 179468710 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:179468710C>T uc010zfg.1 - 231 47224 c.47000G>A c.(46999-47001)CGT>CAT p.R15667H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9362H|TTN_uc010zfi.1_Missense_Mutation_p.R9295H|TTN_uc010zfj.1_Missense_Mutation_p.R9170H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16594 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) TTCAAGCAAACGAGGAACATT 0.468000 ZNF804A 91752 broad.mit.edu 37 2 185803671 185803671 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:185803671C>A uc002uph.2 + 4 4142 c.3548C>A c.(3547-3549)GCT>GAT p.A1183D NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1183 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AGCCATCTGGCTTTCCCATCT 0.502000 DNAH7 56171 broad.mit.edu 37 2 196699053 196699053 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:196699053G>T uc002utj.3 - 48 9078 c.8977C>A c.(8977-8979)CCT>ACT p.P2993T NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2993 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGACTTTGAGGATCTATCATC 0.393000 ZNF142 7701 broad.mit.edu 37 2 219509337 219509337 + Silent SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:219509337T>G uc002vin.2 - 8 2338 c.1902A>C c.(1900-1902)TCA>TCC p.S634S ZNF142_uc002vil.2_Silent_p.S595S|ZNF142_uc010fvt.2_Silent_p.S471S|ZNF142_uc002vim.2_Silent_p.S471S NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CAGGTCGGGCTGACAGCTGGT 0.637000 SPEG 10290 broad.mit.edu 37 2 220349010 220349010 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:220349010C>T uc010fwg.2 + 30 6825 c.6825C>T c.(6823-6825)CAC>CAT p.H2275H NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2275 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCAAGCCCCACGCTGCTGTCT 0.706000 FAM124B 79843 broad.mit.edu 37 2 225266120 225266120 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:225266120C>T uc002vnx.2 - 1 592 c.366G>A c.(364-366)CAG>CAA p.Q122Q FAM124B_uc002vnw.2_Silent_p.Q122Q NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 122 protein binding p.Q122*(1) ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) AGATGGGCAGCTGACTGTCCA 0.562000 CAPN10 11132 broad.mit.edu 37 2 241534098 241534098 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:241534098G>C uc002vzk.1 + 6 1153 c.969G>C c.(967-969)GAG>GAC p.E323D CAPN10_uc010zoh.1_Missense_Mutation_p.E323D|CAPN10_uc002vzl.1_Missense_Mutation_p.E323D|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.E195D|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 323 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CGGTCACGGAGGCCGGCCACC 0.662000 XKR7 343702 broad.mit.edu 37 20 30584798 30584798 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:30584798G>A uc002wxe.2 + 3 1452 c.1278G>A c.(1276-1278)GCG>GCA p.A426A NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 426 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAGCTTTGCGCTGGGCATAT 0.582000 MYH7B 57644 broad.mit.edu 37 20 33584184 33584184 + Missense_Mutation SNP C C A rs147249013 by1000genomes TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:33584184C>A uc002xbi.1 + 27 3197 c.3105C>A c.(3103-3105)GAC>GAA p.D1035E NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 993 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTGCGCTGGACGAGTCAGTGG 0.672000 SAMHD1 25939 broad.mit.edu 37 20 35521394 35521394 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:35521394T>C uc002xgh.1 - 16 1952 c.1822A>G c.(1822-1824)ACT>GCT p.T608A C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 608 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) CGGAGGCGAGTTGGATTTTGG 0.433000 RBL1 5933 broad.mit.edu 37 20 35663900 35663900 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:35663900A>G uc002xgi.2 - 15 1994 c.1915T>C c.(1915-1917)TTG>CTG p.L639L RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.L639L NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 639 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) ATTGGAGACAATGGTTGCATA 0.303000 AURKA 6790 broad.mit.edu 37 20 54948571 54948571 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:54948571C>T uc002xxd.1 - 9 1313 c.747G>A c.(745-747)TCG>TCA p.S249S AURKA_uc002xxe.1_Silent_p.S249S|AURKA_uc002xxf.1_Silent_p.S249S|AURKA_uc002xxg.1_Silent_p.S249S|AURKA_uc002xxh.1_Silent_p.S249S|AURKA_uc002xxi.1_Silent_p.S249S|AURKA_uc002xxj.1_Silent_p.S249S|AURKA_uc002xxk.1_Silent_p.S249S|AURKA_uc010zzd.1_RNA NM_198433 NP_940835 O14965 AURKA_HUMAN serine/threonine protein kinase 6 249 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1) 8 Colorectal(105;0.202) TAACTCTCTTCGAATGACAGT 0.338000 TFAP2C 7022 broad.mit.edu 37 20 55212788 55212788 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr20:55212788C>A uc002xya.2 + 7 1315 c.1072C>A c.(1072-1074)CTG>ATG p.L358M TFAP2C_uc010zzi.1_Missense_Mutation_p.L189M NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 358 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) TCACAGGCAACTGTGTAAAGA 0.537000 SEPT3 55964 broad.mit.edu 37 22 42390313 42390313 + Nonsense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr22:42390313T>A uc003bbr.3 + 9 1023 c.885T>A c.(883-885)TGT>TGA p.C295* WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Nonsense_Mutation_p.C295*|SEPT3_uc010gyr.2_Nonsense_Mutation_p.C231*|SEPT3_uc011apj.1_Nonsense_Mutation_p.C231*|SEPT3_uc010gys.2_Nonsense_Mutation_p.C75* NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 295 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 TCAACCACTGTGAGTTTGCCC 0.428000 FGD5 152273 broad.mit.edu 37 3 14964574 14964574 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:14964574C>T uc003bzc.2 + 16 3939 c.3829C>T c.