Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample NADK 65220 broad.mit.edu 37 1 1685647 1685647 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:1685647C>T uc009vkw.2 - 10 1065 c.944G>A c.(943-945)GGA>GAA p.G315E NADK_uc001aic.2_Missense_Mutation_p.G315E|NADK_uc001aid.3_Missense_Mutation_p.G315E|NADK_uc001aie.2_Missense_Mutation_p.G460E|NADK_uc010nyv.1_Missense_Mutation_p.G283E|NADK_uc009vkx.1_3'UTR NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 315 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CACGATCACTCCTGACAGGGA 0.701 NaN 0 0 0 0.027356 0 25 37 NPHP4 261734 broad.mit.edu 37 1 5926434 5926434 + Missense_Mutation SNP A A G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:5926434A>G uc001alq.1 - 26 3909 c.3643T>C c.(3643-3645)TCG>CCG p.S1215P NPHP4_uc001alr.1_Missense_Mutation_p.S157P NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 1215 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TGCACTTACGAGTAAATGATG 0.597 NaN 0 0 0 0.014758 0 4 21 USP48 84196 broad.mit.edu 37 1 22033020 22033020 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:22033020C>G uc001bfb.2 - 17 2389 c.2151G>C c.(2149-2151)AAG>AAC p.K717N USP48_uc001bfa.2_Missense_Mutation_p.K255N|USP48_uc010odq.1_Missense_Mutation_p.K729N|USP48_uc009vqc.2_Missense_Mutation_p.K651N|USP48_uc001bfc.2_Missense_Mutation_p.K717N|USP48_uc001bfd.1_5'Flank NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 717 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GGAGAGAAGTCTTTTGCTCGT 0.388 NaN 0 0 0 0.01441 0 71 143 HSPG2 3339 broad.mit.edu 37 1 22191497 22191497 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:22191497C>G uc001bfj.2 - 36 4505 c.4465G>C c.(4465-4467)GAT>CAT p.D1489H HSPG2_uc009vqd.2_Missense_Mutation_p.D1490H NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1489 Laminin IV type A 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGGAGCTCATCCAGGTCGGCC 0.711 NaN 0 0 0 0.014758 0 4 4 EPHB2 2048 broad.mit.edu 37 1 23111208 23111208 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:23111208G>A uc009vqj.1 + 3 595 c.450G>A c.(448-450)GTG>GTA p.V150V EPHB2_uc001bge.2_Silent_p.V150V|EPHB2_uc001bgf.2_Silent_p.V150V|EPHB2_uc010odu.1_Silent_p.V150V NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 150 Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TCTCCCAGGTGGACCTGGGTG 0.597 NaN Hereditary_Prostate_Cancer 0 0 0 0.001984 0 6 47 KDM1A 23028 broad.mit.edu 37 1 23380296 23380296 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:23380296G>A uc001bgi.2 + 4 843 c.694G>A c.(694-696)GAG>AAG p.E232K KDM1A_uc001bgj.2_Missense_Mutation_p.E252K NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 232 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 GCTGACATTTGAGGCTACTCT 0.333 NaN 0 0 0 0.024245 0 13 62 RCAN3 11123 broad.mit.edu 37 1 24857725 24857725 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:24857725C>G uc001bjj.2 + 3 526 c.213C>G c.(211-213)CTC>CTG p.L71L RCAN3_uc009vrd.2_Silent_p.L71L|RCAN3_uc009vre.2_Intron|RCAN3_uc009vrf.2_Silent_p.L71L|RCAN3_uc009vrg.2_Intron NM_013441 NP_038469 Q9UKA8 RCAN3_HUMAN Down syndrome critical region gene 1-like 2 71 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) TTGAAGCACTCTTCACCATCT 0.388 NaN 0 0 0 0.024245 0 14 171 RHCE 6006 broad.mit.edu 37 1 25729100 25729100 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:25729100C>T uc001bkf.2 - 3 559 c.473G>A c.(472-474)AGT>AAT p.S158N RHCE_uc001bkg.2_Missense_Mutation_p.S158N|RHCE_uc001bkh.2_Missense_Mutation_p.S158N|RHCE_uc001bki.2_Missense_Mutation_p.S158N|RHCE_uc001bkj.2_Missense_Mutation_p.S142N NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 158 integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GAAGATATTACTGATGACCAT 0.532 NaN 0 0 0 0.021022 0 35 178 MAN1C1 57134 broad.mit.edu 37 1 26073233 26073233 + Nonsense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:26073233G>T uc001bkm.2 + 3 1042 c.712G>T c.(712-714)GAG>TAG p.E238* MAN1C1_uc009vry.1_Nonsense_Mutation_p.E58* NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 238 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GGAGTTCCAGGAGGCCAAGGC 0.642 NaN 1 0 2.44723e-14 0.024334 2.63928e-14 23 35 ZBTB8A 653121 broad.mit.edu 37 1 33058581 33058581 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:33058581C>T uc001bvn.2 + 3 534 c.49C>T c.(49-51)CAG>TAG p.Q17* ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Nonsense_Mutation_p.Q17* NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGAACGAGCAGCGCAGGCA 0.418 NaN 0 0 0 0.021523 0 25 36 YARS 8565 broad.mit.edu 37 1 33272134 33272134 + Silent SNP T T A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:33272134T>A uc001bvy.1 - 4 1247 c.459A>T c.(457-459)GTA>GTT p.V153V NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 153 Missing (in CMTDIC). apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) CCACCTGCTTTACCACCTCAG 0.542 NaN 0 0 0 0.009535 0 29 141 NT5C1A 84618 broad.mit.edu 37 1 40131908 40131908 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:40131908G>A uc001cdq.1 - 2 136 c.136C>T c.(136-138)CCC>TCC p.P46S NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 46 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGAGGCTTGGGCTGCAGAGGT 0.582 NaN 0 0 0 0.014758 0 5 93 STIL 6491 broad.mit.edu 37 1 47716863 47716863 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:47716863G>A uc001crc.1 - 17 3964 c.3809C>T c.(3808-3810)TCA>TTA p.S1270L TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1224L|STIL_uc010omo.1_Missense_Mutation_p.S1253L|STIL_uc001crd.1_Missense_Mutation_p.S1271L|STIL_uc001cre.1_Missense_Mutation_p.S1270L NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1270 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GGTGCCTACTGAATTCATGCT 0.383 NaN 0 0 0 0.01441 0 82 70 ZNHIT6 54680 broad.mit.edu 37 1 86172186 86172186 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:86172186C>G uc001dlh.2 - 2 795 c.661G>C c.(661-663)GAG>CAG p.E221Q ZNHIT6_uc010osc.1_Missense_Mutation_p.E182Q NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN zinc finger, HIT type 6 221 HIT-type. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding large_intestine(1) 1 CCACAAGTCTCACACCTACAA 0.318 NaN 0 0 0 0.01441 0 64 115 BRDT 676 broad.mit.edu 37 1 92441909 92441909 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:92441909C>A uc001dok.3 + 5 881 c.532C>A c.(532-534)CCT>ACT p.P178T BRDT_uc001dol.3_Missense_Mutation_p.P178T|BRDT_uc010osz.1_Missense_Mutation_p.P182T|BRDT_uc009wdf.2_Missense_Mutation_p.P105T|BRDT_uc010ota.1_Missense_Mutation_p.P132T|BRDT_uc010otb.1_Missense_Mutation_p.P132T|BRDT_uc001dom.3_Missense_Mutation_p.P178T NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCAAGAAATTCCTTCTGTATT 0.403 NaN 1 0 4.36969e-10 0.016723 4.60926e-10 12 83 BCAR3 8412 broad.mit.edu 37 1 94027918 94027918 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:94027918C>G uc001dpz.2 - 12 2633 c.2358G>C c.(2356-2358)TTG>TTC p.L786F BCAR3_uc001dqa.2_Missense_Mutation_p.L786F|BCAR3_uc001dqb.2_Missense_Mutation_p.L786F|BCAR3_uc001dpx.3_Missense_Mutation_p.L462F|BCAR3_uc001dpy.2_Missense_Mutation_p.L695F NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 786 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TGCCCCATAGCAATCGCATTT 0.388 NaN 0 0 0 0.01441 0 74 72 CSF1 1435 broad.mit.edu 37 1 110456967 110456967 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:110456967G>A uc001dyu.2 + 2 539 c.126G>A c.(124-126)ATG>ATA p.M42I CSF1_uc001dyt.2_Missense_Mutation_p.M42I|CSF1_uc001dyv.3_Missense_Mutation_p.M42I|CSF1_uc001dyw.3_Missense_Mutation_p.M42I NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 42 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GTAGCCACATGATTGGGAGTG 0.582 NaN 0 0 0 0.013537 0 13 54 RAP1A 5906 broad.mit.edu 37 1 112246033 112246033 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:112246033C>A uc001ebi.2 + 5 363 c.259C>A c.(259-261)CAG>AAG p.Q87K RAP1A_uc001ebk.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebl.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebm.2_RNA NM_002884 NP_002875 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family precursor 87 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity 0 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) TATTACAGCTCAGTCCACGTT 0.358 NaN 1 0 8.24728e-16 0.024334 8.95473e-16 23 93 FCGR1B 2210 broad.mit.edu 37 1 120930097 120930097 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:120930097G>A uc001eip.2 - 4 554 c.504C>T c.(502-504)TGC>TGT p.C168C FCGR1B_uc001eiq.2_Silent_p.C76C|FCGR1B_uc010oxl.1_RNA|FCGR1B_uc009whr.2_Silent_p.C168C|FCGR1B_uc009whs.2_Silent_p.C169C NM_001017986 NP_001017986 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor 168 Extracellular (Potential).|Ig-like C2-type 2. interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity 0 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) CCATGCCTGAGCAATGGTAGG 0.408 NaN 0 0 0 0.01441 0 37 230 HORMAD1 84072 broad.mit.edu 37 1 150676596 150676596 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:150676596G>A uc001evk.1 - 12 1052 c.946C>T c.(946-948)CAG>TAG p.Q316* HORMAD1_uc001evl.1_Nonsense_Mutation_p.Q309*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.Q236* NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 316 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GTTTATACCTGAGAATGAGAA 0.299 NaN 0 0 0 0.021553 0 5 77 IVL 3713 broad.mit.edu 37 1 152882824 152882824 + Missense_Mutation SNP A A T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:152882824A>T uc001fau.2 + 2 597 c.551A>T c.(550-552)GAG>GTG p.E184V NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 184 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|4. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gggcagctggagctcccagag 0.055 NaN 0 0 0 0.004672 0 3 7 INTS3 65123 broad.mit.edu 37 1 153744827 153744827 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:153744827C>G uc009wom.2 + 28 2953 c.2732C>G c.(2731-2733)TCT>TGT p.S911C INTS3_uc001fct.2_Missense_Mutation_p.S911C|INTS3_uc001fcu.2_Missense_Mutation_p.S603C|INTS3_uc001fcv.2_Missense_Mutation_p.S705C|INTS3_uc010peb.1_Missense_Mutation_p.S705C|INTS3_uc001fcw.2_Missense_Mutation_p.S424C|INTS3_uc010pec.1_Missense_Mutation_p.S424C|INTS3_uc001fcy.2_Missense_Mutation_p.S208C|INTS3_uc001fcx.2_Missense_Mutation_p.S208C NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 912 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGAGGAGCTCTAGCAGCAAG 0.592 NaN OREG0013827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.020292 0 13 101 DENND4B 9909 broad.mit.edu 37 1 153906649 153906649 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:153906649C>T uc001fdd.1 - 19 3304 c.2903G>A c.(2902-2904)CGA>CAA p.R968Q uc001fdc.1_Intron NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 968 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGTGCCCCTCGGGCACTGCC 0.642 NaN 0 0 0 0.009096 0 4 10 DENND4B 9909 broad.mit.edu 37 1 153910053 153910053 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:153910053C>G uc001fdd.1 - 15 2544 c.2143G>C c.(2143-2145)GAG>CAG p.E715Q NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 715 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGAAGAGACTCAAACAACTCA 0.607 NaN 0 0 0 0.001984 0 7 32 DENND4B 9909 broad.mit.edu 37 1 153910278 153910278 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:153910278C>T uc001fdd.1 - 14 2428 c.2027G>A c.(2026-2028)GGA>GAA p.G676E NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 676 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGCTCACTTCCTGACAGCTC 0.542 NaN 0 0 0 0.027356 0 28 177 MEX3A 92312 broad.mit.edu 37 1 156047421 156047421 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:156047421C>T uc001fnd.3 - 2 507 c.507G>A c.(505-507)CCG>CCA p.P169P NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 169 KH 1. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CGCCCCTCACCGGTGTCTTGA 0.587 NaN 0 0 0 0.008291 0 10 16 IQGAP3 128239 broad.mit.edu 37 1 156521553 156521553 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:156521553G>A uc001fpf.2 - 15 1753 c.1678C>T c.(1678-1680)CCT>TCT p.P560S IQGAP3_uc009wsb.1_Missense_Mutation_p.P517S NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 560 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGCGACAGGGAGGCTGACA 0.572 NaN 0 0 0 0.027356 0 25 49 BAT2L2 23215 broad.mit.edu 37 1 171506532 171506532 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:171506532G>A uc010pmg.1 + 15 2684 c.2418G>A c.(2416-2418)CTG>CTA p.L806L BAT2L2_uc010pmh.1_5'Flank NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 806 protein C-terminus binding 0 CTCGTATGCTGTGGGGGTCAG 0.458 NaN 0 0 0 0.014758 0 5 31 PIGC 5279 broad.mit.edu 37 1 172410895 172410895 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:172410895C>T uc001gil.2 - 2 1149 c.868G>A c.(868-870)GAA>AAA p.E290K PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.E290K|PIGC_uc001gio.2_Missense_Mutation_p.E290K NM_153747 NP_714969 Q92535 PIGC_HUMAN phosphatidylinositol glycan, class C 290 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity lung(1) 1 GACAAGTCTTCCTTGATTTCA 0.388 NaN 0 0 0 0.01441 0 49 543 RABGAP1L 9910 broad.mit.edu 37 1 174247872 174247872 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:174247872C>G uc001gjx.2 + 10 1473 c.1278C>G c.(1276-1278)TTC>TTG p.F426L RABGAP1L_uc009wwq.1_Missense_Mutation_p.F438L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.F389L|RABGAP1L_uc001gjy.2_Missense_Mutation_p.F94L|RABGAP1L_uc001gjz.2_Missense_Mutation_p.F73L NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 426 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 TTTGGTATTTCAGCAGAAAGA 0.423 NaN 0 0 0 0.01441 0 148 320 FAM129A 116496 broad.mit.edu 37 1 184792404 184792404 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:184792404C>G uc001gra.2 - 8 1076 c.882G>C c.(880-882)TTG>TTC p.L294F FAM129A_uc001grb.1_Missense_Mutation_p.L57F|FAM129A_uc009wyh.1_Missense_Mutation_p.L122F|FAM129A_uc009wyi.1_Missense_Mutation_p.L92F NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 294 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 ATTCCTCCTTCAAGGCACTTA 0.458 NaN 0 0 0 0.020292 0 15 242 ADORA1 134 broad.mit.edu 37 1 203134960 203134960 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:203134960G>A uc001gze.1 + 4 1346 c.913G>A c.(913-915)GAC>AAC p.D305N FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.D305N|ADORA1_uc010pqg.1_Missense_Mutation_p.D237N|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.D338N NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 305 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GATTTGGAATGACCATTTCCG 0.572 NaN 0 0 0 0.004007 0 16 38 PLXNA2 5362 broad.mit.edu 37 1 208227794 208227794 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:208227794G>C uc001hgz.2 - 14 3586 c.2828C>G c.(2827-2829)ACG>AGG p.T943R NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 943 Extracellular (Potential).|IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ATGGGACTTCGTCATGAACTC 0.592 NaN 0 0 0 0.00499 0 18 55 USH2A 7399 broad.mit.edu 37 1 216348659 216348659 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:216348659C>T uc001hku.1 - 21 4949 c.4562G>A c.(4561-4563)CGT>CAT p.R1521H USH2A_uc001hkv.2_Missense_Mutation_p.R1521H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1521 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) TCCTATGAAACGGATTCCTTT 0.428 NaN HNSCC(13;0.011) 0 0 0 0.00499 0 17 48 HHIPL2 79802 broad.mit.edu 37 1 222696178 222696178 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:222696178G>A uc001hnh.1 - 9 1998 c.1940C>T c.(1939-1941)TCT>TTT p.S647F NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 647 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) TGCACTGGAAGATTTTCTAGC 0.433 NaN 0 0 0 0.014323 0 22 150 OBSCN 84033 broad.mit.edu 37 1 228464926 228464926 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:228464926C>T uc009xez.1 + 24 6710 c.6666C>T c.(6664-6666)CTC>CTT p.L2222L OBSCN_uc001hsn.2_Silent_p.L2222L|OBSCN_uc001hsp.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2222 Ig-like 22. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCAGGAGCCTCACCATTTACC 0.637 NaN 0 0 0 0.001984 0 6 7 OR2C3 81472 broad.mit.edu 37 1 247694861 247694861 + Missense_Mutation SNP G G A rs147306837 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:247694861G>A uc009xgy.2 - 2 1315 c.953C>T c.(952-954)GCG>GTG p.A318V C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 318 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTAAATTTGCGCCAGCTTGCC 0.512 NaN 0 0 0 0.004007 0 16 42 AKR1E2 83592 broad.mit.edu 37 10 4889679 4889679 + Splice_Site SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:4889679G>A uc001ihi.2 + 10 1036 c.921_splice c.e10-1 p.I307_splice AKR1E2_uc001ihl.1_Intron|AKR1E2_uc009xhw.2_Splice_Site_p.I209_splice|AKR1E2_uc001ihj.2_Splice_Site|AKR1E2_uc001ihk.2_Splice_Site_p.I250_splice NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 CTGTTTTTCAGAACTAAAAAT 0.343 NaN 0 0 0 0.024245 0 14 106 PFKFB3 5209 broad.mit.edu 37 10 6262698 6262698 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:6262698G>T uc001ije.2 + 8 1085 c.701G>T c.(700-702)CGC>CTC p.R234L PFKFB3_uc001ijd.2_Missense_Mutation_p.R214L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R248L|PFKFB3_uc001ijf.2_Missense_Mutation_p.R234L NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 234 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 ATCCAGAGCCGCATCGTGTAC 0.622 NaN 1 0 2.35188e-11 0.006122 2.49175e-11 16 115 FAM171A1 221061 broad.mit.edu 37 10 15325988 15325988 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:15325988C>T uc001iob.2 - 2 221 c.214G>A c.(214-216)GGC>AGC p.G72S NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 72 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AAGGCGACGCCATCAGTCCCC 0.577 NaN 0 0 0 0.027356 0 29 21 ZNF33B 7582 broad.mit.edu 37 10 43088814 43088815 + Missense_Mutation DNP AT AT TA rs149558146 by1000genomes TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:43088814_43088815AT>TA uc001jaf.1 - 5 1698_1699 c.1583_1584AT>TA c.(1582-1584)TAT>TTA p.Y528L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.Y416L|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 528 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCCCACATTCATAACATTCATA 0.411 NaN 0 0 0 0.004672 0 49 104 PPA1 5464 broad.mit.edu 37 10 71978536 71978536 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:71978536G>C uc001jqv.1 - 3 268 c.161C>G c.(160-162)TCT>TGT p.S54C NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 54 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 TTTTGCATTAGACCAGCGTGG 0.403 NaN 0 0 0 0.016723 0 12 16 OIT3 170392 broad.mit.edu 37 10 74692170 74692170 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:74692170G>T uc001jte.1 + 9 1744 c.1526G>T c.(1525-1527)TGT>TTT p.C509F OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 509 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) CGTTCCCGCTGTGCCCAGGGT 0.567 NaN 1 0 3.38236e-24 0.027894 3.73145e-24 38 93 ZMIZ1 57178 broad.mit.edu 37 10 81050724 81050724 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:81050724G>A uc001kaf.2 + 10 1121 c.549G>A c.(547-549)GGG>GGA p.G183G ZMIZ1_uc001kag.2_Silent_p.G59G|ZMIZ1_uc001kah.1_Silent_p.G59G NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 183 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGGTCCTTGGGAACCCTATGG 0.567 NaN 0 0 0 0.020292 0 15 39 RNLS 55328 broad.mit.edu 37 10 90342026 90342026 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:90342026G>T uc001kfe.2 - 2 292 c.157C>A c.(157-159)CAG>AAG p.Q53K RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.Q53K NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 53 extracellular region oxidoreductase activity ovary(1) 1 GCTGTGCACTGAGGATTATGA 0.433 NaN 1 0 2.80697e-09 0.010729 2.94794e-09 11 18 NPM3 10360 broad.mit.edu 37 10 103542092 103542092 + Missense_Mutation SNP A A C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:103542092A>C uc001ktt.2 - 4 364 c.341T>G c.(340-342)TTC>TGC p.F114C NM_006993 NP_008924 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 114 nucleic acid binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TTGGAGCTGGAAGTCATCCAG 0.592 NaN 0 0 0 0.004672 0 3 10 C10orf79 80217 broad.mit.edu 37 10 105942272 105942272 + Splice_Site SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:105942272C>T uc001kxw.2 - 17 2258 c.2142_splice c.e17-1 p.K714_splice C10orf79_uc009xxq.2_Splice_Site_p.K22_splice|C10orf79_uc001kxx.3_Splice_Site_p.K715_splice NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCCAAATCGCCTATATTAATA 0.323 NaN 0 0 0 0.008291 0 10 37 RAB11FIP2 22841 broad.mit.edu 37 10 119799755 119799755 + Silent SNP C C A rs138355819 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:119799755C>A uc001ldj.1 - 2 1115 c.675G>T c.