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 ACAP3 116983 broad.mit.edu 37 1 1235580 1235580 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:1235580G>A uc001aeb.2 - 7 599 c.525C>T c.(523-525)ATC>ATT p.I175I ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.I133I|ACAP3_uc001aec.1_Silent_p.I133I NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 175 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 GCAGAACATTGATCTGCCAGA 0.632 NaN 0 0 0 0.013537 0 13 15 TAS1R3 83756 broad.mit.edu 37 1 1267925 1267925 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:1267925G>A uc010nyk.1 + 3 1014 c.1014G>A c.(1012-1014)GTG>GTA p.V338V NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 338 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCCAGTACGTGAAGACGCACC 0.701 NaN 0 0 0 0.004482 0 9 27 TAS1R3 83756 broad.mit.edu 37 1 1268955 1268955 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:1268955G>A uc010nyk.1 + 6 1670 c.1670G>A c.(1669-1671)CGC>CAC p.R557H NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 557 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGCTTCCGCCGCAGGTCTCGG 0.657 NaN 0 0 0 0.010729 0 11 31 LRRC47 57470 broad.mit.edu 37 1 3697705 3697705 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:3697705G>A uc001akx.1 - 7 1727 c.1699C>T c.(1699-1701)CCG>TCG p.P567S NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 567 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GCCTTGGACGGGTACACCACC 0.652 NaN 0 0 0 0.006122 0 18 45 H6PD 9563 broad.mit.edu 37 1 9305294 9305294 + Nonsense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:9305294C>T uc001apt.2 + 2 574 c.301C>T c.(301-303)CAG>TAG p.Q101* NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 101 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCACAAGGATCAGTTCCTGCA 0.617 NaN 0 0 0 0.019004 0 39 29 VPS13D 55187 broad.mit.edu 37 1 12401928 12401928 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:12401928C>T uc001atv.2 + 41 8859 c.8718C>T c.(8716-8718)ACC>ACT p.T2906T VPS13D_uc001atw.2_Silent_p.T2881T|VPS13D_uc001atx.2_Silent_p.T2093T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2905 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCACCCTGACCACCACACCCA 0.572 NaN 0 0 0 0.008871 0 18 70 SPEN 23013 broad.mit.edu 37 1 16265886 16265886 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:16265886C>T uc001axk.1 + 15 11163 c.10959C>T c.(10957-10959)ATC>ATT p.I3653I SPEN_uc010obp.1_Silent_p.I3612I NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3653 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCTCCAACATCTCTCCCCACC 0.557 NaN 0 0 0 0.01441 0 57 138 UBR4 23352 broad.mit.edu 37 1 19439182 19439182 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:19439182G>A uc001bbi.2 - 78 11641 c.11637C>T c.(11635-11637)GTC>GTT p.V3879V UBR4_uc001bbj.1_3'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3879 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AATGTTCTGTGACAGCCGAGG 0.582 NaN 0 0 0 0.011902 0 44 112 HTR6 3362 broad.mit.edu 37 1 19992501 19992501 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:19992501G>A uc001bcl.2 + 1 722 c.255G>A c.(253-255)CTG>CTA p.L85L NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 85 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGGCCATGCTGAACGCGCTGT 0.667 NaN 0 0 0 0.00308 0 8 36 RAP1GAP 5909 broad.mit.edu 37 1 21940120 21940120 + Splice_Site SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:21940120C>A uc001bex.2 - 9 732 c.474_splice c.e9+1 p.K158_splice RAP1GAP_uc001bev.2_Splice_Site_p.K158_splice|RAP1GAP_uc001bew.2_Splice_Site_p.K222_splice|RAP1GAP_uc001bey.2_Splice_Site_p.K158_splice NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGAGACCTCACCTTTGCCATC 0.597 NaN 1 0 1.16021e-09 0.007291 1.21631e-09 28 36 MYOM3 127294 broad.mit.edu 37 1 24408602 24408602 + Silent SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:24408602G>C uc001bin.3 - 18 2332 c.2169C>G c.(2167-2169)CCC>CCG p.P723P MYOM3_uc001bim.3_Silent_p.P380P|MYOM3_uc001bio.2_Silent_p.P723P|MYOM3_uc001bip.1_3'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 723 Fibronectin type-III 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CACGACGCTTGGGGGGTTTCC 0.592 NaN 0 0 0 0.00308 0 8 18 SEPN1 57190 broad.mit.edu 37 1 26135144 26135144 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:26135144G>A uc010oer.1 + 7 666 c.611G>A c.