(3829-3831)CGG>TGG p.R1277W FGD5_uc011avk.1_Missense_Mutation_p.R1277W|FGD5_uc003bzd.2_Missense_Mutation_p.R355W NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1277 FYVE-type. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GAACTGTTCGCGGAACAAGTA 0.632000 KAT2B 8850 broad.mit.edu 37 3 20141402 20141402 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:20141402T>A uc003cbq.2 + 4 1071 c.625T>A c.(625-627)TCT>ACT p.S209T NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 209 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGTTGAAGGCTCTTTGGAAAA 0.229000 ZNF385D 79750 broad.mit.edu 37 3 21462840 21462840 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:21462840T>A uc003cce.2 - 8 1462 c.1054A>T c.(1054-1056)AGT>TGT p.S352C NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 352 nucleus nucleic acid binding|zinc ion binding p.S352I(1) large_intestine(2)|skin(2)|ovary(1) 5 AAGGGGGAACTCActgccact 0.433000 ZCWPW2 152098 broad.mit.edu 37 3 28566142 28566142 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:28566142A>C uc003ceh.2 + 10 1202 c.1034A>C c.(1033-1035)AAA>ACA p.K345T ZCWPW2_uc003cei.2_Missense_Mutation_p.K345T|ZCWPW2_uc010hfo.2_Missense_Mutation_p.K150T NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 345 zinc ion binding ovary(2) 2 ATAACTAATAAATTTAAAGAA 0.274000 ARPP21 10777 broad.mit.edu 37 3 35763106 35763106 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:35763106A>T uc003cgb.2 + 14 1269 c.1005A>T c.(1003-1005)AGA>AGT p.R335S ARPP21_uc003cga.2_Missense_Mutation_p.R281S|ARPP21_uc011axy.1_Missense_Mutation_p.R301S|ARPP21_uc003cgf.2_Missense_Mutation_p.R136S|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 335 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GGGGCAACAGAGATGGCTCAG 0.532000 TRAK1 22906 broad.mit.edu 37 3 42265201 42265201 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:42265201A>C uc003cky.2 + 16 3050 c.2834A>C c.(2833-2835)AAG>ACG p.K945T TRAK1_uc011azi.1_Missense_Mutation_p.K924T NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 945 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 ATGGGTGCTAAGCTCTCCAAA 0.582000 DNAH1 25981 broad.mit.edu 37 3 52412796 52412796 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:52412796G>A uc011bef.1 + 47 7638 c.7377G>A c.(7375-7377)GAG>GAA p.E2459E NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2459 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCAAGGTCGAGGTGAGGACCA 0.627000 DNASE1L3 1776 broad.mit.edu 37 3 58183574 58183574 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:58183574C>T uc003djo.1 - 6 775 c.678G>A c.(676-678)AAG>AAA p.K226K DNASE1L3_uc011bfd.1_Silent_p.K196K|DNASE1L3_uc003djp.1_Silent_p.K226K|DNASE1L3_uc003djq.1_Silent_p.K226K NM_004944 NP_004935 Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 precursor 226 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TGGTGCTCTTCTTCACCGTGG 0.557000 EPHA3 2042 broad.mit.edu 37 3 89259476 89259476 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:89259476A>T uc003dqy.2 + 3 845 c.620A>T c.(619-621)AAG>ATG p.K207M EPHA3_uc003dqx.1_Missense_Mutation_p.K207M|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 207 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTTACAGTGAAGAATCTGGCT 0.453000 TSP Lung(6;0.00050) EPHA6 285220 broad.mit.edu 37 3 96962916 96962916 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:96962916A>G uc010how.1 + 5 1434 c.1391A>G c.(1390-1392)AAG>AGG p.K464R EPHA6_uc003drp.1_Missense_Mutation_p.K464R NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 369 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GTAATCTGTAAGAAATGTGGC 0.448000 IMPG2 50939 broad.mit.edu 37 3 100963573 100963573 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:100963573A>C uc003duq.1 - 13 1805 c.1602T>G c.(1600-1602)AGT>AGG p.S534R IMPG2_uc011bhe.1_Missense_Mutation_p.S397R NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 534 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAGTGAATGAACTTGAAGGCA 0.353000 EPHB1 2047 broad.mit.edu 37 3 134967238 134967238 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:134967238C>A uc003eqt.2 + 14 2797 c.2577C>A c.(2575-2577)GAC>GAA p.D859E EPHB1_uc003equ.2_Missense_Mutation_p.D420E NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 859 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TCATGCTGGACTGTTGGCAGA 0.572000 TRPC1 7220 broad.mit.edu 37 3 142524916 142524916 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:142524916C>T uc003evc.2 + 13 2357 c.2221C>T c.(2221-2223)CGT>TGT p.R741C TRPC1_uc003evb.2_Missense_Mutation_p.R707C NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 741 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CCTAGTGCATCGTTACTTGAC 0.383000 SR140 23350 broad.mit.edu 37 3 142769862 142769862 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:142769862G>C uc003evh.1 + 25 2725 c.2626G>C c.(2626-2628)GAA>CAA p.E876Q SR140_uc003evi.1_Missense_Mutation_p.E467Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E875Q|SR140_uc003evl.1_Missense_Mutation_p.E443Q NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 876 Potential.|Glu-rich. RNA processing nucleus nucleotide binding|RNA binding 0 GGAGCAAGTAGAACACTACAG 0.323000 P2RY13 53829 broad.mit.edu 37 3 151046713 151046713 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:151046713T>C uc003eyv.2 - 2 152 c.131A>G c.(130-132)CAG>CGG p.Q44R MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 44 Extracellular (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) GAATACCAGCTGTACTATCCG 0.507000 MBNL1 4154 broad.mit.edu 37 3 152018069 152018069 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:152018069G>A uc003ezm.2 + 1 876 c.87G>A c.