(673-675)GCG>GCT p.A225A RAB11FIP2_uc009xyz.1_Silent_p.A225A NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 225 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) ACATTGAATGCGCTGACGAGA 0.443 NaN 1 0 4.34086e-07 0.023175 4.50962e-07 36 134 DMBT1 1755 broad.mit.edu 37 10 124339407 124339407 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:124339407C>T uc001lgk.1 + 10 1099 c.993C>T c.(991-993)GTC>GTT p.V331V DMBT1_uc001lgl.1_Silent_p.V331V|DMBT1_uc001lgm.1_Silent_p.V331V|DMBT1_uc009xzz.1_Silent_p.V331V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V183V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 331 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACGCTGGTGTCATCTGCTCAG 0.527 NaN 0 0 0 0.020292 0 14 60 C10orf137 26098 broad.mit.edu 37 10 127414265 127414265 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr10:127414265G>T uc001liq.1 + 6 943 c.650G>T c.(649-651)GGA>GTA p.G217V C10orf137_uc001lin.2_Missense_Mutation_p.G217V|C10orf137_uc001lio.1_Missense_Mutation_p.G217V|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AATGGTGATGGAGCCGCTCAG 0.453 NaN 1 0 9.31168e-06 0.016723 9.61141e-06 12 38 ANO9 338440 broad.mit.edu 37 11 433382 433382 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:433382G>A uc001lpi.2 - 4 367 c.282C>T c.(280-282)CTC>CTT p.L94L ANO9_uc010qvv.1_5'UTR NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 94 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CAGGCTCCAGGAGGAAAGTGC 0.647 NaN 0 0 0 0.007413 0 19 75 CTSD 1509 broad.mit.edu 37 11 1782618 1782618 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:1782618C>T uc001luc.1 - 2 282 c.149G>A c.(148-150)GGC>GAC p.G50D CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 50 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGAGACGGGGCCTTTGGCAAT 0.622 NaN 0 0 0 0.024245 0 15 43 OSBPL5 114879 broad.mit.edu 37 11 3111839 3111839 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:3111839C>G uc001lxk.2 - 20 2505 c.2347G>C c.(2347-2349)GAG>CAG p.E783Q OSBPL5_uc010qxq.1_Missense_Mutation_p.E694Q|OSBPL5_uc009ydw.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxl.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxj.2_Missense_Mutation_p.E237Q NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 783 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGGCAGGACTCAGGCGTGGAT 0.667 NaN 0 0 0 0.009096 0 4 34 RRM1 6240 broad.mit.edu 37 11 4127384 4127384 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:4127384G>C uc001lyw.3 + 3 536 c.217G>C c.(217-219)GAC>CAC p.D73H RRM1_uc009yeh.1_Intron|RRM1_uc009yei.2_Missense_Mutation_p.D33H|RRM1_uc010qyc.1_Intron NM_001033 NP_001024 P23921 RIR1_HUMAN ribonucleoside-diphosphate reductase M1 chain 73 ATP-cone. deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TAAGCACCCTGACTATGCTAT 0.448 NaN 0 0 0 0.008871 0 18 41 DNHD1 144132 broad.mit.edu 37 11 6588563 6588563 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:6588563C>G uc001mdw.3 + 36 12388 c.11824C>G c.(11824-11826)CTG>GTG p.L3942V DNHD1_uc001mea.3_Missense_Mutation_p.L211V|DNHD1_uc001meb.2_Missense_Mutation_p.L210V|DNHD1_uc001mec.2_Missense_Mutation_p.L210V|DNHD1_uc010rao.1_Missense_Mutation_p.L200V|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 3942 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CGCTTTGGCTCTGCTGCAAGC 0.597 NaN 0 0 0 0.00499 0 17 47 ABCC8 6833 broad.mit.edu 37 11 17464306 17464306 + Missense_Mutation SNP T T A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:17464306T>A uc001mnc.2 - 10 1717 c.1591A>T c.(1591-1593)ACC>TCC p.T531S ABCC8_uc010rcy.1_Missense_Mutation_p.T530S NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 531 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGAGGCTGGTCATCTCCTTC 0.607 NaN 0 0 0 0.013537 0 13 65 KIF18A 81930 broad.mit.edu 37 11 28057955 28057955 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:28057955G>A uc001msc.2 - 14 2387 c.2205C>T c.(2203-2205)ATC>ATT p.I735I NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 735 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 TGTTTGAGCTGATAGCCTGAA 0.353 NaN 0 0 0 0.01441 0 56 153 EXT2 2132 broad.mit.edu 37 11 44129413 44129413 + Nonsense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:44129413G>T uc001mxz.2 + 2 485 c.151G>T c.(151-153)GAG>TAG p.E51* EXT2_uc010rfo.1_Nonsense_Mutation_p.E79*|EXT2_uc001mxy.2_Nonsense_Mutation_p.E64*|EXT2_uc009ykt.2_Nonsense_Mutation_p.E51*|EXT2_uc001mya.2_Nonsense_Mutation_p.E84* NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 51 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 CCATTCTATCGAGTCCTCAAA 0.532 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 1 0 3.07112e-06 0.010729 3.17679e-06 12 207 MAPK8IP1 9479 broad.mit.edu 37 11 45924345 45924345 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:45924345G>C uc001nbr.2 + 5 1197 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 343 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) GTCGTCCCCAGAGCGGGCTGA 0.721 NaN 0 0 0 0.009096 0 4 12 ACP2 53 broad.mit.edu 37 11 47267305 47267305 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:47267305C>T uc001nei.2 - 4 495 c.378G>A c.(376-378)GGG>GGA p.G126G ACP2_uc010rhe.1_Silent_p.G98G|ACP2_uc009ylj.2_Silent_p.G54G|ACP2_uc010rhf.1_Silent_p.G94G|ACP2_uc010rhg.1_Silent_p.G126G|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Silent_p.G126G|ACP2_uc010rhj.1_Silent_p.G126G|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 126 Lumenal (Potential). integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 AGCGCTGCATCCCGTTGGGAG 0.572 NaN 0 0 0 0.007413 0 16 127 OR4A5 81318 broad.mit.edu 37 11 51411989 51411989 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:51411989C>T uc001nhi.1 - 1 407 c.407G>A c.(406-408)CGA>CAA p.R136Q NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GCAAACCTGTCGATTCATGAT 0.478 NaN 0 0 0 0.016723 0 13 89 OR8H3 390152 broad.mit.edu 37 11 55889867 55889867 + Missense_Mutation SNP G G A rs148197076 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:55889867G>A uc001nii.1 + 1 19 c.19G>A c.(19-21)GAC>AAC p.D7N NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TAGAAGGAATGACACAAATGT 0.323 NaN 0 0 0 0.01441 0 45 187 OR4D9 390199 broad.mit.edu 37 11 59283252 59283252 + Silent SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:59283252G>T uc010rkv.1 + 1 867 c.867G>T c.(865-867)CTG>CTT p.L289L NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTACACGCTGAGGAATCAGG 0.453 NaN 1 0 6.32553e-13 0.024334 6.7463e-13 27 188 OR4D9 390199 broad.mit.edu 37 11 59283288 59283288 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:59283288G>A uc010rkv.1 + 1 903 c.903G>A c.(901-903)CTG>CTA p.L301L NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGAGGAAACTGAAGAGACGGC 0.388 NaN 0 0 0 0.010504 0 21 132 VPS37C 55048 broad.mit.edu 37 11 60901556 60901556 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:60901556C>G uc001nqv.1 - 3 277 c.217G>C c.(217-219)GAG>CAG p.E73Q VPS37C_uc001nqw.1_Missense_Mutation_p.E73Q NM_017966 NP_060436 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37C 73 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 TTCCGGAGCTCCTGGTATCTA 0.617 NaN 0 0 0 0.013114 0 43 120 TRPT1 83707 broad.mit.edu 37 11 63991404 63991404 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:63991404C>G uc001nyo.2 - 8 920 c.706G>C c.(706-708)GAG>CAG p.E236Q TRPT1_uc010rnc.1_Missense_Mutation_p.E237Q|TRPT1_uc010rnd.1_Missense_Mutation_p.E238Q|TRPT1_uc001nyn.2_Missense_Mutation_p.E187Q|TRPT1_uc010rne.1_Missense_Mutation_p.E199Q|TRPT1_uc010rnf.1_Missense_Mutation_p.E236Q|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank NM_001033678 NP_001028850 Q86TN4 TRPT1_HUMAN tRNA phosphotransferase 1 isoform 1 236 tRNA 2'-phosphotransferase activity 0 CTCTGACACTCTGTCTCTTCA 0.398 NaN 0 0 0 0.016723 0 13 116 FKBP2 2286 broad.mit.edu 37 11 64010754 64010754 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:64010754C>T uc001nyy.2 + 3 451 c.255C>T c.(253-255)GTC>GTT p.V85V FKBP2_uc010rnh.1_Silent_p.V85V|FKBP2_uc001nyz.2_Silent_p.V85V NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 85 PPIase FKBP-type. protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 CAGGCCAGGTCATCAAGGGCT 0.622 NaN 0 0 0 0.004007 0 17 57 PLCB3 5331 broad.mit.edu 37 11 64033975 64033975 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:64033975C>G uc001nzb.2 + 29 3365 c.3365C>G c.(3364-3366)ACG>AGG p.T1122R PLCB3_uc009ypg.1_Missense_Mutation_p.T1122R|PLCB3_uc009yph.1_Missense_Mutation_p.T1055R|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122R NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1122 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 AGGGAACTGACGGAGATTAAC 0.652 NaN 0 0 0 0.008291 0 9 66 SLC22A12 116085 broad.mit.edu 37 11 64360326 64360326 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:64360326G>A uc001oam.1 + 2 1225 c.478G>A c.(478-480)GCT>ACT p.A160T SLC22A12_uc009ypr.1_Missense_Mutation_p.A160T|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.A160T|SLC22A12_uc001oan.1_Missense_Mutation_p.A160T|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 160 Helical; (Potential). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 TCTGGTGGGAGCTGCTGCGTG 0.632 NaN 0 0 0 0.014323 0 21 105 ATG2A 23130 broad.mit.edu 37 11 64665359 64665359 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:64665359C>T uc001obx.2 - 35 5061 c.4946G>A c.(4945-4947)GGA>GAA p.G1649E ATG2A_uc001obw.2_Missense_Mutation_p.G414E NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1649 protein binding ovary(1)|central_nervous_system(1) 2 GTGTCCACCTCCTGGGGCCTC 0.697 NaN 0 0 0 0.004482 0 7 49 PPP2R5B 5526 broad.mit.edu 37 11 64699064 64699064 + Missense_Mutation SNP A A G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:64699064A>G uc001oby.2 + 10 1564 c.979A>G c.(979-981)ACC>GCC p.T327A PPP2R5B_uc001obz.2_Missense_Mutation_p.T327A NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 327 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CTGGCCAAAAACCTGCACCCA 0.587 NaN 0 0 0 0.004672 0 3 16 PPFIA1 8500 broad.mit.edu 37 11 70201868 70201868 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:70201868G>A uc001opo.2 + 18 2637 c.2439G>A c.(2437-2439)AAG>AAA p.K813K PPFIA1_uc001opn.1_Silent_p.K813K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 813 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGTTTGGCAAGAAAGAAAAGG 0.547 NaN 0 0 0 0.007291 0 27 62 RNF121 55298 broad.mit.edu 37 11 71668300 71668300 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:71668300G>C uc001ora.2 + 2 431 c.91G>C c.(91-93)GAG>CAG p.E31Q RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 31 integral to membrane zinc ion binding 0 CTCTCCAGAAGAGCAATGGAG 0.443 NaN 0 0 0 0.024334 0 21 103 KDM4D 55693 broad.mit.edu 37 11 94731431 94731431 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:94731431C>T uc001pfe.2 + 3 1727 c.895C>T c.(895-897)CGA>TGA p.R299* NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 299 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGCCACTCCGCGATGGATTGA 0.537 NaN 0 0 0 0.007413 0 19 81 MMP10 4319 broad.mit.edu 37 11 102645984 102645984 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:102645984G>C uc001phg.1 - 7 1023 c.1001C>G c.(1000-1002)TCT>TGT p.S334C NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 334 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGATGGAAGAGAGGGCCAAAA 0.353 NaN 0 0 0 0.004007 0 15 74 ARHGAP20 57569 broad.mit.edu 37 11 110582896 110582896 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:110582896G>C uc001pkz.1 - 2 344 c.59C>G c.(58-60)TCC>TGC p.S20C ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 20 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) TCCTGTCAGGGAAGAGGAGCG 0.483 NaN 0 0 0 0.001984 0 6 6 TTC36 143941 broad.mit.edu 37 11 118399370 118399370 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:118399370G>C uc001ptg.1 + 2 171 c.171G>C c.(169-171)CAG>CAC p.Q57H TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank NM_001080441 NP_001073910 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 57 TPR 1. binding 0 TGGAGCTGCAGGGGGTGATGG 0.607 NaN 0 0 0 0.020292 0 14 77 OR8D1 283159 broad.mit.edu 37 11 124180599 124180599 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:124180599C>T uc010sag.1 - 1 64 c.64G>A c.(64-66)GAG>AAG p.E22K NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGCTGGAGCTCTGCTTGCTGT 0.453 NaN 0 0 0 0.01441 0 61 132 HYLS1 219844 broad.mit.edu 37 11 125769668 125769668 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:125769668G>A uc009zbv.2 + 4 939 c.405G>A c.(403-405)CTG>CTA p.L135L HYLS1_uc001qcx.3_Silent_p.L135L|PUS3_uc001qcy.2_Intron NM_145014 NP_659451 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 135 centrosome|nucleus upper_aerodigestive_tract(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) GACAAAGGCTGATGAATGTAC 0.383 NaN 0 0 0 0.01441 0 52 118 NTM 50863 broad.mit.edu 37 11 132016342 132016342 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr11:132016342C>A uc001qgp.2 + 2 998 c.334C>A c.(334-336)CCT>ACT p.P112T NTM_uc001qgm.2_Missense_Mutation_p.P112T|NTM_uc010sch.1_Missense_Mutation_p.P103T|NTM_uc010sci.1_Missense_Mutation_p.P112T|NTM_uc010scj.1_Missense_Mutation_p.P71T|NTM_uc001qgo.2_Missense_Mutation_p.P112T|NTM_uc001qgq.2_Missense_Mutation_p.P112T NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 112 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.P112H(1) ovary(4)|central_nervous_system(1)|skin(1) 6 TGACGAGGGCCCTTACACCTG 0.577 NaN 1 0 1.49906e-05 0.020292 1.544e-05 12 88 KLRB1 3820 broad.mit.edu 37 12 9752379 9752379 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:9752379G>T uc010sgt.1 - 3 305 c.243C>A c.(241-243)AGC>AGA p.S81R NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 81 Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TTTTATTCCTGCTCTGTTGAA 0.264 NaN 1 0 5.73435e-26 0.01441 6.34074e-26 42 127 WBP11 51729 broad.mit.edu 37 12 14949871 14949871 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:14949871C>T uc001rci.2 - 5 418 c.257G>A c.(256-258)CGT>CAT p.R86H NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 86 Potential. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 AAAGGTTTCACGCAGCTTTTT 0.338 NaN 0 0 0 0.01892 0 24 98 RECQL 5965 broad.mit.edu 37 12 21624414 21624414 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:21624414G>C uc001rex.2 - 14 1963 c.1615C>G c.(1615-1617)CGT>GGT p.R539G RECQL_uc001rey.2_Missense_Mutation_p.R539G NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 539 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 AGATCTTCACGAGGAAGTGTG 0.388 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.007291 0 26 133 ITPR2 3709 broad.mit.edu 37 12 26709193 26709193 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:26709193C>A uc001rhg.2 - 36 5354 c.4937G>T c.(4936-4938)AGA>ATA p.R1646I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1646 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ACATCTTATTCTTGCATCGCT 0.458 NaN 1 0 1.14856e-27 0.01441 1.27295e-27 59 134 ITPR2 3709 broad.mit.edu 37 12 26709224 26709224 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:26709224C>T uc001rhg.2 - 36 5323 c.4906G>A c.(4906-4908)GAA>AAA p.E1636K NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1636 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AACAGCAGTTCTGGACTGTAC 0.473 NaN 0 0 0 0.01441 0 46 111 OVCH1 341350 broad.mit.edu 37 12 29598224 29598224 + Silent SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:29598224G>C uc001rix.1 - 23 2868 c.2868C>G c.(2866-2868)GTC>GTG p.V956V NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 956 CUB 3. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GGACTTTCAAGACAATATAGC 0.353 NaN 0 0 0 0.007835 0 40 97 C12orf35 55196 broad.mit.edu 37 12 32133998 32133998 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:32133998C>G uc001rks.2 + 4 523 c.109C>G c.(109-111)CAG>GAG p.Q37E NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 37 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CACAACATCTCAGAGTTCTTT 0.393 NaN 0 0 0 0.012319 0 23 120 C12orf44 60673 broad.mit.edu 37 12 52470629 52470629 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:52470629G>A uc001rzu.3 + 4 787 c.312G>A c.(310-312)CAG>CAA p.Q104Q C12orf44_uc009zmd.2_Silent_p.Q104Q|uc009zme.1_5'Flank NM_021934 NP_068753 Q9BSB4 ATGA1_HUMAN Atg13-interacting protein 104 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0978) AGTTCTACCAGAAGAAGAAGT 0.592 NaN 0 0 0 0.00632 0 28 53 KRT79 338785 broad.mit.edu 37 12 53216964 53216964 + Silent SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:53216964G>C uc001sbb.2 - 7 1236 c.1203C>G c.(1201-1203)CTC>CTG p.L401L KRT79_uc001sba.2_Silent_p.L172L NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 401 Rod.|Coil 2. keratin filament structural molecule activity ovary(2)|skin(2) 4 GAGCATCCTTGAGTGCCAGCT 0.617 NaN 0 0 0 0.016522 0 24 43 MFSD5 84975 broad.mit.edu 37 12 53646663 53646663 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:53646663C>A uc001sci.1 + 2 235 c.44C>A c.(43-45)TCC>TAC p.S15Y MFSD5_uc001sch.1_Missense_Mutation_p.S122Y NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 15 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 CTCCTGGCCTCCTGCCTGGGG 0.592 NaN 1 0 8.16277e-20 0.027894 8.96414e-20 42 65 NCKAP1L 3071 broad.mit.edu 37 12 54902260 54902260 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:54902260C>T uc001sgc.3 + 5 530 c.451C>T c.(451-453)CGG>TGG p.R151W NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R101W NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 151 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GATTGAAGATCGGCGGATACT 0.423 NaN 0 0 0 0.01441 0 136 259 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:57485457T>C uc001smz.2 + 2 1011 c.633T>C c.(631-633)CCT>CCC p.P211P NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCTCCCCCCCTGCAGGGGGAG 0.711 NaN 0 0 0 0.020292 0 7 28 PTPRB 5787 broad.mit.edu 37 12 70963557 70963557 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:70963557C>G uc001swb.3 - 12 2908 c.2878G>C c.(2878-2880)GAG>CAG p.E960Q PTPRB_uc010sto.1_Missense_Mutation_p.E960Q|PTPRB_uc010stp.1_Missense_Mutation_p.E870Q|PTPRB_uc001swc.3_Missense_Mutation_p.E1178Q|PTPRB_uc001swa.3_Missense_Mutation_p.E1090Q|PTPRB_uc001swd.3_Missense_Mutation_p.E1177Q|PTPRB_uc009zrr.1_Missense_Mutation_p.E1057Q NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 960 Fibronectin type-III 11.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AACGTGTGCTCAAAGACGTGC 0.542 NaN 0 0 0 0.012319 0 19 58 PPP1R12A 4659 broad.mit.edu 37 12 80200075 80200075 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:80200075G>C uc001syz.2 - 13 1961 c.1694C>G c.(1693-1695)TCT>TGT p.S565C PPP1R12A_uc010suc.1_Missense_Mutation_p.S478C|PPP1R12A_uc001sza.2_Intron|PPP1R12A_uc010sud.1_Missense_Mutation_p.S565C|PPP1R12A_uc001szb.2_Missense_Mutation_p.S565C|PPP1R12A_uc001szc.2_Missense_Mutation_p.S565C NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 565 Ser/Thr-rich. contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 TGGAACACTAGAACTAATCAA 0.388 NaN 0 0 0 0.01441 0 50 281 PPFIA2 8499 broad.mit.edu 37 12 81746948 81746948 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:81746948C>G uc001szo.1 - 17 2105 c.1944G>C c.(1942-1944)ACG>ACC p.T648T PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 574 ovary(3)|lung(2)|pancreas(1) 6 TCATGGCTAGCGTCTGGGCAT 0.383 NaN 0 0 0 0.019004 0 33 112 IKBIP 121457 broad.mit.edu 37 12 99028127 99028127 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:99028127C>G uc001tfv.2 - 2 354 c.244G>C c.(244-246)GAA>CAA p.E82Q IKBIP_uc001tfw.2_Intron|IKBIP_uc001tfx.2_Missense_Mutation_p.E82Q NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 82 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 TCATTGGTTTCTAGTTTCAGT 0.328 NaN 0 0 0 0.004482 0 9 55 MMAB 326625 broad.mit.edu 37 12 110002954 110002954 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:110002954C>T uc001tou.2 - 4 391 c.318G>A c.(316-318)AAG>AAA p.K106K MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Silent_p.K15K|MMAB_uc001tox.2_Silent_p.K54K NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 106 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGTATGGCCCTTTTCTGTGA 0.463 NaN 0 0 0 0.027894 0 38 120 TBX5 6910 broad.mit.edu 37 12 114793706 114793706 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:114793706G>A uc001tvo.2 - 9 1683 c.1188C>T c.(1186-1188)ATC>ATT p.I396I TBX5_uc001tvp.2_Silent_p.I396I|TBX5_uc001tvq.2_Silent_p.I346I NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 396 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGTTGCAGCTGATGTCCTCTA 0.632 NaN 0 0 0 0.00499 0 15 72 C12orf49 79794 broad.mit.edu 37 12 117175649 117175649 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:117175649G>A uc001tvz.1 - 1 195 c.57C>T c.