(610-612)CGC>CAC p.R204H SEPN1_uc010oes.1_Missense_Mutation_p.R170H NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 204 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TTTGCCACCCGCCACTTCCAG 0.657 NaN 0 0 0 0.015359 0 34 58 ARID1A 8289 broad.mit.edu 37 1 27059194 27059194 + Nonsense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:27059194C>T uc001bmv.1 + 4 2204 c.1831C>T c.(1831-1833)CAG>TAG p.Q611* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q228* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 611 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATTTGGGTCTCAGGCATCCTC 0.478 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.006122 0 19 69 FGR 2268 broad.mit.edu 37 1 27948152 27948152 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:27948152C>T uc001boj.2 - 3 492 c.346G>A c.(346-348)GAG>AAG p.E116K FGR_uc001bok.2_Missense_Mutation_p.E116K|FGR_uc001bol.2_Missense_Mutation_p.E116K|FGR_uc001bom.2_Missense_Mutation_p.E116K NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 116 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GACCGAGCCTCCCACCAGTCA 0.592 NaN 0 0 0 0.00245 0 14 44 PTPRU 10076 broad.mit.edu 37 1 29585795 29585795 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:29585795C>G uc001bru.2 + 4 610 c.500C>G c.(499-501)TCC>TGC p.S167C PTPRU_uc001brv.2_Missense_Mutation_p.S167C|PTPRU_uc001brw.2_Missense_Mutation_p.S167C|PTPRU_uc009vtq.2_Missense_Mutation_p.S167C|PTPRU_uc009vtr.2_Missense_Mutation_p.S167C NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 167 Extracellular (Potential).|MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCCCTCATCTCCCCAGACCGC 0.642 NaN 0 0 0 0.00308 0 7 38 SPOCD1 90853 broad.mit.edu 37 1 32257898 32257898 + Silent SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:32257898A>T uc001bts.1 - 15 2938 c.2880T>A c.(2878-2880)TCT>TCA p.S960S SPOCD1_uc001btr.1_Silent_p.S48S|SPOCD1_uc001btt.2_Silent_p.S265S|SPOCD1_uc001btu.2_Silent_p.S960S|SPOCD1_uc001btv.2_Silent_p.S453S NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 960 SPOC. transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGTGCTCCACAGAGGCCAGCC 0.667 NaN 0 0 0 0.004482 0 8 11 RBBP4 5928 broad.mit.edu 37 1 33134689 33134689 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:33134689T>C uc001bvr.2 + 6 876 c.717T>C c.(715-717)CAT>CAC p.H239H RBBP4_uc001bvs.2_Silent_p.H238H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Silent_p.H204H NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 239 WD 3. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATCTACTCCATGAGTCTCTGT 0.413 NaN 0 0 0 0.01441 0 53 70 GJB4 127534 broad.mit.edu 37 1 35227557 35227557 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:35227557C>T uc001bxv.1 + 2 1072 c.702C>T c.(700-702)TGC>TGT p.C234C GJB4_uc001bxw.3_Silent_p.C234C NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 234 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CCGATACGTGCCCACCATATG 0.612 NaN 0 0 0 0.005443 0 26 47 THRAP3 9967 broad.mit.edu 37 1 36754808 36754808 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:36754808A>C uc001cae.3 + 5 1412 c.1188A>C c.(1186-1188)AAA>AAC p.K396N THRAP3_uc001caf.3_Missense_Mutation_p.K396N|THRAP3_uc001cag.1_Missense_Mutation_p.K396N NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 396 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTGCTCCCAAAACTGATTCTG 0.418 NaN T USP6 aneurysmal bone cysts 0 0 0 0.005443 0 29 68 DPH2 1802 broad.mit.edu 37 1 44435913 44435913 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:44435913G>A uc001ckz.2 + 1 261 c.66G>A c.(64-66)CTG>CTA p.L22L DPH2_uc001cla.2_Silent_p.L22L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 22 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TGCCAGGACTGCTTACTCCTC 0.632 NaN 0 0 0 0.015359 0 35 35 LRRC42 115353 broad.mit.edu 37 1 54417905 54417905 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:54417905G>T uc001cwj.1 + 2 433 c.233G>T c.