(85-87)CGG>CGA p.R29R MBNL1_uc003ezh.2_Silent_p.R29R|MBNL1_uc003ezi.2_Silent_p.R29R|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Silent_p.R29R|MBNL1_uc003ezp.2_Silent_p.R29R|MBNL1_uc003ezn.2_Silent_p.R29R|MBNL1_uc003ezo.2_Silent_p.R29R|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 29 C3H1-type 1. embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTGCTCACGGCCAGACACGG 0.428000 BCHE 590 broad.mit.edu 37 3 165504095 165504095 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:165504095G>T uc003fem.3 - 3 1682 c.1522C>A c.(1522-1524)CCA>ACA p.P508T BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 508 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GTCTCATTTGGATTCCTAAAT 0.299000 MECOM 2122 broad.mit.edu 37 3 168807857 168807858 + Missense_Mutation DNP TC TC AA TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:168807857_168807858TC>AA uc003ffi.3 - 14 3036_3037 c.2767_2768GA>TT c.(2767-2769)GAA>TTA p.E923L MECOM_uc010hwk.1_Missense_Mutation_p.E937L|MECOM_uc003ffj.3_Missense_Mutation_p.E988L|MECOM_uc011bpi.1_Missense_Mutation_p.E915L|MECOM_uc003ffn.3_Missense_Mutation_p.E923L|MECOM_uc003ffk.2_Missense_Mutation_p.E914L|MECOM_uc003ffl.2_Missense_Mutation_p.E1074L|MECOM_uc011bpj.1_Missense_Mutation_p.E1111L|MECOM_uc011bpk.1_Missense_Mutation_p.E913L NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 923 Asp/Glu-rich (acidic). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AGGGTTTCCTTCATGTAAATTA 0.421000 IGF2BP2 10644 broad.mit.edu 37 3 185393611 185393611 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr3:185393611T>C uc003fpo.2 - 8 982 c.903A>G c.(901-903)GAA>GAG p.E301E IGF2BP2_uc010hyi.2_Silent_p.E244E|IGF2BP2_uc010hyj.2_Silent_p.E238E|IGF2BP2_uc010hyk.2_Silent_p.E165E|IGF2BP2_uc010hyl.2_Silent_p.E238E|IGF2BP2_uc003fpp.2_Silent_p.E301E|IGF2BP2_uc003fpq.2_Silent_p.E306E NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 301 KH 2. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTGTTTCATGTTCAATTTTCT 0.403000 STK32B 55351 broad.mit.edu 37 4 5469777 5469777 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:5469777C>A uc003gih.1 + 11 1150 c.1086C>A c.(1084-1086)TTC>TTA p.F362L STK32B_uc010ida.1_Missense_Mutation_p.F315L NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 362 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GGGAGGAATTCATCATATTCA 0.532000 EVC2 132884 broad.mit.edu 37 4 5617239 5617239 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:5617239C>T uc003gij.2 - 16 2793 c.2739G>A c.(2737-2739)AAG>AAA p.K913K EVC2_uc011bwb.1_Silent_p.K353K|EVC2_uc003gik.2_Silent_p.K833K NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 913 integral to membrane large_intestine(3)|ovary(2) 5 TGCTTTTACTCTTGGACCGTG 0.517000 SLIT2 9353 broad.mit.edu 37 4 20493511 20493511 + Silent SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:20493511C>A uc003gpr.1 + 9 1107 c.903C>A c.(901-903)ACC>ACA p.T301T SLIT2_uc003gps.1_Silent_p.T301T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 301 LRR 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTCCAGAGACCATCACAGAAA 0.458000 GPR125 166647 broad.mit.edu 37 4 22425827 22425827 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:22425827T>G uc003gqm.1 - 11 1857 c.1592A>C c.(1591-1593)CAC>CCC p.H531P GPR125_uc010ieo.1_Missense_Mutation_p.H405P|GPR125_uc003gqn.1_Missense_Mutation_p.H305P|GPR125_uc003gqo.2_Missense_Mutation_p.H531P NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 531 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TGAATAAACGTGAGCTCCACC 0.483000 SEL1L3 23231 broad.mit.edu 37 4 25823632 25823632 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:25823632G>T uc003gru.3 - 7 1428 c.1276C>A c.(1276-1278)CTG>ATG p.L426M NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 426 integral to membrane binding 0 GCGGGGTGCAGACTGCGAAGG 0.532000 LIMCH1 22998 broad.mit.edu 37 4 41691639 41691639 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:41691639T>A uc003gvu.3 + 25 3164 c.3110T>A c.(3109-3111)ATC>AAC p.I1037N LIMCH1_uc003gvv.3_Missense_Mutation_p.I1011N|LIMCH1_uc003gvw.3_Missense_Mutation_p.I1010N|LIMCH1_uc003gvx.3_Missense_Mutation_p.I1023N|LIMCH1_uc003gwe.3_Missense_Mutation_p.I934N|LIMCH1_uc003gvy.3_Missense_Mutation_p.I839N|LIMCH1_uc003gwa.3_Missense_Mutation_p.I851N|LIMCH1_uc003gvz.3_Missense_Mutation_p.I1421N|LIMCH1_uc011byu.1_Missense_Mutation_p.I870N|LIMCH1_uc003gwc.3_Missense_Mutation_p.I856N|LIMCH1_uc003gwd.3_Missense_Mutation_p.I844N|LIMCH1_uc011byv.1_Missense_Mutation_p.I787N|LIMCH1_uc011byw.1_Missense_Mutation_p.I310N NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 1037 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TATTTTCACATCCAGTGTTTC 0.453000 GABRG1 2565 broad.mit.edu 37 4 46053588 46053588 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:46053588A>C uc003gxb.2 - 8 1136 c.984T>G c.(982-984)TCT>TCG p.S328S NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 328 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CAGTCACATAAGAAACCTTAG 0.373000 TECRL 253017 broad.mit.edu 37 4 65275046 65275046 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:65275046G>A uc003hcv.2 - 1 133 c.24C>T c.(22-24)CTC>CTT p.L8L TECRL_uc003hcw.2_Silent_p.L8L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 8 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GTTCCGAAGCGAGGGACTTGT 0.393000 UGT2B10 7365 broad.mit.edu 37 4 69696547 69696547 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:69696547T>A uc003hee.2 + 6 1562 c.1537T>A c.