(55-57)CTC>CTT p.L19L RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Missense_Mutation_p.R42C NM_024738 NP_079014 Q9H741 CL049_HUMAN hypothetical protein LOC79794 precursor 19 extracellular region ovary(1) 1 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) AGACCAGGGCGAGCACCCACC 0.542 NaN 0 0 0 0.004482 0 7 30 SBNO1 55206 broad.mit.edu 37 12 123830066 123830066 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:123830066G>T uc010tap.1 - 3 289 c.289C>A c.(289-291)CCA>ACA p.P97T SBNO1_uc010tao.1_Missense_Mutation_p.P96T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.P97T|SBNO1_uc001ueu.2_Missense_Mutation_p.P96T|SBNO1_uc001uev.2_Missense_Mutation_p.P95T|SBNO1_uc009zxy.1_Missense_Mutation_p.P62T NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 97 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CCCAAGGGTGGAAGATGATTT 0.378 NaN 1 0 1.05317e-09 0.020292 1.10848e-09 14 69 CHFR 55743 broad.mit.edu 37 12 133420656 133420656 + Silent SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:133420656C>A uc001ulf.2 - 16 1920 c.1836G>T c.(1834-1836)CTG>CTT p.L612L CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.L600L|CHFR_uc010tbs.1_Silent_p.L611L|CHFR_uc001uld.2_Silent_p.L571L|CHFR_uc010tbt.1_Silent_p.L520L NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 612 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) ACTGATAGGTCAGCTCACGGA 0.542 NaN 1 0 1.80694e-10 0.009535 1.9102e-10 28 31 FAM123A 219287 broad.mit.edu 37 13 25744470 25744470 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:25744470C>G uc001uqb.2 - 1 1388 c.1288G>C c.(1288-1290)GAG>CAG p.E430Q FAM123A_uc001uqa.2_Missense_Mutation_p.E311Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E311Q NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 430 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCGTCCACCTCGTCCGGGCTG 0.652 NaN 0 0 0 0.006214 0 9 22 WASF3 10810 broad.mit.edu 37 13 27216530 27216530 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:27216530G>A uc001uqv.2 + 3 348 c.123G>A c.(121-123)CTG>CTA p.L41L WASF3_uc001uqw.2_Silent_p.L41L NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 41 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TACGCCAGCTGAGCAGTCTGA 0.418 NaN 0 0 0 0.01441 0 69 140 FLT1 2321 broad.mit.edu 37 13 28880827 28880827 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:28880827G>A uc001usb.3 - 29 4088 c.3803C>T c.(3802-3804)TCG>TTG p.S1268L FLT1_uc010aap.2_Missense_Mutation_p.S273L|FLT1_uc010aaq.2_Missense_Mutation_p.S393L|FLT1_uc001usa.3_Missense_Mutation_p.S486L NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1268 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AATCTTGAGCGAGGCCTTGGG 0.532 NaN 0 0 0 0.012319 0 22 45 DCLK1 9201 broad.mit.edu 37 13 36445432 36445432 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:36445432G>A uc001uvf.2 - 5 1102 c.869C>T c.(868-870)TCA>TTA p.S290L uc001uvi.1_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 290 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCTGCGGGATGATGAAGCTAT 0.507 NaN 0 0 0 0.01441 0 75 106 ENOX1 55068 broad.mit.edu 37 13 43872592 43872592 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:43872592C>T uc001uza.3 - 12 1636 c.1336G>A c.(1336-1338)GAG>AAG p.E446K ENOX1_uc001uzb.3_Missense_Mutation_p.E446K|ENOX1_uc001uzc.3_Missense_Mutation_p.E446K|ENOX1_uc001uyz.3_Missense_Mutation_p.E55K NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 446 Potential. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) AGCTCCACCTCATTCCTGTAG 0.522 NaN 0 0 0 0.016723 0 13 151 ZC3H13 23091 broad.mit.edu 37 13 46543642 46543642 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:46543642C>T uc010tfw.1 - 13 3043 c.3037G>A c.(3037-3039)GAT>AAT p.D1013N ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.D1013N|ZC3H13_uc001vat.1_Missense_Mutation_p.D1013N NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1013 Lys-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATATCAGAATCACCTTTGGAT 0.373 NaN 0 0 0 0.008291 0 10 64 UCHL3 7347 broad.mit.edu 37 13 76124114 76124114 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:76124114C>T uc001vjq.2 + 2 75 c.45C>T c.(43-45)GTC>GTT p.V15V NM_006002 NP_005993 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 15 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity 0 GBM - Glioblastoma multiforme(99;0.0125) GTTTTCAGGTCACCAACCAGG 0.622 NaN OREG0022446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 84 119 SLITRK1 114798 broad.mit.edu 37 13 84453946 84453946 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:84453946C>T uc001vlk.2 - 1 2583 c.1697G>A c.(1696-1698)AGA>AAA p.R566K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 566 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAAATCCTTTCTAAAGAAGTT 0.517 NaN 0 0 0 0.004482 0 8 41 MYO16 23026 broad.mit.edu 37 13 109777464 109777464 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:109777464C>G uc001vqt.1 + 30 3600 c.3474C>G c.(3472-3474)ATC>ATG p.I1158M MYO16_uc010agk.1_Missense_Mutation_p.I1180M|MYO16_uc010tjh.1_Missense_Mutation_p.I670M NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1158 IQ. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TAAAAGTTATCAGAGGATTTT 0.383 NaN 0 0 0 0.007413 0 17 45 MCF2L 23263 broad.mit.edu 37 13 113718683 113718683 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr13:113718683C>A uc001vsu.2 + 6 748 c.726C>A c.(724-726)GAC>GAA p.D242E MCF2L_uc001vsq.2_Missense_Mutation_p.D242E|MCF2L_uc010tjr.1_Missense_Mutation_p.D185E|MCF2L_uc001vsr.2_Missense_Mutation_p.D189E|MCF2L_uc001vss.3_Missense_Mutation_p.D183E|MCF2L_uc010tjs.1_Missense_Mutation_p.D183E|MCF2L_uc001vst.1_Missense_Mutation_p.D147E NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 215 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TGACCGAGGACCTGGGTGGGA 0.612 NaN 1 0 0.00621372 0.006214 0.00627899 9 73 CMTM5 116173 broad.mit.edu 37 14 23846484 23846484 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:23846484G>A uc010akm.2 + 1 468 c.24G>A c.(22-24)CGG>CGA p.R8R CMTM5_uc001wjs.2_Silent_p.R8R|CMTM5_uc001wjt.2_Silent_p.R8R|CMTM5_uc010akn.2_Silent_p.R8R|CMTM5_uc001wju.2_Silent_p.R8R|CMTM5_uc010ako.2_RNA NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 8 chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GAGATCGCCGGGACCGGCACC 0.612 NaN 0 0 0 0.008291 0 9 54 IRF9 10379 broad.mit.edu 37 14 24635333 24635333 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:24635333G>A uc001wmq.2 + 9 1237 c.1110G>A c.(1108-1110)ATG>ATA p.M370I RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Missense_Mutation_p.M154I NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 370 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) CAATACAGATGGAGCAGGCCT 0.592 NaN 0 0 0 0.020292 0 13 23 NYNRIN 57523 broad.mit.edu 37 14 24878489 24878489 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:24878489G>A uc001wpf.3 + 4 1807 c.1489G>A c.(1489-1491)GAT>AAT p.D497N NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 497 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TGAGCCGGGGGATCAAGGGAG 0.572 NaN 0 0 0 0.008291 0 9 37 PCNX 22990 broad.mit.edu 37 14 71374675 71374675 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:71374675C>G uc001xmo.2 + 1 554 c.108C>G c.(106-108)CTC>CTG p.L36L PCNX_uc001xmn.3_Silent_p.L36L|PCNX_uc010are.1_Silent_p.L36L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 36 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CGCTGCACCTCTACCTGTGGC 0.687 NaN 0 0 0 0.004482 0 6 12 HEATR4 399671 broad.mit.edu 37 14 73967257 73967257 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:73967257C>G uc010tub.1 - 12 2605 c.2283G>C c.(2281-2283)AAG>AAC p.K761N HEATR4_uc010tua.1_Missense_Mutation_p.K714N NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) GACTCACCATCTTGTCGCGGA 0.532 NaN 0 0 0 0.013114 0 41 35 C14orf45 80127 broad.mit.edu 37 14 74523874 74523874 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:74523874C>T uc010tup.1 + 11 1614 c.1491C>T c.(1489-1491)ATC>ATT p.I497I C14orf45_uc001xpm.1_RNA NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 497 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) AAGATAAAATCTTCATCACCC 0.398 NaN 0 0 0 0.007291 0 22 77 DICER1 23405 broad.mit.edu 37 14 95569761 95569761 + Silent SNP C C T rs45562437 byFrequency TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr14:95569761C>T uc001ydw.2 - 22 4154 c.3972G>A c.(3970-3972)AAG>AAA p.K1324K DICER1_uc010avh.1_Silent_p.K222K|DICER1_uc001ydv.2_Silent_p.K1314K|DICER1_uc001ydx.2_Silent_p.K1324K|DICER1_uc001ydy.1_Silent_p.K176K NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1324 RNase III 1. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGATGGCATGCTTTAAAAAGG 0.428 NaN Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 0 0 0 0.014758 0 4 63 UBE3A 7337 broad.mit.edu 37 15 25585264 25585264 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:25585264C>T uc001zaq.2 - 10 2475 c.2475G>A c.(2473-2475)ATG>ATA p.M825I uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.M802I|UBE3A_uc001zas.2_Missense_Mutation_p.M822I|UBE3A_uc001zat.2_Missense_Mutation_p.M802I NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 825 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TGGCTATAATCATCTTTAATT 0.393 NaN 0 0 0 0.014323 0 22 88 RYR3 6263 broad.mit.edu 37 15 33927868 33927868 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:33927868G>A uc001zhi.2 + 26 3299 c.3229G>A c.(3229-3231)GAG>AAG p.E1077K RYR3_uc010bar.2_Missense_Mutation_p.E1077K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1077 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTTCCGGGTAGAGCGATCTTA 0.522 NaN 0 0 0 0.004007 0 14 31 ITPKA 3706 broad.mit.edu 37 15 41793928 41793928 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:41793928C>T uc001znz.2 + 3 693 c.682C>T c.(682-684)CGC>TGC p.R228C NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 228 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TGACGCGCTGCGCGGCTGCGT 0.682 NaN 0 0 0 0.014758 0 5 13 SPTBN5 51332 broad.mit.edu 37 15 42143103 42143103 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:42143103G>A uc001zos.2 - 66 11098 c.10765C>T c.(10765-10767)CCG>TCG p.P3589S NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3624 PH. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCTTCGGACGGTGCTGCAAAC 0.682 NaN 0 0 0 0.004482 0 7 7 TP53BP1 7158 broad.mit.edu 37 15 43784619 43784619 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:43784619G>A uc001zrs.2 - 2 188 c.40C>T c.(40-42)CAG>TAG p.Q14* TP53BP1_uc010udp.1_Nonsense_Mutation_p.Q14*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q19* NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 14 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTATCTTGCTGAGAGAAATCT 0.453 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.009718 0 43 153 MAP1A 4130 broad.mit.edu 37 15 43816516 43816516 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:43816516G>C uc001zrt.2 + 4 3312 c.2845G>C c.(2845-2847)GAG>CAG p.E949Q NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 949 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGCAAACGTAGAGATGTCTGA 0.517 NaN 0 0 0 0.007413 0 19 115 UNC13C 440279 broad.mit.edu 37 15 54308011 54308011 + Missense_Mutation SNP T T A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:54308011T>A uc002ack.2 + 1 2911 c.2911T>A c.(2911-2913)TCT>ACT p.S971T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 971 Potential. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATTCGTCCTTCTTTCAAAGA 0.388 NaN 0 0 0 0.001984 0 5 13 CELF6 60677 broad.mit.edu 37 15 72608198 72608198 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:72608198C>T uc002auh.2 - 2 643 c.333G>A c.(331-333)AAG>AAA p.K111K uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Silent_p.K111K|CELF6_uc002aui.2_Missense_Mutation_p.D234N|CELF6_uc002auj.2_5'UTR NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 111 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 CTGGCAGGGTCTTCTGCTCGT 0.637 NaN 0 0 0 0.004672 0 3 7 FURIN 5045 broad.mit.edu 37 15 91423194 91423194 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:91423194C>T uc002bpu.1 + 12 1572 c.1356C>T c.(1354-1356)ATC>ATT p.I452I NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 452 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGTGCATCATCGACATCCTCA 0.667 NaN 0 0 0 0.001984 0 7 24 MSLNL 401827 broad.mit.edu 37 16 824500 824500 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:824500G>A uc002cjz.1 - 8 1741 c.1741C>T c.(1741-1743)CCT>TCT p.P581S NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 230 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CAGGAGCCAGGGGGCCTTGTG 0.716 NaN 0 0 0 0.006214 0 7 3 ZSCAN10 84891 broad.mit.edu 37 16 3140353 3140353 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:3140353C>T uc002ctv.1 - 5 1005 c.917G>A c.(916-918)CGC>CAC p.R306H ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R224H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R234H NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 306 C2H2-type 1. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGCCTTCAGGCGAGACAGCTG 0.642 NaN 0 0 0 0.007413 0 19 60 ZNF263 10127 broad.mit.edu 37 16 3333838 3333838 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:3333838C>T uc002cuq.2 + 1 352 c.20C>T c.(19-21)TCC>TTC p.S7F ZNF263_uc010uww.1_Intron|ZNF263_uc002cup.2_Missense_Mutation_p.S7F NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 7 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 GGCCCGGGCTCCCAGGAACGG 0.682 NaN 0 0 0 0.004482 0 8 24 GRIN2A 2903 broad.mit.edu 37 16 9857275 9857275 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:9857275G>A uc002czo.3 - 13 4674 c.4126C>T c.(4126-4128)CGC>TGC p.R1376C GRIN2A_uc010uym.1_Missense_Mutation_p.R1376C|GRIN2A_uc010uyn.1_Silent_p.N1104N|GRIN2A_uc002czr.3_Silent_p.N1261N NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1376 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATAACCAAGCGTTGGTCATCC 0.562 NaN 0 0 0 0.016723 0 13 80 SMG1 23049 broad.mit.edu 37 16 18823360 18823360 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:18823360C>G uc002dfm.2 - 61 11074 c.10711G>C c.(10711-10713)GCT>CCT p.A3571P SMG1_uc010bwb.2_Missense_Mutation_p.A3431P|SMG1_uc010bwa.2_Missense_Mutation_p.A2302P NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3571 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GGAGTATCAGCTGATGTAGCA 0.453 NaN 0 0 0 0.010729 0 10 66 CLN3 1201 broad.mit.edu 37 16 28489120 28489120 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:28489120G>C uc002dpo.2 - 14 1458 c.1135C>G c.(1135-1137)CTG>GTG p.L379V uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.L301V|CLN3_uc010vcu.1_Missense_Mutation_p.L279V|CLN3_uc002dpn.2_Missense_Mutation_p.L280V|CLN3_uc002dpm.2_Missense_Mutation_p.L325V|CLN3_uc010vcv.1_Missense_Mutation_p.L355V|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.L379V|CLN3_uc002dpt.1_Missense_Mutation_p.L279V|CLN3_uc002dpq.1_Missense_Mutation_p.L331V|CLN3_uc010bye.1_Missense_Mutation_p.L362V|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.L252V|CLN3_uc002dpu.1_Missense_Mutation_p.L277V NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 379 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 CCCTCATACAGAATGATCAGG 0.602 NaN 0 0 0 0.007413 0 19 76 APOB48R 55911 broad.mit.edu 37 16 28507766 28507766 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:28507766G>C uc002dqb.1 + 3 1387 c.1377G>C c.(1375-1377)AAG>AAC p.K459N uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 459 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 TGCGTGGTAAGGAGGCTGAGA 0.642 NaN 0 0 0 0.004672 0 3 23 SALL1 6299 broad.mit.edu 37 16 51173970 51173970 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:51173970C>T uc010vgs.1 - 2 2194 c.2163G>A c.(2161-2163)TTG>TTA p.L721L SALL1_uc010vgr.1_Silent_p.L624L|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 721 C2H2-type 3. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGTGCATTTTCAAGGCGCTCT 0.517 NaN 0 0 0 0.013537 0 13 61 SALL1 6299 broad.mit.edu 37 16 51174338 51174338 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:51174338C>T uc010vgs.1 - 2 1826 c.1795G>A c.(1795-1797)GAG>AAG p.E599K SALL1_uc010vgr.1_Missense_Mutation_p.E502K|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 599 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTGGCTGACTCAGGGCCCCCG 0.602 NaN 0 0 0 0.006214 0 10 50 CNGB1 1258 broad.mit.edu 37 16 58001085 58001085 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:58001085C>G uc002emt.2 - 2 171 c.106G>C c.(106-108)GAG>CAG p.E36Q CNGB1_uc010cdh.2_Missense_Mutation_p.E36Q|CNGB1_uc002emu.2_Missense_Mutation_p.E36Q NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 36 Glu-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GGTTCCACCTCCGCCTCCATC 0.652 NaN 0 0 0 0.020292 0 14 47 VAC14 55697 broad.mit.edu 37 16 70796903 70796903 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:70796903G>A uc002ezm.2 - 11 1444 c.1186C>T c.(1186-1188)CAC>TAC p.H396Y VAC14_uc010cfw.2_Missense_Mutation_p.H162Y|VAC14_uc002ezn.2_Intron|uc002ezp.1_Intron NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 396 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) CCGTCGAGGTGAAGGGTCACT 0.577 NaN 0 0 0 0.001984 0 6 30 FANCA 2175 broad.mit.edu 37 16 89809308 89809308 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:89809308G>A uc002fou.1 - 37 3707 c.3665C>T c.(3664-3666)CCG>CTG p.P1222L FANCA_uc010vpn.1_Missense_Mutation_p.P1222L|FANCA_uc010vpo.1_Missense_Mutation_p.P308L NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1222 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GAGCCAGTCCGGGTTGGGTGC 0.552 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.020292 0 14 31 DBNDD1 79007 broad.mit.edu 37 16 90075252 90075252 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr16:90075252C>G uc002fqf.1 - 3 447 c.259G>C c.(259-261)GAG>CAG p.E87Q DBNDD1_uc002fqe.1_Missense_Mutation_p.E107Q|DBNDD1_uc002fqg.1_RNA NM_001042610 NP_001036075 Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) 87 cytoplasm 0 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) TCGGCCAGCTCCTGGTCCGAC 0.642 NaN 0 0 0 0.004672 0 3 14 P2RX1 5023 broad.mit.edu 37 17 3819557 3819557 + Translation_Start_Site SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:3819557C>T uc002fww.2 - 1 404 c.-37G>A c.(-39--35)CCGTG>CCATG P2RX1_uc010ckm.1_Translation_Start_Site NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GCCCCCTGCACGGCCTCTGCT 0.677 NaN 0 0 0 0.010729 0 12 70 KIF1C 10749 broad.mit.edu 37 17 4905823 4905823 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:4905823C>G uc002gan.1 + 7 820 c.494C>G c.(493-495)TCT>TGT p.S165C NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 165 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 AGTCGGGGTTCTCTGCGGGTC 0.547 NaN 0 0 0 0.01441 0 146 64 TP53 7157 broad.mit.edu 37 17 7574021 7574021 + Nonsense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:7574021C>A uc002gim.2 - 10 1200 c.1006G>T c.(1006-1008)GAG>TAG p.E336* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E204*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E336* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 336 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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) TCGAAGCGCTCACGCCCACGG 0.438 111 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) 1 0 5.61819e-17 0.027356 6.1417e-17 26 12 PIPOX 51268 broad.mit.edu 37 17 27370279 27370279 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:27370279G>A uc002hdr.1 + 1 362 c.36G>A c.(34-36)GTG>GTA p.V12V NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 12 FAD (Potential). tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) ACGCCATTGTGATTGGGGCGG 0.597 NaN 0 0 0 0.024245 0 15 60 TMEM132E 124842 broad.mit.edu 37 17 32955650 32955650 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:32955650C>T uc002hif.2 + 4 1125 c.797C>T c.(796-798)TCG>TTG p.S266L NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 266 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CATGTGACCTCGGAGCTGCTG 0.612 NaN 0 0 0 0.00308 0 7 38 GPR179 440435 broad.mit.edu 37 17 36484690 36484690 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:36484690C>T uc002hpz.2 - 11 4783 c.4762G>A c.(4762-4764)GCC>ACC p.A1588T NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1588 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCTGTTTTGGCAGGTGTTGCT 0.502 NaN 0 0 0 0.01441 0 123 274 EIF1 10209 broad.mit.edu 37 17 39846394 39846394 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:39846394C>T uc002hxj.2 + 3 414 c.250C>T c.(250-252)CAG>TAG p.Q84* JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_RNA NM_005801 NP_005792 P41567 EIF1_HUMAN eukaryotic translation initiation factor 1 84 regulation of translational initiation|response to stress cytoplasm translation initiation factor activity 0 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) AGAAGTAATTCAGCTACAGGG 0.458 NaN 0 0 0 0.007413 0 15 108 HAP1 9001 broad.mit.edu 37 17 39883363 39883363 + Nonsense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:39883363C>A uc002hxm.1 - 10 1477 c.1465G>T c.