(232-234)CGA>CTA p.R78L LRRC42_uc001cwl.1_Missense_Mutation_p.R78L|LRRC42_uc001cwk.1_Missense_Mutation_p.R78L|LRRC42_uc009vzm.1_Missense_Mutation_p.R78L NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 78 0 ACATACACCCGAGAGGGGAAT 0.483 NaN 1 0 2.24059e-21 0.00632 2.43367e-21 30 97 TMEM61 199964 broad.mit.edu 37 1 55452006 55452006 + Silent SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:55452006C>A uc001cyd.2 + 2 526 c.252C>A c.(250-252)GGC>GGA p.G84G NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN transmembrane protein 61 84 Helical; (Potential). integral to membrane 0 TGCTCATTGGCCTGCTGTGGT 0.647 NaN 1 0 3.01185e-09 0.003954 3.15139e-09 26 94 DOCK7 85440 broad.mit.edu 37 1 62939693 62939693 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:62939693G>C uc001daq.2 - 47 6173 c.6139C>G c.(6139-6141)CAT>GAT p.H2047D DOCK7_uc001dan.2_Missense_Mutation_p.H1910D|DOCK7_uc001dao.2_Missense_Mutation_p.H1908D|DOCK7_uc001dap.2_Missense_Mutation_p.H2027D|DOCK7_uc001dam.2_Missense_Mutation_p.H1229D|DOCK7_uc010oov.1_Missense_Mutation_p.H788D|DOCK7_uc001dar.1_Missense_Mutation_p.H221D NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 2058 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 AGTTTATTATGATGTCTGAAG 0.368 NaN 0 0 0 0.00499 0 14 29 TNNI3K 51086 broad.mit.edu 37 1 74737353 74737353 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:74737353C>T uc001dgf.1 + 5 456 c.405C>T c.(403-405)CTC>CTT p.L135L TNNI3K_uc001dgc.1_Silent_p.L236L|TNNI3K_uc001dgd.2_Silent_p.L236L|TNNI3K_uc001dge.1_Silent_p.L236L NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 135 ANK 3. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ACGGTGGCCTCACTGCCCTCC 0.433 NaN 0 0 0 0.005524 0 38 57 WDR63 126820 broad.mit.edu 37 1 85592370 85592370 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:85592370C>G uc001dkt.2 + 20 2480 c.2289C>G c.(2287-2289)ATC>ATG p.I763M WDR63_uc009wcl.2_Missense_Mutation_p.I724M NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 763 WD 5. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TAACTATGATCACCTACATCA 0.383 NaN 0 0 0 0.007291 0 27 46 LPPR5 163404 broad.mit.edu 37 1 99387566 99387566 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:99387566G>A uc001dsb.2 - 4 892 c.670C>T c.(670-672)CCA>TCA p.P224S LPPR5_uc001dsc.2_Missense_Mutation_p.P224S NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 224 integral to membrane hydrolase activity 0 CATAGAACTGGCTTAGCAAGT 0.368 NaN 0 0 0 0.013537 0 13 36 PSMA5 5686 broad.mit.edu 37 1 109957934 109957934 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:109957934C>G uc001dxn.2 - 3 233 c.148G>C c.(148-150)GTG>CTG p.V50L PSMA5_uc010ovj.1_5'UTR NM_002790 NP_002781 P28066 PSA5_HUMAN proteasome alpha 5 subunit 50 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity 0 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) CTCTTCTCCACAGCTAGGCAC 0.433 NaN 0 0 0 0.00632 0 29 31 GSTM4 2948 broad.mit.edu 37 1 110199865 110199865 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:110199865G>A uc001dyf.2 + 3 455 c.141G>A c.(139-141)CTG>CTA p.L47L GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.L47L|GSTM4_uc001dyh.2_Silent_p.L47L|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 47 Glutathione binding (By similarity).|GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GCCAGTGGCTGAATGAAAAAT 0.567 NaN 0 0 0 0.012319 0 19 44 PRPF3 9129 broad.mit.edu 37 1 150307445 150307445 + Silent SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:150307445G>T uc001eum.3 + 7 930 c.768G>T c.(766-768)CTG>CTT p.L256L PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L215L|PRPF3_uc010pcb.1_Silent_p.L207L|PRPF3_uc009wlq.1_RNA NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 256 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CTACACCACTGATCCTGGATG 0.448 NaN 1 0 0.000308642 0.003163 0.000315036 14 11 TARS2 80222 broad.mit.edu 37 1 150471769 150471769 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:150471769G>T uc001euq.2 + 13 1624 c.1617G>T c.