(1537-1539)TTT>ATT p.F513I UGT2B10_uc011cam.1_Missense_Mutation_p.F429I NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 513 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GTGTTGTCTGTTTTGTTTCTG 0.418000 SHROOM3 57619 broad.mit.edu 37 4 77662015 77662015 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:77662015G>A uc011cbx.1 + 5 3642 c.2689G>A c.(2689-2691)GAG>AAG p.E897K SHROOM3_uc011cbz.1_Missense_Mutation_p.E721K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E772K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E675K NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 897 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) GCTCTCCAGCGAGCCAGAGAG 0.711000 PDHA2 5161 broad.mit.edu 37 4 96761768 96761768 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:96761768A>C uc003htr.3 + 1 530 c.467A>C c.(466-468)AAG>ACG p.K156T NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 156 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATGTATACCAAGAACTTCTAT 0.507000 ALPK1 80216 broad.mit.edu 37 4 113352097 113352097 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:113352097C>T uc003iap.3 + 11 1673 c.1394C>T c.(1393-1395)TCG>TTG p.S465L ALPK1_uc003ian.3_Missense_Mutation_p.S465L|ALPK1_uc011cfx.1_Missense_Mutation_p.S387L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S293L NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 465 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CACCATACTTCGGTGTGTGAA 0.388000 ANK2 287 broad.mit.edu 37 4 114277998 114277998 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:114277998C>T uc003ibe.3 + 38 8324 c.8224C>T c.(8224-8226)CAT>TAT p.H2742Y ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.H44Y|ANK2_uc011cgb.1_Missense_Mutation_p.H2757Y NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2709 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCTGAATCCCATTTAGCTGA 0.413000 PCDH18 54510 broad.mit.edu 37 4 138442387 138442387 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:138442387G>T uc003ihe.3 - 4 3591 c.3204C>A c.(3202-3204)AAC>AAA p.N1068K PCDH18_uc003ihf.3_Missense_Mutation_p.N1060K|PCDH18_uc011cgz.1_Missense_Mutation_p.N279K|PCDH18_uc003ihg.3_Missense_Mutation_p.N847K|PCDH18_uc011cha.1_Missense_Mutation_p.N248K NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 1068 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GCGGCCCACAGTTGGTGGTGG 0.542000 TRIML2 205860 broad.mit.edu 37 4 189026046 189026046 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr4:189026046A>C uc003izl.2 - 2 116 c.80T>G c.(79-81)CTT>CGT p.L27R TRIML2_uc011cle.1_Missense_Mutation_p.L77R|TRIML2_uc011clf.1_Missense_Mutation_p.L77R NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 27 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGCTGCTTCAAGTTTCTCCCT 0.393000 MARCH6 10299 broad.mit.edu 37 5 10377976 10377976 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:10377976C>T uc003jet.1 + 2 269 c.86C>T c.(85-87)ACT>ATT p.T29I MARCH6_uc011cmu.1_Missense_Mutation_p.T29I|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 29 Cytoplasmic (Potential).|RING-CH-type. protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TGTGTATGTACTGGCAGTATT 0.373000 DNAH5 1767 broad.mit.edu 37 5 13762852 13762852 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:13762852G>C uc003jfd.2 - 60 10302 c.10260C>G c.(10258-10260)AAC>AAG p.N3420K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3420 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTACTTCTTTGTTTATAGAAA 0.483000 Kartagener_syndrome CDH12 1010 broad.mit.edu 37 5 21842417 21842417 + Missense_Mutation SNP G G T rs115178807 byFrequency TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:21842417G>T uc010iuc.2 - 5 1125 c.667C>A c.(667-669)CCA>ACA p.P223T CDH12_uc011cno.1_Missense_Mutation_p.P183T|CDH12_uc003jgk.2_Missense_Mutation_p.P223T NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 223 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCCATGTTTGGCAAAGCTGTT 0.353000 HNSCC(59;0.17) CDH10 1008 broad.mit.edu 37 5 24498608 24498608 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:24498608G>A uc003jgr.1 - 9 1746 c.1414C>T c.(1414-1416)CGC>TGC p.R472C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 472 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACAGCCACGCGTGTTGTCTCT 0.383000 HNSCC(23;0.051) UGT3A1 133688 broad.mit.edu 37 5 35957518 35957518 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:35957518A>G uc003jjv.1 - 5 1004 c.847T>C c.(847-849)TTG>CTG p.L283L UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L283L|UGT3A1_uc011cor.1_Silent_p.L249L NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 283 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGTTGTCCAAGTCCTAGAGA 0.458000 PARP8 79668 broad.mit.edu 37 5 50120793 50120793 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:50120793C>T uc003jon.3 + 19 2094 c.1912C>T c.(1912-1914)CAT>TAT p.H638Y PARP8_uc011cpz.1_Missense_Mutation_p.H530Y|PARP8_uc003joo.2_Missense_Mutation_p.H638Y|PARP8_uc003jop.2_Missense_Mutation_p.H596Y NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 638 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CCCCCTTGCTCATCCCTTACT 0.318000 MAP1B 4131 broad.mit.edu 37 5 71492684 71492684 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:71492684T>A uc003kbw.3 + 5 3743 c.3502T>A c.(3502-3504)TCA>ACA p.S1168T MAP1B_uc010iyw.1_Missense_Mutation_p.S1185T|MAP1B_uc010iyx.1_Missense_Mutation_p.S1042T|MAP1B_uc010iyy.1_Missense_Mutation_p.S1042T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1168 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ATATGAATCTTCATTGTATTC 0.423000 ADAMTS19 171019 broad.mit.edu 37 5 128796134 128796134 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:128796134T>A uc003kvb.1 + 1 32 c.32T>A c.