(1465-1467)GAG>TAG p.E489* JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E437*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E420*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E412* NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 489 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CTGAGCTCCTCAGCCAGCGTC 0.577 NaN 1 0 0.004672 0.004672 0.004741 3 10 GPATCH8 23131 broad.mit.edu 37 17 42475934 42475934 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:42475934C>T uc002igw.1 - 8 3575 c.3511G>A c.(3511-3513)GAG>AAG p.E1171K GPATCH8_uc002igv.1_Missense_Mutation_p.E1093K|GPATCH8_uc010wiz.1_Missense_Mutation_p.E1093K NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1171 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGTTCTTGCTCTTCCCCCCTT 0.517 NaN 0 0 0 0.023175 0 37 194 SP2 6668 broad.mit.edu 37 17 45993797 45993797 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:45993797C>T uc002imk.2 + 3 497 c.360C>T c.(358-360)ATC>ATT p.I120I SP2_uc002iml.2_Silent_p.I113I|uc002imm.2_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 120 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 CCACCATGATCAACAAAGGGA 0.507 NaN 0 0 0 0.012213 0 31 99 TTLL6 284076 broad.mit.edu 37 17 46865191 46865191 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:46865191G>T uc010wlo.1 - 12 1606 c.1571C>A c.(1570-1572)GCT>GAT p.A524D TTLL6_uc002iob.2_Missense_Mutation_p.A217D|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A277D|TTLL6_uc002iod.2_Missense_Mutation_p.A371D NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 476 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 CTCCTCCCGAGCCCTGGAAGC 0.532 NaN 1 0 1.50039e-11 0.012319 1.59665e-11 20 144 ANKFN1 162282 broad.mit.edu 37 17 54450093 54450093 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:54450093G>C uc002iun.1 + 6 732 c.697G>C c.(697-699)GAG>CAG p.E233Q NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 233 Potential. large_intestine(1)|ovary(1) 2 TGCCCAGGTGGAGAATGAAGG 0.512 NaN 0 0 0 0.008361 0 32 130 PRR11 55771 broad.mit.edu 37 17 57262920 57262920 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:57262920G>A uc002ixf.1 + 4 478 c.399G>A c.(397-399)CTG>CTA p.L133L PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 133 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AGGAAGCACTGAAGGTTGGTA 0.224 NaN 0 0 0 0.020292 0 14 65 DHX40 79665 broad.mit.edu 37 17 57684430 57684430 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:57684430G>C uc002ixn.1 + 18 2384 c.2237G>C c.(2236-2238)AGA>ACA p.R746T DHX40_uc010woe.1_Missense_Mutation_p.R669T|DHX40_uc010wof.1_Missense_Mutation_p.R261T NM_024612 NP_078888 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 746 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AAAATGCAAAGAAGAAATGAT 0.388 NaN 0 0 0 0.007413 0 19 79 KCNH6 81033 broad.mit.edu 37 17 61615899 61615899 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:61615899C>G uc002jay.2 + 8 1910 c.1830C>G c.(1828-1830)TTC>TTG p.F610L KCNH6_uc010wpl.1_Missense_Mutation_p.F487L|KCNH6_uc010wpm.1_Missense_Mutation_p.F610L|KCNH6_uc002jaz.1_Missense_Mutation_p.F557L NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 610 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCGTCAAGTTCAAGACCACCC 0.677 NaN 0 0 0 0.006214 0 10 9 STRADA 92335 broad.mit.edu 37 17 61784042 61784042 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:61784042C>T uc002jbm.2 - 10 970 c.811G>A c.(811-813)GAA>AAA p.E271K STRADA_uc002jbn.2_Missense_Mutation_p.E213K|STRADA_uc002jbo.2_Missense_Mutation_p.E234K|STRADA_uc002jbp.2_Missense_Mutation_p.E234K|STRADA_uc002jbq.2_Missense_Mutation_p.E213K|STRADA_uc010wpq.1_Missense_Mutation_p.E227K|STRADA_uc010wpr.1_Missense_Mutation_p.E242K|STRADA_uc010ddw.2_Missense_Mutation_p.E242K|STRADA_uc002jbr.2_Missense_Mutation_p.E210K NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 271 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 TTGGCCAGTTCACAGGCTGTG 0.488 NaN 0 0 0 0.00874 0 39 203 CACNG4 27092 broad.mit.edu 37 17 64961111 64961111 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:64961111C>T uc002jft.1 + 1 99 c.84C>T c.(82-84)ATC>ATT p.I28I NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 28 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CCATCGCCATCGGCACCGACT 0.552 NaN 0 0 0 0.006214 0 8 21 NOL11 25926 broad.mit.edu 37 17 65733721 65733721 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:65733721G>T uc002jgd.1 + 12 1319 c.1316G>T c.(1315-1317)GGA>GTA p.G439V NOL11_uc010wql.1_Missense_Mutation_p.G257V|NOL11_uc010deu.1_Missense_Mutation_p.G34V NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 439 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) ACAGTAACAGGACTTCTGGAA 0.423 NaN 1 0 1.3466e-33 0.01441 1.49588e-33 85 175 BPTF 2186 broad.mit.edu 37 17 65908180 65908180 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr17:65908180G>C uc002jgf.2 + 11 4241 c.4180G>C c.(4180-4182)GAG>CAG p.E1394Q BPTF_uc002jge.2_Missense_Mutation_p.E1520Q NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1520 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGAAAATCGAGAGTCTGAAAA 0.299 NaN 0 0 0 0.014323 0 23 71 METTL4 64863 broad.mit.edu 37 18 2544739 2544739 + Missense_Mutation SNP A A C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:2544739A>C uc002klh.3 - 7 1874 c.1094T>G c.(1093-1095)TTT>TGT p.F365C METTL4_uc010dkj.2_Intron NM_022840 NP_073751 Q8N3J2 METL4_HUMAN methyltransferase like 4 365 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding kidney(1)|skin(1) 2 TGGGAACACAAATTCTCCTGA 0.403 NaN 0 0 0 0.021523 0 22 82 LAMA3 3909 broad.mit.edu 37 18 21485566 21485566 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:21485566G>A uc002kuq.2 + 52 6782 c.6696G>A c.(6694-6696)ATG>ATA p.M2232I LAMA3_uc002kur.2_Missense_Mutation_p.M2176I|LAMA3_uc002kus.3_Missense_Mutation_p.M623I|LAMA3_uc002kut.3_Missense_Mutation_p.M567I NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2232 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGCCAAGATGACACAAAAGA 0.448 NaN 0 0 0 0.010771 0 44 98 CDH2 1000 broad.mit.edu 37 18 25593832 25593832 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:25593832C>G uc002kwg.2 - 3 673 c.214G>C c.(214-216)GAG>CAG p.E72Q CDH2_uc010xbn.1_Missense_Mutation_p.E41Q NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 72 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TCACTGCTCTCATATTGTACT 0.368 NaN 0 0 0 0.00632 0 29 69 PIK3C3 5289 broad.mit.edu 37 18 39584503 39584503 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:39584503G>A uc002lap.2 + 10 1226 c.1168G>A c.(1168-1170)GAG>AAG p.E390K PIK3C3_uc010xcl.1_Missense_Mutation_p.E327K NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 390 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 GGCCGATGATGAGGTGCATTA 0.443 NaN TSP Lung(28;0.18) 0 0 0 0.001984 0 7 32 RNF165 494470 broad.mit.edu 37 18 44030341 44030341 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:44030341C>T uc002lcb.1 + 5 749 c.698C>T c.(697-699)TCC>TTC p.S233F RNF165_uc002lby.1_Missense_Mutation_p.S166F|RNF165_uc010dnn.1_Missense_Mutation_p.S29F NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN ring finger protein 165 233 zinc ion binding 0 READ - Rectum adenocarcinoma(1;0.0873) AGACACACCTCCGCCGTACGG 0.517 NaN 0 0 0 0.008871 0 18 87 WDR7 23335 broad.mit.edu 37 18 54688024 54688024 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:54688024G>A uc002lgk.1 + 27 4424 c.4213G>A c.(4213-4215)GAT>AAT p.D1405N WDR7_uc002lgl.1_Missense_Mutation_p.D1372N NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1405 WD 9. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TTTTGCTCCTGATGGAAGATA 0.408 NaN 0 0 0 0.023175 0 34 143 KCNG2 26251 broad.mit.edu 37 18 77659691 77659691 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr18:77659691G>A uc010xfl.1 + 2 1276 c.1276G>A c.(1276-1278)GAG>AAG p.E426K NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 426 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GGCCAGCCCCGAGCCGGCCCT 0.706 NaN 0 0 0 0.016723 0 10 13 SEMA6B 10501 broad.mit.edu 37 19 4548448 4548448 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:4548448C>G uc010duc.1 - 12 1319 c.1281G>C c.(1279-1281)CTG>CTC p.L427L SEMA6B_uc010dud.2_Silent_p.L427L|SEMA6B_uc010xih.1_Silent_p.L427L NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 427 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCACTCGAGTCAGCTGGTGCC 0.652 NaN 0 0 0 0.008871 0 19 22 C3 718 broad.mit.edu 37 19 6707129 6707129 + Missense_Mutation SNP G G A rs117793540 byFrequency TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:6707129G>A uc002mfm.2 - 17 2265 c.2203C>T c.(2203-2205)CGG>TGG p.R735W NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 735 R -> W (in AHUS5). complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGCTGCCGCCGCAGCTCTGTG 0.687 NaN 0 0 0 0.016723 0 13 33 GPR108 56927 broad.mit.edu 37 19 6731089 6731089 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:6731089C>T uc002mfp.2 - 17 1514 c.1468G>A c.(1468-1470)GTG>ATG p.V490M GPR108_uc010duv.2_Missense_Mutation_p.V41M|GPR108_uc002mfn.2_Missense_Mutation_p.V145M|GPR108_uc002mfo.3_Missense_Mutation_p.V248M|GPR108_uc010duw.2_RNA NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 490 Helical; Name=7; (Potential). integral to membrane 0 CCCGTGAGCACGAAGAAGGCC 0.677 NaN 0 0 0 0.001984 0 7 27 KRI1 65095 broad.mit.edu 37 19 10670351 10670351 + Missense_Mutation SNP C C T rs45518133 byFrequency TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:10670351C>T uc002moy.1 - 11 988 c.979G>A c.(979-981)GTG>ATG p.V327M KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.V323M NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 327 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TTACGGCGCACGGAGGACGCG 0.622 NaN 0 0 0 0.016522 0 24 82 DHPS 1725 broad.mit.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:12792434G>T uc002muh.1 - 1 244 c.147C>A c.(145-147)TTC>TTA p.F49L DHPS_uc002muf.1_5'Flank|DHPS_uc002mug.1_5'Flank|DHPS_uc002mui.1_Missense_Mutation_p.F49L|DHPS_uc002muj.1_Missense_Mutation_p.F49L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA NM_001930 NP_001921 P49366 DHYS_HUMAN deoxyhypusine synthase isoform a 49 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1) 1 Sulfadoxine(DB01299) CGGTGGTGCCGAAGGCCTCCA 0.632 NaN 1 0 6.31663e-08 0.024245 6.5764e-08 14 44 ASNA1 439 broad.mit.edu 37 19 12856314 12856314 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:12856314G>T uc002muv.2 + 3 447 c.433G>T c.(433-435)GCC>TCC p.A145S ASNA1_uc002muw.2_Missense_Mutation_p.A144S NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 145 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) CATCGATGAGGCCATGAGCTA 0.627 NaN 1 0 8.28177e-16 0.007413 8.97192e-16 20 55 BEST2 54831 broad.mit.edu 37 19 12863496 12863496 + Missense_Mutation SNP A A T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:12863496A>T uc002mux.2 + 1 90 c.90A>T c.(88-90)AAA>AAT p.K30N NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 30 Helical; (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 GCATCTACAAACTCCTGTGGC 0.527 NaN 0 0 0 0.007413 0 18 31 C19orf57 79173 broad.mit.edu 37 19 14000730 14000730 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:14000730C>G uc002mxl.1 - 6 998 c.939G>C c.(937-939)CAG>CAC p.Q313H C19orf57_uc002mxk.1_Missense_Mutation_p.Q195H|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 313 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGCTGGGGGTCTGCTGGGGGT 0.657 NaN 0 0 0 0.024245 0 15 21 EPHX3 79852 broad.mit.edu 37 19 15338451 15338451 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:15338451C>G uc002nap.2 - 7 1089 c.880G>C c.(880-882)GAG>CAG p.E294Q EPHX3_uc002naq.2_Missense_Mutation_p.E294Q NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 294 extracellular region hydrolase activity 0 GTGGTCAGCTCCTGGGGTTCC 0.532 NaN 0 0 0 0.001984 0 7 39 IL12RB1 3594 broad.mit.edu 37 19 18174691 18174691 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:18174691C>G uc002nhw.1 - 13 1677 c.1613G>C c.(1612-1614)AGC>ACC p.S538T IL12RB1_uc010xqb.1_Missense_Mutation_p.S538T|IL12RB1_uc002nhx.1_Missense_Mutation_p.S578T NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 538 Extracellular (Potential).|Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 CTCACCGATGCTGAAGCGCTG 0.617 NaN 0 0 0 0.009096 0 3 29 LSM14A 26065 broad.mit.edu 37 19 34685411 34685411 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:34685411G>A uc002nvb.3 + 2 346 c.150G>A c.(148-150)CCG>CCA p.P50P LSM14A_uc002nva.3_Silent_p.P50P|LSM14A_uc010xru.1_Silent_p.P50P NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 50 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) AAGACAGACCGACAGATCGTC 0.423 NaN 0 0 0 0.023175 0 35 197 MLL4 9757 broad.mit.edu 37 19 36212267 36212267 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:36212267C>T uc010eei.2 + 3 2018 c.2018C>T c.(2017-2019)GCT>GTT p.A673V NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 673 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCTTGGGGCTCCTGAAGCC 0.622 NaN 0 0 0 0.014758 0 5 6 ZNF146 7705 broad.mit.edu 37 19 36727428 36727428 + Nonsense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:36727428C>G uc002odq.3 + 4 1609 c.86C>G c.(85-87)TCA>TGA p.S29* ZNF146_uc010eet.2_Nonsense_Mutation_p.S29*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.S29* NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 29 C2H2-type 1. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) AGCCACAAATCAAACCTCACT 0.423 NaN 0 0 0 0.016522 0 23 76 ZNF146 7705 broad.mit.edu 37 19 36728021 36728021 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:36728021C>G uc002odq.3 + 4 2202 c.679C>G c.(679-681)CTC>GTC p.L227V ZNF146_uc010eet.2_Missense_Mutation_p.L227V|ZNF146_uc010eeu.2_Missense_Mutation_p.L227V NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 227 Interaction with TERF2IP.|C2H2-type 8. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) GAGCTCATCTCTCACTGTGCA 0.443 NaN 0 0 0 0.014323 0 21 154 HNRNPUL1 11100 broad.mit.edu 37 19 41770565 41770565 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:41770565G>C uc002oqb.3 + 1 446 c.157G>C c.(157-159)GAA>CAA p.E53Q CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 53 Necessary for interaction with HRMT1L1. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CGCCGACGACGAACCGGGGCG 0.736 NaN 0 0 0 0.004482 0 6 19 LIPE 3991 broad.mit.edu 37 19 42930623 42930623 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:42930623C>T uc002otr.2 - 1 956 c.679G>A c.(679-681)GAG>AAG p.E227K uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 227 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) GTGACCCACTCAGAAAGTGCC 0.493 NaN 0 0 0 0.01441 0 90 71 NLRP4 147945 broad.mit.edu 37 19 56382202 56382202 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr19:56382202C>T uc002qmd.3 + 7 2786 c.2364C>T c.(2362-2364)TTC>TTT p.F788F NLRP4_uc002qmf.2_Silent_p.F713F|NLRP4_uc010etf.2_Silent_p.F563F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 788 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GGTTGGCTTTCTGCCACCTCA 0.483 NaN 0 0 0 0.01441 0 59 48 NOL10 79954 broad.mit.edu 37 2 10799346 10799346 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:10799346C>G uc002raq.2 - 10 833 c.708G>C c.(706-708)TTG>TTC p.L236F NOL10_uc010yje.1_Missense_Mutation_p.L210F|NOL10_uc010yjf.1_Missense_Mutation_p.L186F|NOL10_uc002rap.2_Missense_Mutation_p.L236F|NOL10_uc002rar.2_Missense_Mutation_p.L86F NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 236 WD 3. nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) CATTAAATTTCAAAGCAGAGA 0.373 NaN 0 0 0 0.001984 0 5 17 MYCN 4613 broad.mit.edu 37 2 16082556 16082556 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:16082556G>A uc002rci.2 + 2 670 c.370G>A c.(370-372)GAG>AAG p.E124K MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E116K NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 124 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CTCCGCCCGCGAGAAGCTGGA 0.642 NaN A neuroblastoma 0 0 0 0.006122 0 14 14 HADHA 3030 broad.mit.edu 37 2 26437925 26437925 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:26437925C>G uc002rgy.2 - 8 926 c.796G>C c.(796-798)GAA>CAA p.E266Q HADHA_uc010yks.1_Missense_Mutation_p.E179Q|HADHA_uc010ykt.1_Missense_Mutation_p.E179Q NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 266 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TACTCACTTTCCACCAATCCC 0.358 NaN 0 0 0 0.01441 0 74 146 TMEM214 54867 broad.mit.edu 37 2 27258520 27258520 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:27258520G>A uc002ria.3 + 4 671 c.561G>A c.(559-561)GCG>GCA p.A187A TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Intron NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 187 integral to membrane protein binding 0 GGCTGCTGGCGAAGGCAGCAG 0.562 NaN 0 0 0 0.013114 0 48 98 CAD 790 broad.mit.edu 37 2 27447627 27447627 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:27447627G>A uc002rji.2 + 10 1431 c.1269G>A c.(1267-1269)CTG>CTA p.L423L CAD_uc010eyw.2_Silent_p.L423L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 423 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TTAAGGCCCTGAAGGAGGAAA 0.483 NaN 0 0 0 0.009718 0 43 212 C2orf71 388939 broad.mit.edu 37 2 29297062 29297062 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:29297062C>G uc002rmt.1 - 1 66 c.66G>C c.(64-66)TTG>TTC p.L22F NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 22 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TGGGCTTTTTCAAGAACTGAA 0.493 NaN 0 0 0 0.024245 0 15 100 CLIP4 79745 broad.mit.edu 37 2 29366627 29366627 + Missense_Mutation SNP C C G rs138901368 byFrequency TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:29366627C>G uc002rmv.2 + 7 940 c.701C>G c.(700-702)CCG>CGG p.P234R CLIP4_uc002rmu.2_Missense_Mutation_p.P234R|CLIP4_uc010ezm.1_Missense_Mutation_p.P234R|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.P216R NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 234 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GTAGATATGCCGTTAGAGATG 0.453 NaN 0 0 0 0.009535 0 30 145 CEBPZ 10153 broad.mit.edu 37 2 37450318 37450318 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:37450318G>A uc002rpz.2 - 3 1906 c.1876C>T c.(1876-1878)CAT>TAT p.H626Y NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 626 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TATACCGGATGATCATCTAGT 0.343 NaN 0 0 0 0.01441 0 55 65 PLEK 5341 broad.mit.edu 37 2 68607517 68607517 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:68607517G>C uc002sen.3 + 2 262 c.100G>C c.(100-102)GAA>CAA p.E34Q PLEK_uc010fde.2_Missense_Mutation_p.E34Q NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 34 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGATGGAATTGAATTCTATAA 0.453 NaN 0 0 0 0.01441 0 53 47 C2orf65 130951 broad.mit.edu 37 2 74834257 74834257 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:74834257G>A uc002smy.2 - 4 637 c.520C>T c.(520-522)CAG>TAG p.Q174* C2orf65_uc010ysa.1_Nonsense_Mutation_p.Q174*|C2orf65_uc002smz.2_Nonsense_Mutation_p.Q174* NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 174 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 TCAACGACCTGAAACCTCCTG 0.443 NaN 0 0 0 0.01892 0 24 135 C2orf89 129293 broad.mit.edu 37 2 85066332 85066332 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:85066332C>G uc010ysl.1 - 4 1021 c.932G>C c.(931-933)CGG>CCG p.R311P C2orf89_uc002sou.3_Missense_Mutation_p.R262P|C2orf89_uc002sov.2_RNA|C2orf89_uc010fgc.1_Missense_Mutation_p.R311P NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 311 Extracellular (Potential). integral to membrane ovary(1) 1 GGCCTTCACCCGCTTCCCTAT 0.527 NaN 0 0 0 0.012319 0 20 52 ZNF514 84874 broad.mit.edu 37 2 95815563 95815563 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:95815563G>A uc002sue.1 - 5 1041 c.667C>T c.(667-669)CAG>TAG p.Q223* ZNF514_uc002sud.1_Nonsense_Mutation_p.Q296* NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 223 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGACATCGCTGATGGCGCCTA 0.438 NaN 0 0 0 0.01441 0 48 178 NPAS2 4862 broad.mit.edu 37 2 101584864 101584864 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:101584864C>T uc002tap.1 + 11 1315 c.1029C>T c.(1027-1029)TTC>TTT p.F343F NPAS2_uc010yvt.1_Silent_p.F408F NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 343 PAC. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 AGCCCGAGTTCATCGTGTGCA 0.612 NaN 0 0 0 0.012319 0 19 79 IL18RAP 8807 broad.mit.edu 37 2 103059778 103059778 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:103059778G>A uc002tbx.2 + 8 1399 c.915G>A c.(913-915)GCG>GCA p.A305A IL18RAP_uc010fiz.2_Silent_p.A163A NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 305 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 TACCTGAGGCGAAAAGGTAAG 0.408 NaN 0 0 0 0.010729 0 9 53 EPB41L5 57669 broad.mit.edu 37 2 120833065 120833065 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:120833065C>G uc002tmg.2 + 6 547 c.421C>G c.