(1615-1617)AAG>AAT p.K539N TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.K457N|TARS2_uc009wlt.2_Missense_Mutation_p.K165N|TARS2_uc009wls.2_Missense_Mutation_p.K409N NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 539 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) ATGGACCTAAGGTAAGCTTGG 0.348 NaN 1 0 2.24722e-20 0.01441 2.43599e-20 48 80 F11R 50848 broad.mit.edu 37 1 160970508 160970508 + Missense_Mutation SNP G G A rs116727809 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:160970508G>A uc009wtt.2 - 4 571 c.301C>T c.(301-303)CGG>TGG p.R101W F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.R101W|F11R_uc009wtu.2_Missense_Mutation_p.R101W|F11R_uc010pjw.1_Missense_Mutation_p.R105W|F11R_uc001fxf.3_Missense_Mutation_p.R101W NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 101 Extracellular (Potential).|Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTGTCTTCCCGTGTCACGGAC 0.542 NaN 0 0 0 0.016723 0 13 38 TNR 7143 broad.mit.edu 37 1 175334312 175334312 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:175334312G>A uc001gkp.1 - 10 2502 c.2421C>T c.(2419-2421)AAC>AAT p.N807N TNR_uc009wwu.1_Silent_p.N807N NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 807 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TGGGGCTGTAGTTAAGAATGA 0.532 NaN 0 0 0 0.010729 0 11 28 PAPPA2 60676 broad.mit.edu 37 1 176659286 176659286 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:176659286C>T uc001gkz.2 + 5 3315 c.2151C>T c.(2149-2151)CTC>CTT p.L717L PAPPA2_uc001gky.1_Silent_p.L717L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 717 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCATTGTCCTCAGCCCAGCAT 0.423 NaN 0 0 0 0.016522 0 24 60 CACNA1E 777 broad.mit.edu 37 1 181745299 181745299 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:181745299C>T uc001gow.2 + 38 5367 c.5202C>T c.(5200-5202)TCC>TCT p.S1734S CACNA1E_uc009wxs.2_Silent_p.S1622S|CACNA1E_uc001gox.1_Silent_p.S960S|CACNA1E_uc009wxt.2_Silent_p.S960S NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1734 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GGGACTCCTCCATCCTGGGGC 0.607 NaN 0 0 0 0.001168 0 6 117 RGS16 6004 broad.mit.edu 37 1 182572448 182572448 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:182572448C>A uc001gpl.3 - 2 225 c.71G>T c.(70-72)GGG>GTG p.G24V RGS16_uc010pnv.1_Missense_Mutation_p.G24V NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 24 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 AAGAAAGATCCCCAGACGTGT 0.478 NaN 1 0 3.65163e-15 0.00632 3.87316e-15 26 36 IVNS1ABP 10625 broad.mit.edu 37 1 185269206 185269206 + Nonsense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:185269206G>A uc001grl.2 - 13 2049 c.1426C>T c.(1426-1428)CAA>TAA p.Q476* IVNS1ABP_uc001gri.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc001grj.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.Q258*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Nonsense_Mutation_p.Q136* NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 476 Kelch 3. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 AGTCCTTTTTGACCATATGGA 0.323 NaN 0 0 0 0.007413 0 19 30 HMCN1 83872 broad.mit.edu 37 1 186057737 186057737 + Splice_Site SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:186057737G>C uc001grq.1 + 63 9807 c.9578_splice c.e63-1 p.E3193_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCTACCTCTAGAAAATTCTGA 0.338 NaN 0 0 0 0.006214 0 9 15 ASPM 259266 broad.mit.edu 37 1 197072405 197072405 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:197072405G>C uc001gtu.2 - 18 6233 c.5976C>G c.(5974-5976)ATC>ATG p.I1992M ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1992 IQ 13. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTTTTTTCATGATTTTCCACT 0.338 NaN 0 0 0 0.005443 0 29 80 CR2 1380 broad.mit.edu 37 1 207644106 207644106 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:207644106T>C uc001hfw.2 + 7 1341 c.1247T>C c.(1246-1248)ATC>ACC p.I416T CR2_uc001hfv.2_Missense_Mutation_p.I416T|CR2_uc009xch.2_Missense_Mutation_p.I416T|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 416 Sushi 7.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CCTCCTAACATCCTCAATGGG 0.408 NaN 0 0 0 0.006122 0 16 41 SLC30A1 7779 broad.mit.edu 37 1 211751728 211751728 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:211751728C>T uc001hio.1 - 1 372 c.227G>A c.