(31-33)CTC>CAC p.L11H ADAMTS19_uc003kvc.1_5'Flank NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 11 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGCTGCTGCCTCCTTTACCAG 0.627000 ADAMTS19 171019 broad.mit.edu 37 5 128984615 128984615 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:128984615A>C uc003kvb.1 + 13 2110 c.2110A>C c.(2110-2112)ACT>CCT p.T704P ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 704 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TAGTGTTAGAACTTCCTCCCC 0.438000 PCDHB4 56131 broad.mit.edu 37 5 140503131 140503131 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:140503131G>A uc003lip.1 + 1 1551 c.1551G>A c.(1549-1551)TCG>TCA p.S517S NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 517 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCAGGTCGCTGGACTACG 0.692000 PCDHB8 56128 broad.mit.edu 37 5 140559571 140559571 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:140559571G>A uc011dai.1 + 1 2142 c.1956G>A c.(1954-1956)CCG>CCA p.P652P PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 652 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGCCTCCGTGCTCGGCCA 0.711000 PCDHGA12 26025 broad.mit.edu 37 5 140812214 140812214 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr5:140812214C>T uc003lkt.1 + 1 2057 c.1888C>T c.(1888-1890)CGA>TGA p.R630* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Nonsense_Mutation_p.R630* NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 630 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCACGGCGCGAGCCCTGCT 0.692000 RREB1 6239 broad.mit.edu 37 6 7230602 7230602 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:7230602T>C uc003mxc.2 + 10 2660 c.2270T>C c.(2269-2271)CTG>CCG p.L757P RREB1_uc003mxb.2_Missense_Mutation_p.L757P|RREB1_uc010jnx.2_Missense_Mutation_p.L757P NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 757 C2H2-type 10. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GTGTGCCGGCTGTGCGGCGAG 0.677000 LRRC16A 55604 broad.mit.edu 37 6 25554282 25554282 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:25554282G>A uc011djw.1 + 28 2926 c.2550G>A c.(2548-2550)GTG>GTA p.V850V LRRC16A_uc010jpx.2_Silent_p.V850V|LRRC16A_uc010jpy.2_Silent_p.V850V|LRRC16A_uc003nfa.1_Silent_p.V204V NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 850 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 ATAGAATTGTGGATGAAATCC 0.443000 EHMT2 10919 broad.mit.edu 37 6 31855588 31855588 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:31855588C>T uc003nxz.1 - 14 1906 c.1896G>A c.(1894-1896)CTG>CTA p.L632L EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.L423L|EHMT2_uc011don.1_Silent_p.L655L|EHMT2_uc003nya.1_Silent_p.L598L NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 632 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 GGGCCTTTTCCAGGGCCTCCC 0.657000 COL11A2 1302 broad.mit.edu 37 6 33144777 33144777 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:33144777C>T uc003ocx.1 - 25 2290 c.2062G>A c.(2062-2064)GGA>AGA p.G688R COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G602R|COL11A2_uc003ocz.1_Missense_Mutation_p.G581R NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 688 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 ACCGGGGGTCCGTCTGAGCCA 0.602000 DAAM2 23500 broad.mit.edu 37 6 39869751 39869751 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:39869751C>T uc003oow.2 + 25 3301 c.3145C>T c.(3145-3147)CGA>TGA p.R1049* DAAM2_uc003oox.2_Nonsense_Mutation_p.R1048* NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 1049 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CAGCCGCAAGCGATCAGGGAG 0.612000 RCAN2 10231 broad.mit.edu 37 6 46293235 46293235 + Translation_Start_Site SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:46293235A>C uc003oyb.1 - 1 297 c.-18T>G c.(-20--16)ATTAA>ATGAA RCAN2_uc003oyc.1_Intron|RCAN2_uc003oyd.1_Intron NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 CTGAATTTTTAATAAAGAGTT 0.532000 KHDRBS2 202559 broad.mit.edu 37 6 62611269 62611269 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:62611269T>C uc003peg.2 - 5 738 c.491A>G c.(490-492)AAT>AGT p.N164S NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) AATTTCATCATTGTAGTCCTG 0.383000 COL12A1 1303 broad.mit.edu 37 6 75804892 75804892 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:75804892T>C uc003phs.2 - 60 8747 c.8581A>G c.(8581-8583)AGC>GGC p.S2861G COL12A1_uc003pht.2_Missense_Mutation_p.S1697G NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2861 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GAGCCTGGGCTTCCCTACAAC 0.473000 ARHGAP18 93663 broad.mit.edu 37 6 129963162 129963162 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:129963162G>A uc003qbr.2 - 2 204 c.115C>T c.(115-117)CGC>TGC p.R39C ARHGAP18_uc011ebw.1_Missense_Mutation_p.R39C NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 39 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CCATATCTGCGACTGTAAATT 0.383000 CTGF 1490 broad.mit.edu 37 6 132271583 132271583 + Silent SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:132271583C>A uc003qcz.2 - 3 596 c.390G>T c.(388-390)GCG>GCT p.A130A NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 130 VWFC. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) TGCAGCCCACCGCCCCGTCCA 0.642000 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AKAP12 9590 broad.mit.edu 37 6 151671390 151671390 + Missense_Mutation SNP C C T rs143476871 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr6:151671390C>T uc011eep.1 + 4 2104 c.1864C>T c.