(421-423)CTT>GTT p.L141V EPB41L5_uc010flk.2_Missense_Mutation_p.L141V|EPB41L5_uc010fll.2_Missense_Mutation_p.L141V|EPB41L5_uc002tmh.3_Missense_Mutation_p.L141V|EPB41L5_uc010flm.2_5'Flank NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 141 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 TTTATTTGTTCTTCAGTTAAA 0.284 NaN 0 0 0 0.020292 0 14 24 WDR33 55339 broad.mit.edu 37 2 128520696 128520696 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:128520696C>G uc002tpg.1 - 7 847 c.664G>C c.(664-666)GAT>CAT p.D222H WDR33_uc002tph.1_Missense_Mutation_p.D222H NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 222 WD 3. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GTGCCGTCATCAGAGCATGTA 0.408 NaN 0 0 0 0.024334 0 25 105 NEB 4703 broad.mit.edu 37 2 152394433 152394433 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:152394433G>A uc010fnx.2 - 112 16143 c.15952C>T c.(15952-15954)CGT>TGT p.R5318C NEB_uc002txr.2_Missense_Mutation_p.R1741C NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5318 Nebulin 145. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCTCTGGACGATCAGGAATG 0.403 NaN 0 0 0 0.008291 0 9 42 ACVR1C 130399 broad.mit.edu 37 2 158397605 158397605 + Missense_Mutation SNP C C G rs149435555 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:158397605C>G uc002tzk.3 - 7 1465 c.1222G>C c.(1222-1224)GGA>CGA p.G408R ACVR1C_uc002tzl.3_Missense_Mutation_p.G328R|ACVR1C_uc010fof.2_Missense_Mutation_p.G251R|ACVR1C_uc010foe.2_Missense_Mutation_p.G358R NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 408 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 ATTTTACCTCCGACTGAACAC 0.373 NaN 0 0 0 0.021022 0 33 181 C2orf77 129881 broad.mit.edu 37 2 170502386 170502386 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:170502386G>A uc002ufe.2 - 9 1718 c.1624C>T c.(1624-1626)CAA>TAA p.Q542* NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 542 0 TTTGACTTTTGAAAATTATAT 0.348 NaN 0 0 0 0.006122 0 19 58 TTN 7273 broad.mit.edu 37 2 179471896 179471896 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:179471896C>T uc010zfg.1 - 227 45953 c.45729G>A c.(45727-45729)TGG>TGA p.W15243* uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W8938*|TTN_uc010zfi.1_Nonsense_Mutation_p.W8871*|TTN_uc010zfj.1_Nonsense_Mutation_p.W8746* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16170 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) TTGGTTGTCTCCAAGTATGCA 0.393 NaN 0 0 0 0.012213 0 32 175 TTN 7273 broad.mit.edu 37 2 179639030 179639030 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:179639030G>C uc010zfg.1 - 30 7185 c.6961C>G c.(6961-6963)CAG>GAG p.Q2321E TTN_uc010zfh.1_Missense_Mutation_p.Q2275E|TTN_uc010zfi.1_Missense_Mutation_p.Q2275E|TTN_uc010zfj.1_Missense_Mutation_p.Q2275E|TTN_uc002unb.2_Missense_Mutation_p.Q2321E|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2321 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) GTGAGGTTCTGACGTCCACGA 0.403 NaN 0 0 0 0.021523 0 24 121 ITGAV 3685 broad.mit.edu 37 2 187514604 187514604 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:187514604C>G uc002upq.2 + 14 1665 c.1389C>G c.(1387-1389)ATC>ATG p.I463M ITGAV_uc010frs.2_Missense_Mutation_p.I427M|ITGAV_uc010zfv.1_Missense_Mutation_p.I417M NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 463 FG-GAP 7.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATCGAGCTATCTTATACAGGT 0.289 NaN 0 0 0 0.001984 0 6 49 ALS2CR8 79800 broad.mit.edu 37 2 203825996 203825996 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:203825996G>C uc002uzo.2 + 8 959 c.679G>C c.(679-681)GAG>CAG p.E227Q ALS2CR8_uc002uzn.2_Missense_Mutation_p.E125Q|ALS2CR8_uc002uzm.2_Missense_Mutation_p.E227Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E139Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E227Q NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 227 large_intestine(1)|ovary(1) 2 CTGTGTAAGTGAGACTGAATT 0.413 NaN 0 0 0 0.016522 0 22 41 ALS2CR8 79800 broad.mit.edu 37 2 203826043 203826043 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:203826043G>A uc002uzo.2 + 8 1006 c.726G>A c.(724-726)CAG>CAA p.Q242Q ALS2CR8_uc002uzn.2_Silent_p.Q140Q|ALS2CR8_uc002uzm.2_Silent_p.Q242Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Silent_p.Q166Q|ALS2CR8_uc010zib.1_Silent_p.Q166Q|ALS2CR8_uc010zic.1_Silent_p.Q154Q|ALS2CR8_uc002uzp.2_Silent_p.Q242Q NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 242 large_intestine(1)|ovary(1) 2 AGCAAACACAGAGTGTTTGGG 0.448 NaN 0 0 0 0.010504 0 20 41 NDUFS1 4719 broad.mit.edu 37 2 207009731 207009731 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:207009731C>T uc002vbe.2 - 9 884 c.757G>A c.(757-759)GTA>ATA p.V253I NDUFS1_uc010ziq.1_Missense_Mutation_p.V267I|NDUFS1_uc010zir.1_Missense_Mutation_p.V217I|NDUFS1_uc010zis.1_Missense_Mutation_p.V196I|NDUFS1_uc010zit.1_Missense_Mutation_p.V142I|NDUFS1_uc010ziu.1_Missense_Mutation_p.V137I NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 253 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GCATCCATTACATCAATGGAT 0.378 NaN 0 0 0 0.020292 0 14 73 AAMP 14 broad.mit.edu 37 2 219129789 219129789 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:219129789C>G uc002vhk.2 - 10 1267 c.1183G>C c.(1183-1185)GAC>CAC p.D395H AAMP_uc002vhj.2_Missense_Mutation_p.D376H|AAMP_uc010fvo.2_Missense_Mutation_p.D395H|AAMP_uc002vhl.2_Missense_Mutation_p.D396H NM_001087 NP_001078 Q13685 AAMP_HUMAN angio-associated, migratory cell protein 395 WD 7. angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCCGGTAGTCAGTAAGCAGG 0.607 NaN 0 0 0 0.010818 0 33 156 PNKD 25953 broad.mit.edu 37 2 219209680 219209680 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:219209680G>A uc002vhn.2 + 10 1278 c.1134G>A c.(1132-1134)CTG>CTA p.L378L PNKD_uc002vhq.2_Silent_p.L354L NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 378 Substrate (By similarity). membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCGCCGGCTGAAGGATATGC 0.682 NaN 0 0 0 0.020292 0 14 42 STK36 27148 broad.mit.edu 37 2 219544683 219544683 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:219544683C>A uc002viu.2 + 9 1282 c.1016C>A c.(1015-1017)GCC>GAC p.A339D STK36_uc002viv.2_Missense_Mutation_p.A339D NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 339 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCTGGCACAGCCCCTCTGCCC 0.577 NaN 1 0 3.99206e-14 0.007413 4.2957e-14 20 103 CYP27A1 1593 broad.mit.edu 37 2 219679343 219679343 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:219679343C>T uc002viz.3 + 8 1773 c.1339C>T c.(1339-1341)CAC>TAC p.H447Y NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 447 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CTTCCAGCCCCACCGCTGGCT 0.607 NaN 0 0 0 0.010729 0 10 65 SCG2 7857 broad.mit.edu 37 2 224463499 224463499 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:224463499G>A uc002vnm.2 - 2 635 c.502C>T c.(502-504)CCT>TCT p.P168S NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 168 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCATACATAGGAGGGAATTGC 0.403 NaN 0 0 0 0.017118 0 36 165 TRIP12 9320 broad.mit.edu 37 2 230656630 230656630 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:230656630C>A uc002vpw.1 - 28 4251 c.4142G>T c.(4141-4143)AGC>ATC p.S1381I TRIP12_uc002vpx.1_Missense_Mutation_p.S1429I|TRIP12_uc002vpy.1_Missense_Mutation_p.S1111I NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1381 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TAGAGGATTGCTCTCATCATC 0.383 NaN 1 0 6.21074e-16 0.011902 6.75875e-16 39 218 NCL 4691 broad.mit.edu 37 2 232326368 232326368 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:232326368C>T uc002vru.2 - 3 637 c.496G>A c.(496-498)GAT>AAT p.D166N SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 166 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) tcatcttcatcctcatcctcg 0.239 NaN 0 0 0 0.007413 0 20 24 IQCA1 79781 broad.mit.edu 37 2 237396819 237396819 + Missense_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:237396819T>C uc002vvz.1 - 4 654 c.472A>G c.(472-474)AGT>GGT p.S158G IQCA1_uc002vwb.2_Missense_Mutation_p.S165G|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.S158G NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 158 ATP binding ovary(1) 1 AAAGGGATACTCTTTACAGGG 0.398 NaN 0 0 0 0.014758 0 5 20 RBM44 375316 broad.mit.edu 37 2 238726129 238726129 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:238726129C>T uc002vxi.3 + 3 702 c.570C>T c.(568-570)CAC>CAT p.H190H NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 189 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGGAATATCACAGTGCAGAAG 0.333 NaN 0 0 0 0.004482 0 8 26 PER2 8864 broad.mit.edu 37 2 239167208 239167208 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:239167208C>T uc002vyc.2 - 15 1942 c.1705G>A c.(1705-1707)GAG>AAG p.E569K PER2_uc010znv.1_Missense_Mutation_p.E569K NM_022817 NP_073728 O15055 PER2_HUMAN period 2 569 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCCAACTCCTCGGGGAAGCTG 0.552 NaN 0 0 0 0.008291 0 11 47 TGM3 7053 broad.mit.edu 37 20 2320505 2320505 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:2320505G>A uc002wfx.3 + 12 1903 c.1806G>A c.(1804-1806)CTG>CTA p.L602L NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 602 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) CATAGGTGCTGAACGAGGCTC 0.637 NaN 0 0 0 0.00308 0 6 17 FAM113A 64773 broad.mit.edu 37 20 2819730 2819730 + Splice_Site SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:2819730T>C uc002wgz.1 - 4 702 c.205_splice c.e4-1 p.G69_splice FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Splice_Site|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Intron|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 hydrolase activity|protein binding ovary(2) 2 CAGCTCCCCCTACCCACCCCC 0.652 NaN 0 0 0 0.009096 0 3 19 TRMT6 51605 broad.mit.edu 37 20 5923084 5923084 + Missense_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:5923084T>C uc002wmh.1 - 7 1138 c.1016A>G c.(1015-1017)AAA>AGA p.K339R TRMT6_uc010zra.1_Missense_Mutation_p.K169R|TRMT6_uc010gbn.1_Missense_Mutation_p.K169R|TRMT6_uc010gbo.1_RNA NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 339 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 ATAATCTTTTTTGCTTCCTCT 0.453 NaN 0 0 0 0.01441 0 78 50 RRBP1 6238 broad.mit.edu 37 20 17599273 17599273 + Missense_Mutation SNP C C T rs149077359 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:17599273C>T uc002wpv.1 - 21 2782 c.2428G>A c.(2428-2430)GAA>AAA p.E810K RRBP1_uc010zrp.1_5'UTR|RRBP1_uc002wpt.1_Missense_Mutation_p.E180K|RRBP1_uc002wpu.2_Missense_Mutation_p.E584K|RRBP1_uc002wpw.1_Missense_Mutation_p.E810K|RRBP1_uc010gcl.1_Missense_Mutation_p.E584K NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1243 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 TTCTGGGCTTCGCTCTTGGCG 0.552 NaN 0 0 0 0.016522 0 22 50 SLC24A3 57419 broad.mit.edu 37 20 19566112 19566112 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:19566112G>C uc002wrl.2 + 6 733 c.536G>C c.(535-537)GGA>GCA p.G179A NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 179 Extracellular (Potential).|Alpha-1. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GGCGATGTGGGAGTTGGCACC 0.547 NaN 0 0 0 0.011902 0 42 154 C20orf185 359710 broad.mit.edu 37 20 31654681 31654681 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:31654681G>A uc002wym.1 + 9 976 c.976G>A c.(976-978)GAG>AAG p.E326K NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 326 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 TTTGCTCCCTGAGGTGAGTGA 0.358 NaN 0 0 0 0.008361 0 29 93 TOP1 7150 broad.mit.edu 37 20 39741425 39741425 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:39741425G>A uc002xjl.2 + 14 1558 c.1312G>A c.(1312-1314)GAG>AAG p.E438K uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 438 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TTTACAGGGTGAGAAGGACTG 0.373 NaN T NUP98 AML* 0 0 0 0.00308 0 8 53 NCOA5 57727 broad.mit.edu 37 20 44692158 44692158 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:44692158C>T uc002xrd.2 - 6 1519 c.991G>A c.(991-993)GAG>AAG p.E331K NCOA5_uc002xrc.2_Missense_Mutation_p.E219K|NCOA5_uc002xre.2_Missense_Mutation_p.E331K NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) ACTCCCTCCTCAGGGCCTCCT 0.577 NaN 0 0 0 0.001984 0 7 63 ZNFX1 57169 broad.mit.edu 37 20 47887564 47887564 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:47887564G>C uc002xui.2 - 3 1032 c.785C>G c.(784-786)TCT>TGT p.S262C NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 262 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCCTGCACAGAGCTGGCAGG 0.507 NaN 0 0 0 0.021523 0 26 107 ZNF831 128611 broad.mit.edu 37 20 57828035 57828035 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:57828035C>G uc002yan.2 + 4 4030 c.4030C>G c.(4030-4032)CTG>GTG p.L1344V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1344 intracellular nucleic acid binding|zinc ion binding p.L1344L(1) skin(13)|ovary(1) 14 all_lung(29;0.0085) CCTTGCAGGTCTGAATCTGCA 0.458 NaN 0 0 0 0.01892 0 25 57 ZNF831 128611 broad.mit.edu 37 20 57829687 57829687 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:57829687C>T uc002yan.2 + 5 4923 c.4923C>T c.(4921-4923)GCC>GCT p.A1641A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1641 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TTCCTGAAGCCCCTTCTAAAT 0.463 NaN 0 0 0 0.01441 0 48 88 LSM14B 149986 broad.mit.edu 37 20 60704841 60704841 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:60704841G>A uc010gjy.1 + 4 634 c.428G>A c.(427-429)GGA>GAA p.G143E LSM14B_uc010gjx.1_Missense_Mutation_p.G169E|LSM14B_uc002ybv.2_Missense_Mutation_p.G143E|LSM14B_uc010gjz.1_Missense_Mutation_p.G99E|LSM14B_uc010zzz.1_Missense_Mutation_p.G63E NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 143 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTCAATTCAGGAGCTGGTTTT 0.498 NaN 0 0 0 0.014758 0 5 6 LAMA5 3911 broad.mit.edu 37 20 60908513 60908513 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr20:60908513C>T uc002ycq.2 - 25 3113 c.3046G>A c.(3046-3048)GCA>ACA p.A1016T NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1016 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGTAGTATGCGCTAGGCAGC 0.682 NaN 0 0 0 0.014758 0 5 29 TIAM1 7074 broad.mit.edu 37 21 32559388 32559388 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:32559388G>A uc002yow.1 - 15 3063 c.2591C>T c.(2590-2592)TCT>TTT p.S864F TIAM1_uc011adk.1_Missense_Mutation_p.S864F|TIAM1_uc011adl.1_Missense_Mutation_p.S804F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 864 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TTCTTCCACAGAAGAAAGTGA 0.458 NaN 0 0 0 0.01441 0 44 334 HUNK 30811 broad.mit.edu 37 21 33296930 33296930 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:33296930C>T uc002yph.2 + 2 772 c.412C>T c.(412-414)CTG>TTG p.L138L NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 138 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CAGCTACTACCTGGTCATGGA 0.532 NaN 0 0 0 0.011902 0 42 150 MORC3 23515 broad.mit.edu 37 21 37741729 37741729 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:37741729C>T uc002yvi.2 + 15 2139 c.2063C>T c.(2062-2064)TCT>TTT p.S688F NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 688 Potential. cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 ACCGATAAATCTGCAGATGAT 0.413 NaN 0 0 0 0.01441 0 48 37 TTC3 7267 broad.mit.edu 37 21 38461129 38461129 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:38461129G>T uc002yvz.2 + 5 474 c.369G>T c.(367-369)AAG>AAT p.K123N TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.K123N|TTC3_uc002ywb.2_Missense_Mutation_p.K123N|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.K123N NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 123 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TAAATTTGAAGAAACTACAAC 0.323 NaN 1 0 3.45872e-05 0.004007 3.53215e-05 15 62 RIPK4 54101 broad.mit.edu 37 21 43161677 43161677 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:43161677C>T uc002yzn.1 - 8 1724 c.1676G>A c.(1675-1677)CGA>CAA p.R559Q NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 559 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GTCCACGCCTCGGCGCAGCAG 0.662 NaN 0 0 0 0.006214 0 10 95 TRPM2 7226 broad.mit.edu 37 21 45837924 45837924 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:45837924C>T uc002zet.1 + 22 3474 c.3261C>T c.(3259-3261)CTC>CTT p.L1087L TRPM2_uc002zeu.1_Silent_p.L1087L|TRPM2_uc002zew.1_Silent_p.L1087L|TRPM2_uc010gpt.1_Silent_p.L1087L|TRPM2_uc002zex.1_Silent_p.L873L|TRPM2_uc002zey.1_Silent_p.L600L|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1087 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCATCCTCCTCAGCCACCTGC 0.502 NaN 0 0 0 0.01892 0 22 234 TRPM2 7226 broad.mit.edu 37 21 45837945 45837945 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:45837945C>G uc002zet.1 + 22 3495 c.3282C>G c.(3280-3282)ATC>ATG p.I1094M TRPM2_uc002zeu.1_Missense_Mutation_p.I1094M|TRPM2_uc002zew.1_Missense_Mutation_p.I1094M|TRPM2_uc010gpt.1_Missense_Mutation_p.I1094M|TRPM2_uc002zex.1_Missense_Mutation_p.I880M|TRPM2_uc002zey.1_Missense_Mutation_p.I607M|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1094 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGCTCTTCATCAAGAGGGTGG 0.512 NaN 0 0 0 0.024334 0 23 226 COL18A1 80781 broad.mit.edu 37 21 46911162 46911162 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr21:46911162C>T uc011afs.1 + 21 3357 c.3336C>T c.(3334-3336)GTC>GTT p.V1112V COL18A1_uc002zhg.2_Silent_p.V697V|COL18A1_uc002zhi.2_Silent_p.V877V NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1112 Triple-helical region 4 (COL4). V -> L (in Ref. 5; AAA51864). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGGACGGAGTCGGGCAGCCGG 0.682 NaN 0 0 0 0.001984 0 5 87 CHEK2 11200 broad.mit.edu 37 22 29091828 29091828 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:29091828C>T uc003adu.1 - 11 1201 c.1129G>A c.(1129-1131)GAG>AAG p.E377K CHEK2_uc003ads.1_Missense_Mutation_p.E156K|CHEK2_uc010gvh.1_Missense_Mutation_p.E286K|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.E420K|CHEK2_uc003adv.1_Missense_Mutation_p.E348K|CHEK2_uc003adw.1_Missense_Mutation_p.E377K|CHEK2_uc003adx.1_Missense_Mutation_p.E156K|CHEK2_uc003ady.1_Missense_Mutation_p.E377K|CHEK2_uc003adz.1_Missense_Mutation_p.E181K NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 377 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AGAGAGGTCTCTCCCAAAATC 0.423 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.016522 0 22 74 CHEK2 11200 broad.mit.edu 37 22 29092917 29092917 + Nonsense_Mutation SNP G G T rs121908703 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:29092917G>T uc003adu.1 - 10 1139 c.1067C>A c.(1066-1068)TCA>TAA p.S356* CHEK2_uc003ads.1_Nonsense_Mutation_p.S135*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.S265*|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Nonsense_Mutation_p.S399*|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adx.1_Nonsense_Mutation_p.S135*|CHEK2_uc003ady.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adz.1_Nonsense_Mutation_p.S160* NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 356 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TTCTTGAGATGACAGTAAAAC 0.378 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 1 0 1.36491e-13 0.016723 1.46545e-13 14 38 CHEK2 11200 broad.mit.edu 37 22 29092969 29092969 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:29092969G>A uc003adu.1 - 10 1087 c.1015C>T c.(1015-1017)CAT>TAT p.H339Y CHEK2_uc003ads.1_Missense_Mutation_p.H118Y|CHEK2_uc010gvh.1_Missense_Mutation_p.H248Y|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.H382Y|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Missense_Mutation_p.H339Y|CHEK2_uc003adx.1_Missense_Mutation_p.H118Y|CHEK2_uc003ady.1_Missense_Mutation_p.H339Y|CHEK2_uc003adz.1_Missense_Mutation_p.H143Y NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 339 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCGTTTTCATGAAGGTACTAC 0.398 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.024245 0 12 33 THOC5 8563 broad.mit.edu 37 22 29940524 29940524 + Nonsense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:29940524G>C uc003afr.2 - 4 500 c.165C>G c.(163-165)TAC>TAG p.Y55* THOC5_uc003afs.2_Nonsense_Mutation_p.Y55*|THOC5_uc003aft.2_Nonsense_Mutation_p.Y55*|THOC5_uc003afu.2_Nonsense_Mutation_p.Y55*|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Nonsense_Mutation_p.Y55*|THOC5_uc003afw.1_5'Flank NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 55 Interaction with THOC7.|Interaction with CSF1R (By similarity). intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 AGGTGTACTTGTATAACTCAT 0.542 NaN 0 0 0 0.027356 0 29 113 GAL3ST1 9514 broad.mit.edu 37 22 30951254 30951254 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:30951254C>G uc003aig.1 - 4 1098 c.958G>C c.