(226-228)CGA>CAA p.R76Q NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), 76 Cytoplasmic (Potential). cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity p.R76L(1) ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) TACCTCGGCTCGGATCCAGCC 0.662 NaN 0 0 0 0.00308 0 8 13 MARK1 4139 broad.mit.edu 37 1 220825429 220825429 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:220825429C>G uc001hmn.3 + 15 2270 c.1673C>G c.(1672-1674)TCT>TGT p.S558C MARK1_uc009xdw.2_Missense_Mutation_p.S558C|MARK1_uc010pun.1_Missense_Mutation_p.S558C|MARK1_uc001hmm.3_Missense_Mutation_p.S536C NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 558 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) ATGTCCACTTCTGGTCATCCT 0.493 NaN 0 0 0 0.01892 0 25 46 EXO1 9156 broad.mit.edu 37 1 242052811 242052811 + Missense_Mutation SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:242052811T>G uc001hzh.2 + 16 2990 c.2450T>G c.(2449-2451)GTC>GGC p.V817G EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.V817G|EXO1_uc009xgq.2_Missense_Mutation_p.V816G NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 817 Interaction with MLH1.|Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CTGTCCCCAGTCAGAGATAAC 0.373 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.012319 0 22 65 SCCPDH 51097 broad.mit.edu 37 1 246927628 246927628 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:246927628T>C uc001ibr.2 + 10 1418 c.1071T>C c.(1069-1071)AAT>AAC p.N357N NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 357 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) ACAAACCAAATATCAAAATTT 0.383 NaN 0 0 0 0.013726 0 33 38 SEC61A2 55176 broad.mit.edu 37 10 12197894 12197894 + Nonsense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:12197894A>T uc001ile.2 + 7 727 c.580A>T c.(580-582)AAG>TAG p.K194* SEC61A2_uc010qbq.1_Nonsense_Mutation_p.K172*|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Nonsense_Mutation_p.K194* NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 194 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) CATTGTCTGGAAGGCCTTTAG 0.512 NaN 0 0 0 0.009718 0 45 91 RUFY2 55680 broad.mit.edu 37 10 70105549 70105549 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:70105549C>T uc001job.2 - 18 2229 c.1902G>A c.(1900-1902)CAG>CAA p.Q634Q RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Silent_p.Q189Q NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 648 nucleus metal ion binding ovary(1) 1 ATGAGCATCTCTGAATGAGCA 0.408 NaN 0 0 0 0.005443 0 29 78 CDH23 64072 broad.mit.edu 37 10 73574927 73574927 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:73574927G>C uc001jrx.3 + 68 10334 c.9957G>C c.(9955-9957)GAG>GAC p.E3319D CDH23_uc001jsg.3_Missense_Mutation_p.E1079D|CDH23_uc001jsh.3_Missense_Mutation_p.E1044D|CDH23_uc001jsi.3_Missense_Mutation_p.E1044D|CDH23_uc001jsj.3_Missense_Mutation_p.E216D|CDH23_uc010qjr.1_Missense_Mutation_p.E181D NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3319 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCGCTGCCGAGGCCACTGCCT 0.662 NaN 0 0 0 0.009096 0 4 9 AGAP5 729092 broad.mit.edu 37 10 75457454 75457454 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:75457454T>C uc009xri.2 - 1 101 c.60A>G c.(58-60)CAA>CAG p.Q20Q AGAP5_uc001juu.3_5'UTR NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 20 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CCGACCCCTGTTGCTGGTCAA 0.607 NaN 0 0 0 0.009096 0 4 62 ZMIZ1 57178 broad.mit.edu 37 10 81049571 81049571 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:81049571G>A uc001kaf.2 + 9 1037 c.465G>A c.(463-465)CAG>CAA p.Q155Q ZMIZ1_uc001kag.2_Silent_p.Q31Q|ZMIZ1_uc001kah.1_Silent_p.Q31Q NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 155 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) CTTGGCAGCAGAACACCAACC 0.592 NaN 0 0 0 0.004482 0 7 42 SNCG 6623 broad.mit.edu 37 10 88719796 88719796 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:88719796G>A uc001keb.2 + 3 369 c.202G>A c.