(1864-1866)CGT>TGT p.R622C AKAP12_uc003qoe.2_Missense_Mutation_p.R622C|AKAP12_uc003qof.2_Missense_Mutation_p.R524C|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R517C NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 622 AKAP 1. G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GCCCAAGAAGCGTGTTAGACG 0.498000 C7orf27 221927 broad.mit.edu 37 7 2577735 2577735 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:2577735A>T uc003smi.2 - 14 2476 c.2434T>A c.(2434-2436)TTC>ATC p.F812I C7orf27_uc003smh.3_Missense_Mutation_p.F244I NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 812 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) CCCTGCAGGAAGCCTCCCGTG 0.652000 DNAH11 8701 broad.mit.edu 37 7 21654730 21654730 + Splice_Site SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:21654730A>T uc003svc.2 + 21 3884 c.3853_splice c.e21-2 p.A1285_splice NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 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 TTCTCTCCTTAGGCAAATGAA 0.388000 Kartagener_syndrome HECW1 23072 broad.mit.edu 37 7 43483913 43483913 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:43483913G>A uc003tid.1 + 11 1747 c.1142G>A c.(1141-1143)CGG>CAG p.R381Q HECW1_uc011kbi.1_Missense_Mutation_p.R381Q NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 381 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGGGAACCTCGGTCTGAGGCA 0.572000 PCLO 27445 broad.mit.edu 37 7 82764559 82764559 + Silent SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:82764559T>A uc003uhx.2 - 3 2596 c.2307A>T c.(2305-2307)TCA>TCT p.S769S PCLO_uc003uhv.2_Silent_p.S769S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 715 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGCTGATGATGAAGATACAA 0.458000 ABCB4 5244 broad.mit.edu 37 7 87056199 87056199 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:87056199A>T uc003uiv.1 - 16 2007 c.1931T>A c.(1930-1932)CTA>CAA p.L644Q ABCB4_uc003uiw.1_Missense_Mutation_p.L644Q|ABCB4_uc003uix.1_Missense_Mutation_p.L644Q NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 644 Cytoplasmic (By similarity).|Interaction with HAX1 (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCATCATTTAGTTCAAATTC 0.313000 TRRAP 8295 broad.mit.edu 37 7 98569468 98569468 + Missense_Mutation SNP C C T rs76587346 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:98569468C>T uc003upp.2 + 52 7927 c.7718C>T c.(7717-7719)ACG>ATG p.T2573M TRRAP_uc011kis.1_Missense_Mutation_p.T2555M|TRRAP_uc003upr.2_Missense_Mutation_p.T2272M NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2573 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAGACCAGCACGCCCAAAACC 0.468000 CUX1 1523 broad.mit.edu 37 7 101839972 101839972 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:101839972G>A uc003uyx.3 + 15 1319 c.1281G>A c.(1279-1281)CCG>CCA p.P427P CUX1_uc003uys.3_Silent_p.P438P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 427 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GATCTTTGCCGGCCCCCCCTC 0.562000 SLC35B4 84912 broad.mit.edu 37 7 133984324 133984324 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:133984324G>A uc003vrn.2 - 8 948 c.624C>T c.(622-624)GTC>GTT p.V208V SLC35B4_uc010lmk.2_Silent_p.V72V|SLC35B4_uc010lml.1_Silent_p.V140V|SLC35B4_uc003vro.3_Silent_p.V208V NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 208 Helical; (Potential). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 AAGCCAAGAAGACGAAACCCG 0.388000 NUP205 23165 broad.mit.edu 37 7 135307657 135307657 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr7:135307657G>A uc003vsw.2 + 31 4494 c.4463G>A c.(4462-4464)GGT>GAT p.G1488D NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1488 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GCTTGTGATGGTCATGAGATT 0.338000 CSMD1 64478 broad.mit.edu 37 8 3565996 3565996 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:3565996A>C uc011kwk.1 - 7 1339 c.949T>G c.(949-951)TTG>GTG p.L317V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 317 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTGACTTCAACTCAATCGCC 0.443000 DLC1 10395 broad.mit.edu 37 8 12958130 12958130 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:12958130C>T uc003wwm.2 - 9 2160 c.1716G>A c.(1714-1716)CCG>CCA p.P572P DLC1_uc003wwk.1_Silent_p.P135P|DLC1_uc003wwl.1_Silent_p.P169P|DLC1_uc011kxx.1_Silent_p.P61P NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 572 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GGCCGTCCTTCGGGTGGGAGT 0.632000 PENK 5179 broad.mit.edu 37 8 57354352 57354352 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:57354352A>T uc003xsz.2 - 2 364 c.283T>A c.(283-285)TTG>ATG p.L95M PENK_uc003xta.3_Missense_Mutation_p.L95M NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 95 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTGGCTAGCAAATGGCTTTCT 0.493000 ZFHX4 79776 broad.mit.edu 37 8 77767850 77767850 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:77767850G>A uc003yav.2 + 10 8945 c.8558G>A c.(8557-8559)CGC>CAC p.R2853H ZFHX4_uc003yau.1_Missense_Mutation_p.R2898H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2853H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2853 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACGCCGACCGCAGCGAAACG 0.512000 HNSCC(33;0.089) CNBD1 168975 broad.mit.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:88365898T>G uc003ydy.2 + 10 1235 c.1187T>G c.