(958-960)GAG>CAG p.E320Q GAL3ST1_uc003aih.1_Missense_Mutation_p.E320Q|GAL3ST1_uc003aii.1_Missense_Mutation_p.E320Q|GAL3ST1_uc010gvz.1_Missense_Mutation_p.E320Q NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 320 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CCGAAGGCCTCCACCTTGCGC 0.711 NaN 0 0 0 0.00308 0 8 13 MYH9 4627 broad.mit.edu 37 22 36695011 36695011 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:36695011G>A uc003apg.2 - 24 3285 c.3054C>T c.(3052-3054)CTC>CTT p.L1018L NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1018 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGAGCTTGGCGAGGCTCTTAG 0.562 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.012319 0 22 57 MFNG 4242 broad.mit.edu 37 22 37868558 37868558 + Silent SNP G G A rs11548403 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr22:37868558G>A uc003ass.1 - 7 992 c.822C>T c.(820-822)CTC>CTT p.L274L MFNG_uc011ani.1_Silent_p.L152L|MFNG_uc011anj.1_Silent_p.L260L|MFNG_uc003asr.1_RNA NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 274 Lumenal (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) CACCGTAGCTGAGGGTGACCT 0.602 NaN OREG0026538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 29 119 KCNH8 131096 broad.mit.edu 37 3 19479720 19479720 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:19479720C>T uc003cbk.1 + 8 1437 c.1242C>T c.(1240-1242)GGC>GGT p.G414G KCNH8_uc011awe.1_Silent_p.G414G|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.G45G NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 414 Extracellular (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CCTTGGGGGGCCCGTCGATCC 0.488 NaN 0 0 0 0.01441 0 55 486 GPD1L 23171 broad.mit.edu 37 3 32188164 32188164 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:32188164C>G uc003cew.2 + 5 616 c.556C>G c.(556-558)CCA>GCA p.P186A NM_015141 NP_055956 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 186 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity 0 TCTGCAGACTCCAAATTTTCG 0.433 NaN 0 0 0 0.01441 0 99 306 SCN5A 6331 broad.mit.edu 37 3 38601887 38601887 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:38601887C>T uc003cio.2 - 23 4190 c.3996G>A c.(3994-3996)CCG>CCA p.P1332P SCN5A_uc003cin.2_Silent_p.P1331P|SCN5A_uc003cil.3_Silent_p.P1332P|SCN5A_uc010hhi.2_Silent_p.P1332P|SCN5A_uc010hhk.2_Silent_p.P1331P|SCN5A_uc011ayr.1_Silent_p.P1278P|SCN5A_uc010hhj.1_Silent_p.P942P NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1332 P -> L (in LQT3). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCATGATGGACGGGATGGCGC 0.582 NaN 0 0 0 0.012319 0 17 44 SCN5A 6331 broad.mit.edu 37 3 38616877 38616877 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:38616877G>A uc003cio.2 - 20 3771 c.3577C>T c.(3577-3579)CGG>TGG p.R1193W SCN5A_uc003cin.2_Missense_Mutation_p.R1192W|SCN5A_uc003cil.3_Missense_Mutation_p.R1193W|SCN5A_uc010hhi.2_Missense_Mutation_p.R1193W|SCN5A_uc010hhk.2_Missense_Mutation_p.R1192W|SCN5A_uc011ayr.1_Missense_Mutation_p.R1139W|SCN5A_uc010hhj.1_Missense_Mutation_p.R803W NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1193 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.R1193W(1) ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTGCGCAACCGCCACCAGACC 0.612 NaN 0 0 0 0.001984 0 7 7 ZBTB47 92999 broad.mit.edu 37 3 42702987 42702987 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:42702987G>A uc003clu.1 + 2 458 c.356G>A c.(355-357)TGT>TAT p.C119Y NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN zinc finger protein 651 119 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.216) TGTGTGACATGTGGCAAAGCT 0.413 NaN 0 0 0 0.021022 0 31 49 DHX30 22907 broad.mit.edu 37 3 47887699 47887699 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:47887699G>C uc003cru.2 + 11 1563 c.1137G>C c.(1135-1137)CAG>CAC p.Q379H DHX30_uc003crt.2_Missense_Mutation_p.Q340H NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 379 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCCGGCTGCAGAGTGATGACA 0.542 NaN 0 0 0 0.01441 0 63 122 MAP4 4134 broad.mit.edu 37 3 47956392 47956392 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:47956392C>G uc003csb.2 - 8 2440 c.1914G>C c.(1912-1914)CCG>CCC p.P638P MAP4_uc003csc.3_Silent_p.P638P|MAP4_uc011bbf.1_Silent_p.P615P|MAP4_uc003csf.3_Silent_p.P655P NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 638 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTCCTCGGCCGGCAAGCTGC 0.443 NaN 0 0 0 0.01441 0 71 135 RNF123 63891 broad.mit.edu 37 3 49742439 49742439 + Missense_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:49742439T>C uc003cxh.2 + 23 2068 c.1982T>C c.(1981-1983)GTT>GCT p.V661A RNF123_uc010hky.1_Missense_Mutation_p.V323A|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 661 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCCCTGGCTGTTGGGGGGCCA 0.677 NaN 0 0 0 0.004482 0 7 5 BAP1 8314 broad.mit.edu 37 3 52436887 52436887 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:52436887C>G uc003ddx.2 - 15 2006 c.1891G>C c.(1891-1893)GAG>CAG p.E631Q BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 631 Potential.|Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E631_A634del(1)|p.E631fs*3(1) pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GCCAGCAGCTCCTGCCAAAAC 0.567 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.006122 0 18 84 SFMBT1 51460 broad.mit.edu 37 3 52939153 52939153 + Nonstop_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:52939153C>G uc003dgf.2 - 22 3169 c.2600G>C c.(2599-2601)TGA>TCA p.*867S SFMBT1_uc010hmr.2_Nonstop_Mutation_p.*771S|SFMBT1_uc003dgg.2_Nonstop_Mutation_p.*867S|SFMBT1_uc003dgh.2_Nonstop_Mutation_p.*867S NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 867 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TTGTCCTTCTCAGTTGGCAAA 0.453 NaN 0 0 0 0.01441 0 59 39 EPHA6 285220 broad.mit.edu 37 3 96706766 96706766 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:96706766G>A uc010how.1 + 3 1086 c.1043G>A c.(1042-1044)GGA>GAA p.G348E EPHA6_uc003drp.1_Missense_Mutation_p.G348E NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 253 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 GGAGCTGATGGAGATTGGCTG 0.428 NaN 0 0 0 0.01441 0 75 69 MORC1 27136 broad.mit.edu 37 3 108782032 108782032 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:108782032C>T uc003dxl.2 - 10 949 c.862G>A c.(862-864)GAA>AAA p.E288K MORC1_uc011bhn.1_Missense_Mutation_p.E288K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 288 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTTTTAACTTCATCTTTAAAT 0.254 NaN 0 0 0 0.007413 0 16 109 GSK3B 2932 broad.mit.edu 37 3 119562103 119562103 + Silent SNP T T A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:119562103T>A uc003edo.2 - 10 2177 c.1194A>T c.(1192-1194)TCA>TCT p.S398S GSK3B_uc003edn.2_Silent_p.S411S|GSK3B_uc003edm.2_Intron NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 398 axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CGTTCTTACCTGACGCTGCTG 0.318 NaN 0 0 0 0.008361 0 29 63 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.007413 0 7 20 EEFSEC 60678 broad.mit.edu 37 3 127981020 127981020 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:127981020G>A uc003eki.2 + 3 612 c.574G>A c.(574-576)GAG>AAG p.E192K EEFSEC_uc003ekj.2_Missense_Mutation_p.E192K NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 192 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 GGGGGGACCAGAGGCCCCCGA 0.557 NaN 0 0 0 0.012319 0 20 162 H1FX 8971 broad.mit.edu 37 3 129034635 129034635 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:129034635C>G uc003elx.2 - 1 486 c.111G>C c.(109-111)AAG>AAC p.K37N C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 37 nucleosome assembly nucleosome|nucleus DNA binding 0 TCTTGCTATTCTTCCTCTTCT 0.622 NaN 0 0 0 0.004672 0 3 9 ARMC8 25852 broad.mit.edu 37 3 137964026 137964026 + Splice_Site SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:137964026G>A uc003esa.1 + 13 1459 c.1092_splice c.e13+1 p.K364_splice ARMC8_uc003erw.2_Missense_Mutation_p.V365M|ARMC8_uc003erx.2_Missense_Mutation_p.V365M|ARMC8_uc003ery.2_Missense_Mutation_p.V337M|ARMC8_uc003erz.2_Missense_Mutation_p.V337M|ARMC8_uc011bmf.1_Splice_Site_p.K347_splice|ARMC8_uc011bmg.1_Splice_Site_p.K311_splice|ARMC8_uc011bmh.1_Splice_Site_p.K305_splice|ARMC8_uc003esb.1_Splice_Site_p.K336_splice|ARMC8_uc003esc.1_Splice_Site_p.K136_splice NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 binding 0 CCGGAAGAAGGTGAGTCTGGG 0.517 NaN 0 0 0 0.021523 0 23 74 MED12L 116931 broad.mit.edu 37 3 151112625 151112625 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:151112625C>T uc003eyp.2 + 37 5723 c.5685C>T c.(5683-5685)CTC>CTT p.L1895L MED12L_uc011bnz.1_Silent_p.L1755L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1895 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCGACTTCTCAGGCAAGCCC 0.522 NaN 0 0 0 0.01441 0 50 62 SMC4 10051 broad.mit.edu 37 3 160141236 160141236 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:160141236G>A uc003fdh.2 + 14 2156 c.2043G>A c.(2041-2043)ATG>ATA p.M681I IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M445I|SMC4_uc003fdi.2_Missense_Mutation_p.M656I|SMC4_uc003fdj.2_Missense_Mutation_p.M681I|SMC4_uc010hwd.2_Missense_Mutation_p.M681I|SMC4_uc003fdl.2_Missense_Mutation_p.M384I NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 681 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CGAAAAAGATGACCGAAATTC 0.269 NaN 0 0 0 0.01441 0 73 116 MUC4 4585 broad.mit.edu 37 3 195518308 195518308 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:195518308C>G uc011bto.1 - 2 603 c.143G>C c.(142-144)GGC>GCC p.G48A MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 48 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTTGTTGAGCCTGTTGAGGT 0.403 NaN 0 0 0 0.01441 0 49 258 SENP5 205564 broad.mit.edu 37 3 196613274 196613274 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr3:196613274G>A uc003fwz.3 + 2 1471 c.1222G>A c.(1222-1224)GAT>AAT p.D408N SENP5_uc011bty.1_Missense_Mutation_p.D408N NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 408 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TTCTGTCAGTGATGACAGAGT 0.423 NaN 0 0 0 0.00632 0 27 107 WHSC1 7468 broad.mit.edu 37 4 1902964 1902964 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:1902964C>G uc003gdz.3 + 2 759 c.583C>G c.(583-585)CCT>GCT p.P195A WHSC1_uc003geb.3_Missense_Mutation_p.P195A|WHSC1_uc003gec.3_Missense_Mutation_p.P195A|WHSC1_uc003ged.3_Missense_Mutation_p.P195A|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P195A|WHSC1_uc003gdy.1_Missense_Mutation_p.P195A|WHSC1_uc010icd.1_Missense_Mutation_p.P195A|WHSC1_uc003gea.1_Missense_Mutation_p.P195A|WHSC1_uc010ice.1_Missense_Mutation_p.P195A|WHSC1_uc003geg.1_Missense_Mutation_p.P195A|WHSC1_uc003geh.1_Missense_Mutation_p.P195A NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 195 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GATCTCAAGTCCTTCAGATAA 0.493 NaN T IGH@ MM 0 0 0 0.006214 0 8 62 MXD4 10608 broad.mit.edu 37 4 2254191 2254191 + Missense_Mutation SNP C C T rs141784187 by1000genomes TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:2254191C>T uc003geu.1 - 4 285 c.253G>A c.(253-255)GAC>AAC p.D85N NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 85 Helix-loop-helix motif. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 CGGGTGCTGTCGGGGCCCAGG 0.632 NaN 0 0 0 0.006214 0 9 40 HTT 3064 broad.mit.edu 37 4 3237489 3237489 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:3237489C>T uc011bvq.1 + 64 8920 c.8775C>T c.(8773-8775)CTC>CTT p.L2925L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2923 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCCTGATGCTCACCTGCATGT 0.607 NaN 0 0 0 0.001984 0 7 22 D4S234E 27065 broad.mit.edu 37 4 4419001 4419001 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:4419001G>A uc011bvz.1 + 8 1678 c.397G>A c.(397-399)GCG>ACG p.A133T D4S234E_uc011bwa.1_Missense_Mutation_p.A94T|D4S234E_uc003ghz.2_Missense_Mutation_p.A133T|D4S234E_uc003gia.2_Missense_Mutation_p.A133T|D4S234E_uc003gib.2_Missense_Mutation_p.A133T NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 133 Lumenal (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) GAGCTACTACGCGGAGCAAGA 0.567 NaN 0 0 0 0.007413 0 20 108 TBC1D1 23216 broad.mit.edu 37 4 37903928 37903928 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:37903928C>T uc003gtb.2 + 2 555 c.212C>T c.(211-213)TCT>TTT p.S71F TBC1D1_uc011byd.1_Missense_Mutation_p.S71F|TBC1D1_uc010ifd.2_Missense_Mutation_p.S71F NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 71 nucleus Rab GTPase activator activity ovary(1) 1 GTTTCACCCTCTGGACTGAGA 0.547 NaN 0 0 0 0.01892 0 24 128 N4BP2 55728 broad.mit.edu 37 4 40123292 40123292 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:40123292C>T uc003guy.3 + 9 3899 c.3561C>T c.(3559-3561)AAC>AAT p.N1187N N4BP2_uc010ifq.2_Silent_p.N1107N|N4BP2_uc010ifr.2_Silent_p.N1107N NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1187 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GTATTAGTAACGCTGACTCAC 0.413 NaN 0 0 0 0.01441 0 61 101 TMPRSS11B 132724 broad.mit.edu 37 4 69101948 69101948 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:69101948G>A uc003hdw.3 - 3 297 c.161C>T c.(160-162)TCT>TTT p.S54F NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 54 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGTGACTCCAGAAATATGAAA 0.303 NaN 0 0 0 0.001984 0 6 27 DCK 1633 broad.mit.edu 37 4 71888182 71888182 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:71888182C>T uc003hfx.2 + 3 594 c.306C>T c.(304-306)CTC>CTT p.L102L DCK_uc011cbb.1_Silent_p.L30L NM_000788 NP_000779 P27707 DCK_HUMAN deoxycytidine kinase 102 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity ovary(1) 1 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) ATGCCTGTCTCAGTCGAATAA 0.403 NaN 0 0 0 0.016522 0 24 102 WDFY3 23001 broad.mit.edu 37 4 85742700 85742700 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:85742700G>A uc003hpd.2 - 11 1536 c.1128C>T c.(1126-1128)CAC>CAT p.H376H WDFY3_uc003hpf.2_Silent_p.H376H NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 376 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.H376Y(1) ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCTCACACTGTGACCTAGAA 0.338 NaN 0 0 0 0.01892 0 24 101 IBSP 3381 broad.mit.edu 37 4 88732815 88732815 + Missense_Mutation SNP A A C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:88732815A>C uc003hqx.3 + 7 805 c.707A>C c.(706-708)GAA>GCA p.E236A NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 236 biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GGTGGGTTTGAACCTACAACC 0.527 NaN 0 0 0 0.006214 0 9 41 ADH6 130 broad.mit.edu 37 4 100130048 100130048 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:100130048C>G uc003hup.3 - 6 699 c.605G>C c.(604-606)GGA>GCA p.G202A uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.G202A|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.G202A NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 202 NAD (By similarity). ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) GCCGACTCCTCCCAGGCCAAA 0.458 NaN 0 0 0 0.01441 0 53 253 TET2 54790 broad.mit.edu 37 4 106155204 106155204 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:106155204G>A uc003hxk.2 + 3 491 c.105G>A c.(103-105)CAG>CAA p.Q35Q TET2_uc011cez.1_Silent_p.Q56Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q35Q|TET2_uc003hxi.1_Silent_p.Q35Q NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 35 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CAAAGCTCCAGAATGGAAGCC 0.463 NaN Mis N|F MDS 0 0 0 0.020292 0 15 43 TIGD4 201798 broad.mit.edu 37 4 153690793 153690793 + Missense_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:153690793T>C uc003imy.2 - 2 2146 c.1364A>G c.(1363-1365)GAT>GGT p.D455G NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 455 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) ATCCTCTTCATCAGAAGTGTA 0.398 NaN 0 0 0 0.007413 0 19 52 WDR17 116966 broad.mit.edu 37 4 177058703 177058703 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:177058703C>T uc003iuj.2 + 10 1528 c.1372C>T c.(1372-1374)CGA>TGA p.R458* WDR17_uc003iuk.2_Nonsense_Mutation_p.R434*|WDR17_uc003ium.3_Nonsense_Mutation_p.R434*|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 458 WD 7. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GGGAACTTCCCGAAATGGTGC 0.274 NaN 0 0 0 0.006122 0 13 42 NEIL3 55247 broad.mit.edu 37 4 178256885 178256885 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:178256885G>C uc003iut.2 + 3 439 c.322G>C c.(322-324)GAG>CAG p.E108Q NEIL3_uc010irs.2_Missense_Mutation_p.E11Q NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 108 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TAATCCACTTGAGTATAAATA 0.328 NaN BER_DNA_glycosylases 0 0 0 0.00632 0 28 51 ODZ3 55714 broad.mit.edu 37 4 183603124 183603124 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr4:183603124C>T uc003ivd.1 + 10 2029 c.1992C>T c.(1990-1992)TCC>TCT p.S664S ODZ3_uc003ive.1_Silent_p.S70S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 664 EGF-like 5.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAAGTGGCTCCTGCACGTGTG 0.488 NaN 0 0 0 0.007413 0 18 49 DNAH5 1767 broad.mit.edu 37 5 13885116 13885116 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:13885116G>A uc003jfd.2 - 19 3007 c.2965C>T c.(2965-2967)CAC>TAC p.H989Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 989 Stem (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) TTAATTGTGTGAGAGGAATGA 0.368 NaN Kartagener_syndrome 0 0 0 0.008361 0 31 132 NPR3 4883 broad.mit.edu 37 5 32712404 32712404 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:32712404C>G uc003jhv.2 + 1 740 c.522C>G c.(520-522)CTC>CTG p.L174L NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L174L NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 174 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) ACTCGCACCTCACGCGCGTGG 0.682 NaN 0 0 0 0.008291 0 10 112 IL7R 3575 broad.mit.edu 37 5 35867471 35867471 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:35867471G>C uc003jjs.2 + 3 374 c.285G>C c.(283-285)GAG>GAC p.E95D IL7R_uc011coo.1_Missense_Mutation_p.E95D|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 95 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATTTCATCGAGACAAAGAAAT 0.383 NaN 0 0 0 0.024334 0 26 216 OXCT1 5019 broad.mit.edu 37 5 41840601 41840601 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:41840601C>T uc003jmn.2 - 7 1015 c.684G>A c.(682-684)AGG>AGA p.R228R NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 228 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) AGTTGAAATTCCTTGCACTTT 0.373 NaN 0 0 0 0.025465 0 34 177 CENPK 64105 broad.mit.edu 37 5 64814433 64814433 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:64814433G>A uc003jts.2 - 11 891 c.679C>T c.(679-681)CCA>TCA p.P227S CENPK_uc003jtt.2_Missense_Mutation_p.P197S|CENPK_uc003jtu.2_Missense_Mutation_p.P227S NM_022145 NP_071428 Q9BS16 CENPK_HUMAN SoxLZ/Sox6 leucine zipper binding protein 227 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) GGATCATGTGGAACATCAAAT 0.333 NaN 0 0 0 0.016723 0 13 57 ERBB2IP 55914 broad.mit.edu 37 5 65349677 65349677 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:65349677C>T uc003juk.1 + 21 2839 c.2531C>T c.(2530-2532)TCT>TTT p.S844F ERBB2IP_uc003jui.1_Missense_Mutation_p.S844F|ERBB2IP_uc003juj.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqx.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S840F|ERBB2IP_uc003jul.1_Missense_Mutation_p.S840F NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 844 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGTGATTGTTCTGTTGACTTA 0.393 NaN 0 0 0 0.020292 0 15 36 ERBB2IP 55914 broad.mit.edu 37 5 65349994 65349994 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:65349994C>G uc003juk.1 + 21 3156 c.2848C>G c.(2848-2850)CAT>GAT p.H950D ERBB2IP_uc003jui.1_Missense_Mutation_p.H950D|ERBB2IP_uc003juj.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqx.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqy.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.H946D|ERBB2IP_uc003jul.1_Missense_Mutation_p.H946D NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 950 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGATTCAAATCATAATCCCGA 0.383 NaN 0 0 0 0.020292 0 13 63 HSD17B4 3295 broad.mit.edu 37 5 118788291 118788291 + Missense_Mutation SNP C C G rs143278360 TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:118788291C>G uc003ksj.2 + 1 144 c.21C>G c.(19-21)TTC>TTG p.F7L HSD17B4_uc011cwg.1_5'UTR|HSD17B4_uc011cwh.1_Missense_Mutation_p.F7L|HSD17B4_uc011cwi.1_5'UTR|HSD17B4_uc003ksk.3_5'UTR NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 7 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CGCTGAGGTTCGACGGGCGGG 0.667 NaN 0 0 0 0.006122 0 15 42 PCDHA7 56141 broad.mit.edu 37 5 140215764 140215764 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:140215764C>T uc003lhq.2 + 1 1796 c.1796C>T c.(1795-1797)GCT>GTT p.A599V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A599V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 599 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTTGACGCTGACTCAGGC 0.657 NaN 0 0 0 0.010504 0 21 79 DCTN4 51164 broad.mit.edu 37 5 150097924 150097924 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:150097924G>C uc003lsv.2 - 11 1087 c.985C>G c.(985-987)CTT>GTT p.L329V DCTN4_uc003lsu.2_Missense_Mutation_p.L272V|DCTN4_uc010jhi.2_Missense_Mutation_p.L336V NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 329 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATTTGTAAGAGTCAGGAGG 0.468 NaN 0 0 0 0.027356 0 26 19 ODZ2 57451 broad.mit.edu 37 5 167517748 167517748 + Missense_Mutation SNP T T A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:167517748T>A uc010jjd.2 + 8 1685 c.1685T>A c.(1684-1686)ATG>AAG p.M562K ODZ2_uc003lzq.2_Missense_Mutation_p.M441K|ODZ2_uc003lzr.3_Missense_Mutation_p.M330K|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GACAAAGAGATGGTTTCCTTC 0.483 NaN 0 0 0 0.01441 0 41 147 ODZ2 57451 broad.mit.edu 37 5 167631486 167631486 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:167631486C>G uc010jjd.2 + 19 3657 c.3657C>G c.(3655-3657)TGC>TGG p.C1219W ODZ2_uc003lzr.3_Missense_Mutation_p.C996W|ODZ2_uc003lzt.3_Missense_Mutation_p.C592W|ODZ2_uc010jje.2_Missense_Mutation_p.C490W NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GTCCCAGCTGCAACGGCCTTG 0.577 NaN 0 0 0 0.013537 0 11 50 DOCK2 1794 broad.mit.edu 37 5 169122827 169122827 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:169122827C>G uc003maf.2 + 10 944 c.864C>G c.(862-864)CTC>CTG p.L288L DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 288 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACAAAGACCTCAACAGGGATA 0.433 NaN 0 0 0 0.008871 0 18 83 PRPF4B 8899 broad.mit.edu 37 6 4056655 4056655 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:4056655G>C uc003mvv.2 + 12 2658 c.2567G>C c.(2566-2568)CGT>CCT p.R856P PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 856 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGATTTTATCGTGCTCCTGAA 0.383 NaN 0 0 0 0.012213 0 30 123 NEDD9 4739 broad.mit.edu 37 6 11185604 11185604 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:11185604G>A uc003mzv.2 - 7 2463 c.2296C>T c.(2296-2298)CAG>TAG p.Q766* NEDD9_uc010joz.2_Nonsense_Mutation_p.Q766*|NEDD9_uc003mzw.3_Nonsense_Mutation_p.Q620* NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 766 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GCAGTCACCTGCCGTGTCAGC 0.557 NaN 0 0 0 0.012213 0 30 329 DTNBP1 84062 broad.mit.edu 37 6 15663055 15663055 + Missense_Mutation SNP A A T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:15663055A>T uc003nbm.2 - 1 217 c.46T>A c.(46-48)TTC>ATC p.F16I DTNBP1_uc003nbl.2_5'UTR|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.F16I|DTNBP1_uc010jph.2_5'UTR NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 isoform a 16 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding 0 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) CCGGAGGTGAAATCCTGCTGC 0.716 NaN Hermansky-Pudlak_syndrome 0 0 0 0.024334 0 25 166 HIST1H3E 8353 broad.mit.edu 37 6 26225674 26225674 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:26225674G>A uc003nhb.2 + 2 652 c.292G>A c.(292-294)GAG>AAG p.E98K HIST1H3E_uc003nhc.3_Missense_Mutation_p.E98K NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GGAGGCCTGCGAGGCCTACTT 0.592 NaN OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 71 88 HIST1H1D 3007 broad.mit.edu 37 6 26234919 26234919 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:26234919G>C uc003nhd.2 - 1 298 c.243C>G c.(241-243)ATC>ATG p.I81M NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 81 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GGCCAAGCTTGATACGGCTGT 0.542 NaN 0 0 0 0.01441 0 64 134 SCAND3 114821 broad.mit.edu 37 6 28540437 28540437 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:28540437C>T uc003nlo.2 - 4 3847 c.3229G>A c.(3229-3231)GAA>AAA p.E1077K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1077 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 actaagagttcatttcgtatt 0 NaN 0 0 0 0.008361 0 30 104 HLA-A 3105 broad.mit.edu 37 6 29913231 29913231 + Nonstop_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:29913231G>C uc003nol.2 + 8 1097 c.1097G>C c.(1096-1098)TGA>TCA p.*366S HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372S|HLA-A_uc003noo.2_Missense_Mutation_p.E367Q|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300S|HLA-A_uc003nom.2_Missense_Mutation_p.E244Q|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245S|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 366 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCTATAGTGTGAGACAGCTGC 0.448 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 0 0 0 0.012319 0 19 65 BAT1 7919 broad.mit.edu 37 6 31500659 31500659 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:31500659C>T uc003ntt.2 - 7 1396 c.765G>A c.(763-765)ACG>ACA p.T255T BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.T62T|BAT1_uc003nts.2_Silent_p.T255T|BAT1_uc011dnn.1_Silent_p.T177T|BAT1_uc003ntu.2_Silent_p.T255T|BAT1_uc003ntv.2_Silent_p.T255T NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 255 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 GCGTCAACTTCGTCTCATCAT 0.388 NaN 0 0 0 0.007413 0 18 51 BAT1 7919 broad.mit.edu 37 6 31503186 31503186 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:31503186C>G uc003ntt.2 - 6 1324 c.693G>C c.(691-693)TTG>TTC p.L231F BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.L231F|BAT1_uc011dnn.1_Missense_Mutation_p.L153F|BAT1_uc003ntu.2_Missense_Mutation_p.L231F|BAT1_uc003ntv.2_Missense_Mutation_p.L231F|BAT1_uc003ntw.2_Missense_Mutation_p.L231F|BAT1_uc003ntx.2_Missense_Mutation_p.L231F|BAT1_uc011dno.1_Missense_Mutation_p.L184F|BAT1_uc011dnp.1_Missense_Mutation_p.L153F NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 231 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 TCTCTTTGCTCAAGGTAGCAC 0.343 NaN 0 0 0 0.027356 0 24 110 TNXB 7148 broad.mit.edu 37 6 32053791 32053791 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:32053791C>T uc003nzl.2 - 7 3086 c.2884G>A c.(2884-2886)GAG>AAG p.E962K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1049 Fibronectin type-III 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCTCCCAGCTCCTGGGGGCGC 0.662 NaN 0 0 0 0.013537 0 13 18 PFDN6 10471 broad.mit.edu 37 6 33258524 33258524 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:33258524G>C uc003odt.1 + 5 407 c.292G>C c.(292-294)GAG>CAG p.E98Q WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Missense_Mutation_p.E98Q NM_014260 NP_055075 O15212 PFD6_HUMAN HLA class II region expressed gene KE2 98 'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly prefoldin complex chaperone binding|unfolded protein binding 0 TCGGGATCTTGAGCGGCAGTC 0.562 NaN 0 0 0 0.00308 0 8 27 HMGCLL1 54511 broad.mit.edu 37 6 55406532 55406532 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:55406532G>T uc003pcn.2 - 4 541 c.382C>A c.(382-384)CCA>ACA p.P128T HMGCLL1_uc003pco.2_Missense_Mutation_p.P98T|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P98T|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P98T NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 128 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CATACCTGTGGTACCCATCTG 0.308 NaN 1 0 1.75199e-13 0.007291 1.87685e-13 28 125 NT5E 4907 broad.mit.edu 37 6 86200279 86200279 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:86200279G>A uc003pko.3 + 7 1820 c.1264G>A c.(1264-1266)GAC>AAC p.D422N NT5E_uc010kbr.2_Intron NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 422 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) AGGCACATTTGACCTAGTCCA 0.517 NaN 0 0 0 0.014323 0 23 59 ORC3L 23595 broad.mit.edu 37 6 88321837 88321837 + Silent SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:88321837C>G uc003pmh.2 + 8 788 c.744C>G c.(742-744)CTC>CTG p.L248L ORC3L_uc011dzl.1_Silent_p.L248L|ORC3L_uc011dzm.1_Silent_p.L248L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.L248L|ORC3L_uc003pmi.2_Silent_p.L248L|ORC3L_uc011dzo.1_Silent_p.L105L|ORC3L_uc011dzp.1_Silent_p.L105L NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 248 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) CACTAATACTCATTTTTGGAA 0.328 NaN 0 0 0 0.012319 0 20 58 UBE2J1 51465 broad.mit.edu 37 6 90045107 90045107 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:90045107C>G uc010kcb.2 - 7 645 c.472G>C c.(472-474)GAT>CAT p.D158H UBE2J1_uc003pnc.2_Missense_Mutation_p.D158H NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 158 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) AACAGGACATCCTTCATGGCA 0.358 NaN 0 0 0 0.012319 0 21 54 PRDM1 639 broad.mit.edu 37 6 106552838 106552838 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:106552838G>A uc003prd.2 + 5 1037 c.803G>A c.(802-804)CGT>CAT p.R268H PRDM1_uc003pre.2_Missense_Mutation_p.R134H NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 268 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GACCTCTACCGTTCTAACATT 0.478 NaN D|N|Mis|F|S DLBCL 0 0 0 0.01441 0 83 734 PDSS2 57107 broad.mit.edu 37 6 107780282 107780282 + Missense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:107780282G>T uc003prt.2 - 1 498 c.208C>A c.(208-210)CGC>AGC p.R70S PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.R70S|PDSS2_uc003pru.2_Missense_Mutation_p.R70S|PDSS2_uc003prv.2_Missense_Mutation_p.R70S NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 70 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) AGCAGGCAGCGAAGGCTCATG 0.622 NaN OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.86212e-05 0.008291 3.93576e-05 10 56 PDSS2 57107 broad.mit.edu 37 6 107780434 107780434 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:107780434G>A uc003prt.2 - 1 346 c.56C>T c.(55-57)TCC>TTC p.S19F PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.S19F|PDSS2_uc003pru.2_Missense_Mutation_p.S19F|PDSS2_uc003prv.2_Missense_Mutation_p.S19F NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 19 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GCGACGCGGGGAACCCGAGGC 0.617 NaN OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006122 0 17 115 REV3L 5980 broad.mit.edu 37 6 111628632 111628632 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:111628632G>A uc003puy.3 - 31 9507 c.9184C>T c.(9184-9186)CAG>TAG p.Q3062* REV3L_uc003pux.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puw.3_Nonsense_Mutation_p.Q129* NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 3062 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCAACATGCTGAGGTTGGCTC 0.458 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.012213 0 28 98 RWDD1 51389 broad.mit.edu 37 6 116914146 116914146 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:116914146G>C uc003pxd.2 + 7 777 c.614G>C c.(613-615)GGA>GCA p.G205A RWDD1_uc003pxb.2_Missense_Mutation_p.G109A|RWDD1_uc003pxc.2_Missense_Mutation_p.G109A NM_015952 NP_057036 Q9H446 RWDD1_HUMAN RWD domain containing 1 isoform a 205 protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TTTGCAGCTGGAAACAACGTG 0.393 NaN 0 0 0 0.004482 0 7 44 PTPRK 5796 broad.mit.edu 37 6 128291416 128291416 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:128291416G>A uc003qbk.2 - 30 4643 c.4276C>T c.(4276-4278)CGT>TGT p.R1426C PTPRK_uc003qbj.2_Missense_Mutation_p.R1427C|PTPRK_uc010kfc.2_Missense_Mutation_p.R1433C|PTPRK_uc011ebu.1_Missense_Mutation_p.R1449C NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1426 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TAGCAGAAACGGTATTGCTCC 0.373 NaN 0 0 0 0.008871 0 19 59 PERP 64065 broad.mit.edu 37 6 138413346 138413346 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:138413346G>C uc003qht.2 - 3 598 c.415C>G c.(415-417)CTT>GTT p.L139V NM_022121 NP_071404 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 139 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus 0 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) TTGGCATGAAGGGTGAAGGTC 0.488 NaN 0 0 0 0.027356 0 26 102 C7orf27 221927 broad.mit.edu 37 7 2583404 2583404 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:2583404G>A uc003smi.2 - 5 665 c.623C>T c.(622-624)TCC>TTC p.S208F C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.S208F NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 208 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) GGTGGCCGCGGAGCACAAGGA 0.677 NaN 0 0 0 0.01441 0 44 149 TNRC18 84629 broad.mit.edu 37 7 5353241 5353241 + Silent SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:5353241G>C uc003soi.3 - 27 7630 c.7281C>G c.(7279-7281)CTC>CTG p.L2427L NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2427 Pro-rich. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCATGGTGATGAGGGGTGCTG 0.721 NaN 0 0 0 0.024245 0 13 13 RPA3 6119 broad.mit.edu 37 7 7676707 7676707 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:7676707C>G uc003sri.2 - 8 1462 c.290G>C c.(289-291)GGA>GCA p.G97A RPA3_uc003srh.2_Missense_Mutation_p.G58A NM_002947 NP_002938 P35244 RFA3_HUMAN replication protein A3, 14kDa 97 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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 cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding large_intestine(1) 1 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) ATTGTAAAGTCCAAGATCTGA 0.303 NaN Direct_reversal_of_damage|NER 0 0 0 0.00632 0 29 211 DNAH11 8701 broad.mit.edu 37 7 21599258 21599258 + Nonsense_Mutation SNP G G T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:21599258G>T uc003svc.2 + 4 761 c.730G>T c.(730-732)GAA>TAA p.E244* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 244 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCATGCAATTGAATCTGTGGT 0.338 NaN Kartagener_syndrome 1 0 6.32553e-13 0.024334 6.7463e-13 25 34 CCDC129 223075 broad.mit.edu 37 7 31611746 31611746 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:31611746C>T uc003tcj.1 + 6 1332 c.339C>T c.(337-339)ATC>ATT p.I113I CCDC129_uc011kad.1_Silent_p.I123I|CCDC129_uc003tci.1_Silent_p.I112I|CCDC129_uc011kae.1_Silent_p.I139I|CCDC129_uc003tck.1_Silent_p.I21I NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 113 0 AAACTCCCATCCTATCCAGAG 0.398 NaN 0 0 0 0.016723 0 10 82 BBS9 27241 broad.mit.edu 37 7 33545228 33545228 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:33545228C>G uc003tdn.1 + 20 2782 c.2269C>G c.(2269-2271)CTG>GTG p.L757V BBS9_uc003tdo.1_Missense_Mutation_p.L722V|BBS9_uc003tdp.1_Missense_Mutation_p.L752V|BBS9_uc003tdq.1_Missense_Mutation_p.L717V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L281V|BBS9_uc003tds.1_Missense_Mutation_p.L180V|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 757 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AGCGGCATTTCTGCCGCTACA 0.488 NaN Bardet-Biedl_syndrome 0 0 0 0.004007 0 17 136 GLI3 2737 broad.mit.edu 37 7 42005585 42005585 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:42005585C>T uc011kbh.1 - 15 3177 c.3086G>A c.(3085-3087)AGC>AAC p.S1029N GLI3_uc011kbg.1_Missense_Mutation_p.S970N NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1029 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGGGTTGCAGCTGCTGAGGCT 0.711 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.021553 0 5 25 GLI3 2737 broad.mit.edu 37 7 42005604 42005604 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:42005604G>A uc011kbh.1 - 15 3158 c.3067C>T c.(3067-3069)CGC>TGC p.R1023C GLI3_uc011kbg.1_Missense_Mutation_p.R964C NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1023 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTGCTGAAGCGCGGCACACGA 0.731 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.014758 0 4 22 ABCA13 154664 broad.mit.edu 37 7 48266924 48266924 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:48266924C>G uc003toq.2 + 6 559 c.534C>G c.(532-534)ATC>ATG p.I178M ABCA13_uc003top.2_Missense_Mutation_p.I178M|ABCA13_uc010kyr.2_Translation_Start_Site NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 178 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AGCCTCATATCTGGGATTTTC 0.428 NaN 0 0 0 0.013726 0 32 135 ABCA13 154664 broad.mit.edu 37 7 48349571 48349571 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:48349571C>T uc003toq.2 + 24 9374 c.9349C>T c.(9349-9351)CTG>TTG p.L3117L ABCA13_uc010kys.1_Silent_p.L191L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3117 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CACCGTAGCTCTGTCTGGAAA 0.502 NaN 0 0 0 0.010504 0 21 105 AUTS2 26053 broad.mit.edu 37 7 70249966 70249966 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:70249966C>G uc003tvw.3 + 16 2928 c.2185C>G c.(2185-2187)CCT>GCT p.P729A AUTS2_uc003tvx.3_Missense_Mutation_p.P705A|AUTS2_uc011keg.1_Missense_Mutation_p.P181A NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 729 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TGGGCCACCTCCTCATCACAG 0.507 NaN 0 0 0 0.00499 0 14 62 GTF2IRD1 9569 broad.mit.edu 37 7 73933956 73933956 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:73933956C>G uc003uaq.2 + 6 1216 c.823C>G c.(823-825)CCT>GCT p.P275A GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P307A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P275A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P275A NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 275 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 GCAGGAAGCACCTTCCTGCCC 0.657 NaN 0 0 0 0.013537 0 13 55 ABCB4 5244 broad.mit.edu 37 7 87072646 87072646 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:87072646C>T uc003uiv.1 - 12 1421 c.1345G>A c.(1345-1347)GAT>AAT p.D449N ABCB4_uc003uiw.1_Missense_Mutation_p.D449N|ABCB4_uc003uix.1_Missense_Mutation_p.D449N NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 449 ABC transporter 1.|Cytoplasmic (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) GTGCCCTCATCAGGGTCATAG 0.507 NaN 0 0 0 0.01441 0 83 268 STAG3 10734 broad.mit.edu 37 7 99783835 99783835 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:99783835G>C uc003utx.1 + 5 504 c.349G>C c.(349-351)GAG>CAG p.E117Q STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 117 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTGGTAGATGAGTGGCTGGA 0.284 NaN 0 0 0 0.017118 0 30 197 CDHR3 222256 broad.mit.edu 37 7 105672957 105672957 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:105672957C>T uc003vdl.3 + 19 2580 c.2472C>T c.(2470-2472)GTC>GTT p.V824V CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Silent_p.V811V|CDHR3_uc011klt.1_Silent_p.V736V|CDHR3_uc003vdn.2_3'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 824 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CACGCAGAGTCACTGCTGGGG 0.532 NaN 0 0 0 0.006122 0 16 22 SLC26A4 5172 broad.mit.edu 37 7 107315425 107315425 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:107315425G>A uc003vep.2 + 6 860 c.636G>A c.(634-636)GTG>GTA p.V212V NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 212 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GATTCATAGTGAGGTACTTGG 0.413 NaN Pendred_syndrome 0 0 0 0.01441 0 57 181 PPP1R3A 5506 broad.mit.edu 37 7 113518587 113518587 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:113518587C>T uc010ljy.1 - 4 2591 c.2560G>A c.(2560-2562)GAA>AAA p.E854K NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 854 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTTTGATATTCTGTAATGACC 0.378 NaN 0 0 0 0.025465 0 38 150 ZNF777 27153 broad.mit.edu 37 7 149152502 149152502 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:149152502C>T uc003wfv.2 - 2 775 c.612G>A c.(610-612)ATG>ATA p.M204I NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCAGTAGCCTCATGGCCTGGG 0.602 NaN 0 0 0 0.024334 0 27 102 PTPRN2 5799 broad.mit.edu 37 7 157926662 157926662 + Silent SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:157926662G>C uc003wno.2 - 9 1384 c.1263C>G c.(1261-1263)CTC>CTG p.L421L PTPRN2_uc003wnp.2_Silent_p.L404L|PTPRN2_uc003wnq.2_Silent_p.L421L|PTPRN2_uc003wnr.2_Silent_p.L383L|PTPRN2_uc011kwa.1_Silent_p.L444L NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 421 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCTCCATGTCGAGGGGCCTTG 0.592 NaN 0 0 0 0.010818 0 31 81 WDR60 55112 broad.mit.edu 37 7 158718985 158718985 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:158718985C>G uc003woe.3 + 18 2523 c.2365C>G c.(2365-2367)CAA>GAA p.Q789E WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.Q421E NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 789 WD 2. ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CTTTTCTACTCAAGAAGGTAC 0.393 NaN 0 0 0 0.004672 0 3 18 MYOM2 9172 broad.mit.edu 37 8 2057272 2057272 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:2057272G>A uc003wpx.3 + 25 3268 c.3130G>A c.