(1186-1188)CTT>CGT p.L396R NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 396 cNMP. ovary(3) 3 ATGGGGAAACTTAAGGAGAAG 0.323000 NBN 4683 broad.mit.edu 37 8 90993671 90993671 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:90993671C>A uc003yej.1 - 3 362 c.252G>T c.(250-252)CAG>CAT p.Q84H NBN_uc003yei.1_Missense_Mutation_p.Q2H|NBN_uc011lgb.1_Missense_Mutation_p.Q84H NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 84 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) AAAAGCCATTCTGCATTTTTT 0.318000 Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome RIMS2 9699 broad.mit.edu 37 8 104898096 104898096 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:104898096T>C uc003yls.2 + 2 844 c.603T>C c.(601-603)TCT>TCC p.S201S RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 454 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S231S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACCAAGTTCTTATGCACAAA 0.478000 HNSCC(12;0.0054) CSMD3 114788 broad.mit.edu 37 8 113275955 113275955 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:113275955A>T uc003ynu.2 - 61 9934 c.9775T>A c.(9775-9777)TGT>AGT p.C3259S CSMD3_uc003yns.2_Missense_Mutation_p.C2461S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3219S|CSMD3_uc011lhx.1_Missense_Mutation_p.C3090S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3259 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCTGGAGAACAGATGTAGCTA 0.463000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) MED30 90390 broad.mit.edu 37 8 118543004 118543004 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:118543004G>A uc003yoj.2 + 3 530 c.379G>A c.(379-381)GAT>AAT p.D127N MED30_uc011lib.1_Intron NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 127 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) AAAGAATGATGATCGGGCTGG 0.338000 MYC 4609 broad.mit.edu 37 8 128751076 128751076 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr8:128751076G>C uc003ysi.2 + 2 1138 c.613G>C c.(613-615)GAC>CAC p.D205H NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 190 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AGAGTGCATCGACCCCTCGGT 0.657000 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BNC2 54796 broad.mit.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr9:16436469T>G uc003zml.2 - 6 1863 c.1723A>C c.(1723-1725)AGT>CGT p.S575R BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 575 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTGAGTAAACTTCTATAAAAT 0.517000 ASTN2 23245 broad.mit.edu 37 9 119903650 119903650 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr9:119903650G>A uc004bjs.1 - 4 1224 c.1123C>T c.(1123-1125)CGC>TGC p.R375C ASTN2_uc004bjr.1_Missense_Mutation_p.R375C|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 375 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GATGTGCTGCGCAGGGGTGGT 0.587000 SETX 23064 broad.mit.edu 37 9 135201772 135201772 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr9:135201772T>G uc004cbk.2 - 10 5396 c.5213A>C c.(5212-5214)CAC>CCC p.H1738P SETX_uc004cbj.2_Missense_Mutation_p.H1357P|SETX_uc010mzt.2_Missense_Mutation_p.H1357P NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1738 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCCATAATTGTGAAATCTGAC 0.353000 SHROOM2 357 broad.mit.edu 37 X 9863306 9863306 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:9863306A>G uc004csu.1 + 4 1448 c.1358A>G c.(1357-1359)CAG>CGG p.Q453R NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 453 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GCCAGCTTCCAGAACGACAGC 0.667000 TLR8 51311 broad.mit.edu 37 X 12937481 12937481 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:12937481G>A uc004cve.2 + 2 390 c.322G>A c.(322-324)GGT>AGT p.G108S TLR8_uc004cvd.2_Missense_Mutation_p.G126S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 108 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CGGAAATCCCGGTATACAATC 0.413000 XK 7504 broad.mit.edu 37 X 37587421 37587421 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:37587421C>T uc004ddq.2 + 3 1123 c.1041C>T c.(1039-1041)TGC>TGT p.C347C NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 347 Extracellular (Potential). C->S: Loss of Kell-XK complex. amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) TGTATGTGTGCGCACCTCTGT 0.448000 TRO 7216 broad.mit.edu 37 X 54949399 54949399 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:54949399T>C uc004dtq.2 + 3 541 c.434T>C c.(433-435)GTT>GCT p.V145A TRO_uc011moj.1_Missense_Mutation_p.V88A|TRO_uc004dts.2_Missense_Mutation_p.V145A|TRO_uc004dtr.2_Missense_Mutation_p.V145A|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 145 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ATGAAGAGAGTTACTGCCAAG 0.512000 FAAH2 158584 broad.mit.edu 37 X 57473429 57473429 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:57473429C>G uc004dvc.2 + 9 1334 c.1185C>G c.(1183-1185)ATC>ATG p.I395M NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 395 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 GGGAGTTGATCAAATGGTGCC 0.388000 HNSCC(52;0.14) ZXDA 7789 broad.mit.edu 37 X 57936570 57936570 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:57936570C>T uc004dve.2 - 1 498 c.285G>A c.(283-285)CCG>CCA p.P95P NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 95 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGCCACCCACCGGGTCAAGCA 0.731000 VSIG4 11326 broad.mit.edu 37 X 65252408 65252408 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:65252408T>G uc004dwh.2 - 3 723 c.596A>C c.(595-597)AAG>ACG p.K199T VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.K199T|VSIG4_uc004dwj.2_Missense_Mutation_p.K199T|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.K199T|VSIG4_uc004dwl.2_Missense_Mutation_p.K95T NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 199 Ig-like 2.