(3130-3132)GAT>AAT p.D1044N MYOM2_uc011kwi.1_Missense_Mutation_p.D469N NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1044 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTTATCACCAGATGCCAGCTA 0.463 NaN 0 0 0 0.021022 0 37 45 SPAG11B 10407 broad.mit.edu 37 8 7308402 7308402 + Nonstop_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:7308402T>C uc003wrk.2 - 4 478 c.311A>G c.(310-312)TAG>TGG p.*104W SPAG11B_uc003wrg.1_Missense_Mutation_p.R79G|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Nonstop_Mutation_p.*51W|SPAG11B_uc003wrj.2_Missense_Mutation_p.R26G|SPAG11B_uc003wrl.2_Missense_Mutation_p.R79G NM_016512 NP_057596 Q08648 SG11B_HUMAN sperm associated antigen 11B isoform A 104 spermatogenesis extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) ATGGTATTTCTAATTCCCGGT 0.458 NaN 0 0 0 0.014323 0 22 64 SGK223 157285 broad.mit.edu 37 8 8197120 8197120 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:8197120C>G uc003wsh.3 - 3 2188 c.2188G>C c.(2188-2190)GAT>CAT p.D730H NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 730 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TTTTCCAAATCAGAGCTGCTC 0.498 NaN 0 0 0 0.015359 0 32 56 PRKDC 5591 broad.mit.edu 37 8 48805803 48805803 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:48805803G>A uc003xqi.2 - 32 3801 c.3744C>T c.(3742-3744)TTC>TTT p.F1248F PRKDC_uc003xqj.2_Silent_p.F1248F|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1248 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCTGCAGGCTGAATGGCCCCC 0.617 NaN NHEJ 0 0 0 0.014758 0 5 26 PXDNL 137902 broad.mit.edu 37 8 52339252 52339252 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:52339252G>A uc003xqu.3 - 13 1693 c.1592C>T c.(1591-1593)TCA>TTA p.S531L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 531 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGCATGACATGAAATGTTTAT 0.358 NaN 0 0 0 0.021553 0 5 31 CLVS1 157807 broad.mit.edu 37 8 62371083 62371083 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:62371083C>T uc003xuh.2 + 5 1283 c.959C>T c.(958-960)TCA>TTA p.S320L CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 320 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 AGAGAATGCTCACCCAAGCTG 0.443 NaN 0 0 0 0.004007 0 14 32 TRIM55 84675 broad.mit.edu 37 8 67047319 67047319 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:67047319C>T uc003xvv.2 + 3 662 c.436C>T c.(436-438)CTG>TTG p.L146L TRIM55_uc003xvu.2_Silent_p.L146L|TRIM55_uc003xvw.2_Silent_p.L146L|TRIM55_uc003xvx.2_Silent_p.L146L NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 146 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CACCTGCTCTCTGTGCAAGGT 0.547 NaN 0 0 0 0.00499 0 17 126 NCOA2 10499 broad.mit.edu 37 8 71053436 71053436 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:71053436G>C uc003xyn.1 - 14 3173 c.3011C>G c.(3010-3012)TCT>TGT p.S1004C NCOA2_uc011lfb.1_Missense_Mutation_p.S92C NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1004 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CATGACCTGAGACTGAAGCGT 0.498 NaN T RUNXBP2 AML 0 0 0 0.021553 0 6 55 ZFHX4 79776 broad.mit.edu 37 8 77766597 77766597 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:77766597G>A uc003yav.2 + 10 7692 c.7305G>A c.(7303-7305)ACG>ACA p.T2435T ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2435 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) TTTCCATGACGTCTCTCCAGA 0.458 NaN HNSCC(33;0.089) 0 0 0 0.01441 0 117 22 CSMD3 114788 broad.mit.edu 37 8 113318315 113318315 + Missense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr8:113318315C>A uc003ynu.2 - 51 8151 c.7992G>T c.(7990-7992)TTG>TTT p.L2664F CSMD3_uc003yns.2_Missense_Mutation_p.L1866F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2624F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2560F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2664 Extracellular (Potential).|Sushi 15. 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 CTTTGGATGACAATCGATATC 0.418 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 1 0 5.8336e-16 0.015359 6.36273e-16 33 106 TTC39B 158219 broad.mit.edu 37 9 15188001 15188001 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:15188001C>G uc003zlr.1 - 14 1286 c.1165G>C c.(1165-1167)GAT>CAT p.D389H TTC39B_uc003zlq.1_Missense_Mutation_p.D358H|TTC39B_uc011lmp.1_Missense_Mutation_p.D290H|TTC39B_uc010mie.1_Missense_Mutation_p.D387H|TTC39B_uc011lmq.1_Missense_Mutation_p.D376H|TTC39B_uc011lmr.1_Missense_Mutation_p.D320H|TTC39B_uc010mif.1_Missense_Mutation_p.D389H|TTC39B_uc003zls.1_Missense_Mutation_p.D290H|TTC39B_uc010mig.1_Missense_Mutation_p.D358H|TTC39B_uc003zlp.1_5'UTR NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 389 binding ovary(1) 1 CAAAGCAGATCTGAATAGTAA 0.373 NaN 0 0 0 0.008361 0 25 100 BNC2 54796 broad.mit.edu 37 9 16437085 16437085 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:16437085G>A uc003zml.2 - 6 1247 c.1107C>T c.(1105-1107)TCC>TCT p.S369S BNC2_uc011lmw.1_Silent_p.S274S|BNC2_uc003zmm.2_Silent_p.S327S|BNC2_uc003zmq.1_Silent_p.S383S|BNC2_uc003zmr.1_Silent_p.S406S|BNC2_uc003zmp.1_Silent_p.S397S|BNC2_uc010mij.1_Silent_p.S291S|BNC2_uc011lmv.1_Silent_p.S195S|BNC2_uc003zmo.1_Silent_p.S291S|BNC2_uc003zmj.2_Silent_p.S134S|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.S134S|BNC2_uc003zmn.1_Silent_p.S134S NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 369 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) GAGAAACTTCGGATTCGCTGC 0.483 NaN 0 0 0 0.024245 0 14 138 MLLT3 4300 broad.mit.edu 37 9 20414109 20414109 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:20414109C>G uc003zoe.2 - 5 994 c.735G>C c.(733-735)GAG>GAC p.E245D MLLT3_uc011lne.1_Missense_Mutation_p.E213D|MLLT3_uc011lnf.1_Missense_Mutation_p.E242D|MLLT3_uc003zof.2_Missense_Mutation_p.E46D NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GAACTATTTTCTCTTCTTTCA 0.388 NaN T MLL ALL 0 0 0 0.01441 0 65 210 MSMP 692094 broad.mit.edu 37 9 35754000 35754000 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:35754000G>C uc003zyb.1 - 1 273 c.127C>G c.(127-129)CAA>GAA p.Q43E NM_001044264 NP_001037729 Q1L6U9 MSMP_HUMAN PC3-secreted microprotein precursor 43 extracellular region 0 ACTTTACCTTGAGCTTGGAAG 0.552 NaN 0 0 0 0.01441 0 428 245 FAM75A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:43625382G>A uc011lrb.1 - 4 3334 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1102 integral to membrane 0 CTTGTGAATAGGGGGAAACAT 0.483 NaN 0 0 0 0.013537 0 8 49 FLJ46321 389763 broad.mit.edu 37 9 84607086 84607086 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:84607086G>A uc004amn.2 + 4 1748 c.1701G>A c.(1699-1701)CTG>CTA p.L567L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 567 integral to membrane 0 CTCAAACCCTGCCCCAAGGTC 0.517 NaN 0 0 0 0.024334 0 25 122 SPIN1 10927 broad.mit.edu 37 9 91090081 91090081 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:91090081G>A uc010mqj.2 + 6 1178 c.678G>A c.(676-678)TCG>TCA p.S226S SPIN1_uc004apy.2_Silent_p.S226S|SPIN1_uc004apz.2_Silent_p.S226S|SPIN1_uc010mqk.2_Silent_p.S226S NM_006717 NP_006708 Q9Y657 SPIN1_HUMAN spindlin 226 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding 0 AAGATGGCTCGAAAAGGACTG 0.418 NaN 0 0 0 0.012319 0 21 103 WNK2 65268 broad.mit.edu 37 9 96015214 96015214 + Silent SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:96015214G>A uc004ati.1 + 8 1884 c.1884G>A c.(1882-1884)TCG>TCA p.S628S WNK2_uc011lud.1_Silent_p.S628S|WNK2_uc004atj.2_Silent_p.S628S|WNK2_uc004atk.2_Silent_p.S265S|WNK2_uc010mrc.1_Silent_p.S628S NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 628 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 ACTCAGACTCGCAGAGCAGCC 0.642 NaN 0 0 0 0.009096 0 4 3 KIAA1529 57653 broad.mit.edu 37 9 100079409 100079409 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:100079409G>A uc011lut.1 + 21 2180 c.1407G>A c.(1405-1407)ATG>ATA p.M469I KIAA1529_uc004axe.1_Missense_Mutation_p.M469I|KIAA1529_uc004axg.1_Missense_Mutation_p.M330I|KIAA1529_uc011lus.1_Missense_Mutation_p.M287I|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.M330I|KIAA1529_uc011luv.1_Missense_Mutation_p.M327I NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCAACCTGATGGAGTCCACCC 0.612 NaN 0 0 0 0.008361 0 30 125 MURC 347273 broad.mit.edu 37 9 103348232 103348232 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:103348232C>T uc004bba.2 + 2 684 c.594C>T c.(592-594)ATC>ATT p.I198I NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 198 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) TTGATAATATCAAGAAGGCAT 0.423 NaN 0 0 0 0.01441 0 72 39 ZNF189 7743 broad.mit.edu 37 9 104171809 104171809 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:104171809C>T uc004bbh.1 + 3 2035 c.1759C>T c.(1759-1761)CAG>TAG p.Q587* ZNF189_uc004bbg.1_Nonsense_Mutation_p.Q545*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.Q573*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.Q572* NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 587 C2H2-type 15. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) TGTCAACCATCAGAAGATCCA 0.423 NaN 0 0 0 0.01892 0 25 55 C9orf5 23731 broad.mit.edu 37 9 111812856 111812856 + Silent SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:111812856G>C uc004bdt.3 - 13 2003 c.1971C>G c.(1969-1971)CTC>CTG p.L657L C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.L649L NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 657 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) GTACCAGAGAGAGTACAAAAT 0.443 NaN 0 0 0 0.00499 0 15 76 SUSD1 64420 broad.mit.edu 37 9 114904756 114904756 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:114904756C>T uc004bfu.2 - 5 591 c.550G>A c.(550-552)GAG>AAG p.E184K SUSD1_uc010mui.2_Missense_Mutation_p.E184K|SUSD1_uc010muj.2_Missense_Mutation_p.E184K NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 184 Sushi 1.|Extracellular (Potential). integral to membrane calcium ion binding 0 TCTGGAACCTCAGGAGGGGTA 0.398 NaN 0 0 0 0.01441 0 111 82 TLR4 7099 broad.mit.edu 37 9 120475327 120475327 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:120475327G>C uc004bjz.2 + 3 1212 c.921G>C c.(919-921)TTG>TTC p.L307F TLR4_uc004bka.2_Missense_Mutation_p.L267F|TLR4_uc004bkb.2_Missense_Mutation_p.L107F NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 307 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTAATTGTTTGACAAATGTTT 0.338 NaN 0 0 0 0.008361 0 30 106 WDR38 401551 broad.mit.edu 37 9 127617983 127617983 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:127617983C>T uc004box.2 + 3 317 c.261C>T c.(259-261)GTC>GTT p.V87V WDR38_uc011lzn.1_Silent_p.V76V|WDR38_uc011lzo.1_Silent_p.V87V|WDR38_uc011lzp.1_Intron NM_001045476 NP_001038941 Q5JTN6 WDR38_HUMAN WD repeat domain 38 87 WD 2. 0 ACTGCACTGTCCGCCTGTGGG 0.642 NaN OREG0019485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 19 77 PTGES2 80142 broad.mit.edu 37 9 130887585 130887585 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:130887585C>G uc004bti.2 - 2 893 c.415G>C c.(415-417)GAG>CAG p.E139Q PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 139 Glutaredoxin.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 AACTTGATCTCAGCCCTGCGC 0.602 NaN 0 0 0 0.006122 0 18 8 PTGES2 80142 broad.mit.edu 37 9 130887694 130887694 + Silent SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:130887694C>T uc004bti.2 - 2 784 c.306G>A c.(304-306)CTG>CTA p.L102L PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 102 Glutaredoxin.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 GGTACAGGGTCAGCTGCAGGC 0.637 NaN 0 0 0 0.023175 0 35 23 MED27 9442 broad.mit.edu 37 9 134889766 134889766 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr9:134889766C>T uc004cbe.1 - 3 459 c.437G>A c.(436-438)CGT>CAT p.R146H MED27_uc004cbf.1_Missense_Mutation_p.R146H|MED27_uc011mco.1_Missense_Mutation_p.R146H|MED27_uc004cbg.3_Missense_Mutation_p.R146H NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 146 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CTTTGGTCTACGTTTGGCAGA 0.428 NaN 0 0 0 0.024334 0 24 73 MXRA5 25878 broad.mit.edu 37 X 3238916 3238916 + Missense_Mutation SNP G G C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:3238916G>C uc004crg.3 - 5 4967 c.4810C>G c.(4810-4812)CAA>GAA p.Q1604E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1604 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGTTAGTTGATGAGAAGCA 0.483 NaN 0 0 0 0.025465 0 42 82 OFD1 8481 broad.mit.edu 37 X 13780470 13780470 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:13780470C>G uc004cvp.3 + 18 2754 c.2395C>G c.(2395-2397)CGA>GGA p.R799G OFD1_uc004cvr.3_Missense_Mutation_p.R366G|OFD1_uc011mil.1_Missense_Mutation_p.R366G|OFD1_uc004cvq.3_Missense_Mutation_p.R659G|OFD1_uc010nen.2_Missense_Mutation_p.R798G|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R758G|OFD1_uc004cvv.3_Missense_Mutation_p.R758G NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 799 Mediates the interaction with SDCCAG8. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 TAGTCTTTATCGAAGACAAAC 0.343 NaN 0 0 0 0.027356 0 24 64 FAM47B 170062 broad.mit.edu 37 X 34961687 34961687 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:34961687C>G uc004ddi.1 + 1 757 c.739C>G c.(739-741)CTC>GTC p.L247V NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 247 Pro-rich. ovary(3)|breast(1) 4 CGCATCTCATCTCCGCGTGGA 0.627 NaN 0 0 0 0.024334 0 25 63 CDK16 5127 broad.mit.edu 37 X 47083838 47083838 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:47083838C>T uc004dho.2 + 3 653 c.257C>T c.(256-258)TCA>TTA p.S86L CDK16_uc011mli.1_Missense_Mutation_p.S92L|CDK16_uc011mlj.1_Missense_Mutation_p.S86L|CDK16_uc011mlk.1_Missense_Mutation_p.S86L|CDK16_uc011mll.1_Missense_Mutation_p.S160L NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 86 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 GACCAGGCTTCAGCCACGTCC 0.607 NaN 0 0 0 0.020292 0 15 23 ARHGEF9 23229 broad.mit.edu 37 X 62885870 62885870 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:62885870C>G uc004dvl.2 - 7 1791 c.952G>C c.(952-954)GAG>CAG p.E318Q ARHGEF9_uc004dvj.1_Missense_Mutation_p.E207Q|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Missense_Mutation_p.E297Q|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E297Q|ARHGEF9_uc011mot.1_Missense_Mutation_p.E265Q|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E325Q NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 318 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 TAGATCAGCTCCGAGCTCCTG 0.592 NaN 0 0 0 0.004007 0 16 31 FAM123B 139285 broad.mit.edu 37 X 63411969 63411969 + Nonsense_Mutation SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:63411969C>A uc004dvo.2 - 2 1471 c.1198G>T c.(1198-1200)GAG>TAG p.E400* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 400 Glu-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 tcttcttcctcctccttaacc 0.343 NaN 1 0 2.35188e-11 0.006122 2.49175e-11 18 42 FAM123B 139285 broad.mit.edu 37 X 63412290 63412290 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:63412290C>T uc004dvo.2 - 2 1150 c.877G>A c.(877-879)GTA>ATA p.V293I NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 293 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CCTGCTACTACCTTCTCCCCT 0.557 NaN 0 0 0 0.011902 0 46 103 FAM123B 139285 broad.mit.edu 37 X 63412575 63412575 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:63412575C>G uc004dvo.2 - 2 865 c.592G>C c.(592-594)GAG>CAG p.E198Q NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 198 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CTGACCCTCTCAGGCCCCTTG 0.577 NaN 0 0 0 0.004007 0 16 35 MAGEE1 57692 broad.mit.edu 37 X 75649248 75649248 + Nonsense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:75649248C>T uc004ecm.1 + 1 1132 c.925C>T c.(925-927)CAG>TAG p.Q309* NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 309 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CACCTCCGTGCAGCCCACTGC 0.692 NaN 0 0 0 0.004672 0 3 22 DIAPH2 1730 broad.mit.edu 37 X 96854279 96854279 + Nonsense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:96854279C>G uc004efu.3 + 27 3665 c.3269C>G c.(3268-3270)TCA>TGA p.S1090* NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 1090 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 TTGGAAAGGTCACGCTCTCGC 0.353 NaN 0 0 0 0.00308 0 7 3 AVPR2 554 broad.mit.edu 37 X 153171751 153171751 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chrX:153171751C>T uc004fjh.3 + 2 862 c.791C>T c.(790-792)GCA>GTA p.A264V AVPR2_uc004fjg.3_Missense_Mutation_p.A53V|AVPR2_uc004fji.2_Missense_Mutation_p.A264V NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 264 Cytoplasmic (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CACGTGTCAGCAGCTGTGGCC 0.657 NaN 0 0 0 0.007413 0 19 18 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:40713708_40713709delTC uc001cfe.2 + 1 136_137 c.43_44delTC c.(43-45)TCTfs p.S15fs NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 NaN NaN NaN NaN NaN NaN 8 511 --- --- PIK3C2B 5287 broad.mit.edu 37 1 204412694 204412697 + Frame_Shift_Del DEL ACTG ACTG - TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr1:204412694_204412697delACTG uc001haw.2 - 20 3375_3378 c.2896_2899delCAGT c.(2896-2901)CAGTTCfs p.Q966fs PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.Q938fs NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 966_967 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CGGATGCTGAACTGAGAGTCCTTG 0.569 NaN NaN NaN NaN NaN NaN 37 254 --- --- SMARCC2 6601 broad.mit.edu 37 12 56559126 56559127 + Frame_Shift_Ins INS - - G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:56559126_56559127insG uc001skb.2 - 26 3220_3221 c.3114_3115insC c.(3112-3117)CCAGGGfs p.P1038fs SMARCC2_uc001skd.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001ska.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001skc.2_Frame_Shift_Ins_p.P1068fs|SMARCC2_uc010sqf.1_Frame_Shift_Ins_p.P958fs NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 1038_1039 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGGGAACCCCTGGTGGGACTG 0.584 NaN NaN NaN NaN NaN NaN 8 168 --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr12:122812690_122812691insT uc001ucg.1 - 16 3158_3159 c.3052_3053insA c.(3052-3054)AGCfs p.S1018fs CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1018 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 NaN NaN NaN NaN NaN NaN 11 220 --- --- HERC2 8924 broad.mit.edu 37 15 28511100 28511101 + Frame_Shift_Ins INS - - C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr15:28511100_28511101insC uc001zbj.2 - 13 1724_1725 c.1618_1619insG c.(1618-1620)GTGfs p.V540fs HERC2_uc001zbl.1_Frame_Shift_Ins_p.V235fs NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 540 RCC1 1. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCGGAGATCACCTTAGGCTCC 0.51 NaN NaN NaN NaN NaN NaN 7 54 --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr2:26022304_26022306delCTG uc002rgs.2 - 4 572_574 c.351_353delCAG c.(349-354)AGCAGT>AGT p.117_118SS>S NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 117_118 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 NaN NaN NaN NaN NaN NaN 7 234 --- --- ERBB2IP 55914 broad.mit.edu 37 5 65349986 65349987 + Frame_Shift_Ins INS - - T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr5:65349986_65349987insT uc003juk.1 + 21 3148_3149 c.2840_2841insT c.(2839-2841)GATfs p.D947fs ERBB2IP_uc003jui.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc003juj.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqx.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqy.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Frame_Shift_Ins_p.D943fs|ERBB2IP_uc003jul.1_Frame_Shift_Ins_p.D943fs NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 947 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTCAAGTTTGATTCAAATCATA 0.386 NaN NaN NaN NaN NaN NaN 13 69 --- --- FAM120B 84498 broad.mit.edu 37 6 170697422 170697423 + Frame_Shift_Ins INS - - CG TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr6:170697422_170697423insCG uc003qxp.2 + 7 2439_2440 c.2331_2332insCG c.(2329-2334)GTCCGCfs p.V777fs FAM120B_uc003qxo.1_Frame_Shift_Ins_p.V777fs|FAM120B_uc011ehd.1_Frame_Shift_Ins_p.V109fs|FAM120B_uc010kla.1_RNA NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 777_778 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CCCTTCTCGTCCGCGGCCTCAC 0.525 NaN NaN NaN NaN NaN NaN 17 53 --- --- PMS2 5395 broad.mit.edu 37 7 6043619 6043621 + In_Frame_Del DEL TTC TTC - TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 298ad91c-8d67-4240-9937-85e5769d460f 0eb62be9-ac9f-4a73-9453-6a5c109c19c1 g.chr7:6043619_6043621delTTC uc003spl.2 - 3 319_321 c.232_234delGAA c.(232-234)GAAdel p.E78del PMS2_uc003spj.2_In_Frame_Del_p.R6del|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_5'UTR|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_In_Frame_Del_p.E78del|PMS2_uc010ktf.1_In_Frame_Del_p.E78del NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 78 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTTCGAAGTTTTCTTCTTCTACC 0.31 NaN Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome NaN NaN NaN NaN NaN 29 301 --- ---