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 CACCGCAGGCTTGAAGAGTAA 0.498000 KIAA2022 340533 broad.mit.edu 37 X 73960013 73960013 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:73960013T>C uc004eby.2 - 3 4996 c.4379A>G c.(4378-4380)GAG>GGG p.E1460G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1460 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTTACATTTCTCATCTCTCAG 0.433000 BHLHB9 80823 broad.mit.edu 37 X 102004035 102004035 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:102004035G>C uc010nog.2 + 4 683 c.112G>C c.(112-114)GCC>CCC p.A38P BHLHB9_uc011mrq.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrr.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrs.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrt.1_Missense_Mutation_p.A38P|BHLHB9_uc004ejo.2_Missense_Mutation_p.A38P|BHLHB9_uc011mru.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrv.1_Missense_Mutation_p.A38P NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 38 cytoplasm|nucleus binding ovary(2) 2 TAGGCCTGTAGCCAAGACCAG 0.478000 RIPPLY1 92129 broad.mit.edu 37 X 106146380 106146380 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:106146380T>G uc004emr.1 - 1 182 c.138A>C c.(136-138)GAA>GAC p.E46D MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.E46D NM_138382 NP_612391 Q0D2K3 RIPP1_HUMAN ripply1 homolog 46 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus 0 TCCCATTTACTTCTTGTCCAG 0.383000 KLHL13 90293 broad.mit.edu 37 X 117079445 117079445 + Silent SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:117079445T>G uc004eql.2 - 2 254 c.192A>C c.(190-192)GGA>GGC p.G64G KLHL13_uc004eqk.2_Silent_p.G13G|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Silent_p.G58G|KLHL13_uc011mtp.1_Silent_p.G66G|KLHL13_uc004eqm.2_Silent_p.G13G|KLHL13_uc011mtq.1_Silent_p.G48G NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 64 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 TGCGTGTAGGTCCTGCCTTGG 0.463000 WDR44 54521 broad.mit.edu 37 X 117577561 117577561 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:117577561A>C uc004eqn.2 + 18 2848 c.2423A>C c.(2422-2424)AAG>ACG p.K808T WDR44_uc004eqo.2_Missense_Mutation_p.K800T|WDR44_uc011mtr.1_Missense_Mutation_p.K719T|WDR44_uc010nqi.2_Missense_Mutation_p.K518T NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 808 WD 6. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 TCAGAAGATAAGTATGTTTAT 0.358000 GLUD2 2747 broad.mit.edu 37 X 120183118 120183118 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:120183118A>C uc004eto.2 + 1 1657 c.1580A>C c.(1579-1581)AAG>ACG p.K527T NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 527 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ACAGCCATGAAGTATAACCTG 0.458000 ODZ1 10178 broad.mit.edu 37 X 123554379 123554379 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:123554379G>T uc004euj.2 - 24 4807 c.4743C>A c.(4741-4743)AGC>AGA p.S1581R ODZ1_uc011muj.1_Missense_Mutation_p.S1587R|ODZ1_uc010nqy.2_Missense_Mutation_p.S1588R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1581 YD 2.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGCCATTGCTGCTGGTAATCG 0.493000 SOX3 6658 broad.mit.edu 37 X 139586729 139586729 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:139586729T>G uc004fbd.1 - 1 497 c.497A>C c.(496-498)AAT>ACT p.N166T NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 166 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GATCTCAGAATTGTGCATCTT 0.612000 AFF2 2334 broad.mit.edu 37 X 148044287 148044287 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chrX:148044287A>C uc004fcp.2 + 13 3212 c.2733A>C c.(2731-2733)AAA>AAC p.K911N AFF2_uc004fcq.2_Missense_Mutation_p.K901N|AFF2_uc004fcr.2_Missense_Mutation_p.K872N|AFF2_uc011mxb.1_Missense_Mutation_p.K876N|AFF2_uc004fcs.2_Missense_Mutation_p.K878N|AFF2_uc011mxc.1_Missense_Mutation_p.K552N NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 911 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGGAAGAAAAACTATTTCCTC 0.423000 CCL20 6364 broad.mit.edu 37 2 228681080 228681081 + Frame_Shift_Del DEL AT AT - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr2:228681080_228681081delAT uc002vpl.2 + 3 319_320 c.249_250delAT c.(247-252)AAATATfs p.K83fs CCL20_uc002vpm.2_Frame_Shift_Del_p.K82fs NM_004591 NP_004582 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 isoform 1 83_84 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity 0 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) CTTGGGTGAAATATATTGTGCG 0.401 C1orf86 199990 broad.mit.edu 37 1 2125333 2125333 + Frame_Shift_Del DEL G G - rs138779739 TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr1:2125332_2125332CG>C uc001aix.2 - 6 976 c.203_203CG>G c.(202-204)cggfs p.R68fs C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Frame_Shift_Del_p.P72fs NM_001146310 NP_001139782 Q6NZ36 CA086_HUMAN Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA. 112 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CAGTGGGCTCCGGGCCGCACC 0.652 CNTROB 116840 broad.mit.edu 37 17 7851480 7851483 + Frame_Shift_Del DEL CTGA CTGA - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 g.chr17:7851479_7851482TCTGA>T uc002gjp.3 + 16 3164_3167 c.2214_2217TCTGA>T c.(2212-2217)cctctgfs p.P738fs CNTROB_uc002gjq.3_Frame_Shift_Del_p.P738fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.P640fs NM_001037144 NP_001032221 Q8N137 CNTRB_HUMAN Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA. 738 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TGCTAGGTCCTCTGACTGTCCCAT 0.495