(202-204)GAG>AAG p.E68K MMRN2_uc001kea.2_5'Flank|MMRN2_uc010qmn.1_5'Flank|MMRN2_uc009xtb.2_5'Flank NM_003087 NP_003078 O76070 SYUG_HUMAN synuclein, gamma (breast cancer-specific protein 68 E -> K (in Ref. 1; AAB64109). microtubule organizing center|perinuclear region of cytoplasm|spindle protein binding 0 CGCCGTGAGCGAGGCTGTGGT 0.677 NaN 0 0 0 0.014758 0 5 6 IFIT2 3433 broad.mit.edu 37 10 91061883 91061883 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:91061883G>A uc009xts.2 + 1 178 c.3G>A c.(1-3)ATG>ATA p.M1I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 1 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) CTGCAACCATGAGGTAAATAT 0.468 NaN 0 0 0 0.016723 0 14 36 IDE 3416 broad.mit.edu 37 10 94294474 94294474 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:94294474T>C uc001kia.2 - 3 428 c.352A>G c.(352-354)ACA>GCA p.T118A NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 118 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATTTCTTTGTTCCCAAAAAA 0.348 NaN 0 0 0 0.00499 0 18 40 CYP2C9 1559 broad.mit.edu 37 10 96707616 96707616 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:96707616G>C uc001kka.3 + 4 587 c.562G>C c.(562-564)GAT>CAT p.D188H CYP2C9_uc009xut.2_Missense_Mutation_p.D188H NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 188 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAAACGTTTTGATTATAAAGA 0.383 NaN 0 0 0 0.005443 0 28 54 TM9SF3 56889 broad.mit.edu 37 10 98307747 98307747 + Splice_Site SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:98307747C>T uc001kmm.3 - 8 1177 c.960_splice c.e8-1 p.E320_splice TM9SF3_uc010qot.1_Splice_Site_p.E320_splice|TM9SF3_uc001kmn.1_Splice_Site_p.E89_splice NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGATCCCCTCCTAAAAAGGCA 0.318 NaN 0 0 0 0.012213 0 34 42 TM9SF3 56889 broad.mit.edu 37 10 98312731 98312731 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:98312731C>T uc001kmm.3 - 6 963 c.746G>A c.(745-747)AGA>AAA p.R249K TM9SF3_uc010qot.1_Missense_Mutation_p.R249K|TM9SF3_uc001kmn.1_Missense_Mutation_p.R18K NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 249 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ATAATCTTTTCTTAATGTTCT 0.299 NaN 0 0 0 0.016723 0 13 26 PITX3 5309 broad.mit.edu 37 10 103990676 103990676 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:103990676C>T uc001kuu.1 - 4 658 c.504G>A c.(502-504)AAG>AAA p.K168K NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 168 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATGGAAAGGTCTTGGCGGCGA 0.697 NaN 0 0 0 0.001168 0 4 6 GBF1 8729 broad.mit.edu 37 10 104121532 104121532 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:104121532G>A uc001kux.1 + 14 1786 c.1546G>A c.(1546-1548)GAG>AAG p.E516K GBF1_uc001kuy.1_Missense_Mutation_p.E516K|GBF1_uc001kuz.1_Missense_Mutation_p.E517K NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 516 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GATGCCTTATGAGATGAAGGA 0.468 NaN 0 0 0 0.003954 0 26 45 OBFC1 79991 broad.mit.edu 37 10 105657330 105657330 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:105657330C>T uc001kxl.2 - 6 804 c.729G>A c.(727-729)GTG>GTA p.V243V OBFC1_uc001kxm.2_Silent_p.V243V|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 243 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) CACTGTGAATCACAGGCTGAT 0.517 NaN 0 0 0 0.010504 0 19 34 SLK 9748 broad.mit.edu 37 10 105785423 105785423 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:105785423A>G uc001kxo.1 + 19 3687 c.3653A>G c.(3652-3654)CAG>CGG p.Q1218R SLK_uc001kxp.1_Missense_Mutation_p.Q1187R NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 1218 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCATCAACACAGAGCCGGATT 0.433 NaN 0 0 0 0.008361 0 32 26 TACC2 10579 broad.mit.edu 37 10 123846947 123846947 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:123846947T>C uc001lfv.2 + 4 5292 c.4932T>C c.(4930-4932)CCT>CCC p.P1644P TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1644P|TACC2_uc010qtv.1_Silent_p.P1644P NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1644 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGACTGTGCCTGAGGCCAACA 0.592 NaN 0 0 0 0.003163 0 15 19 DMBT1 1755 broad.mit.edu 37 10 124399947 124399947 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr10:124399947A>T uc001lgk.1 + 52 7053 c.6947A>T c.(6946-6948)TAT>TTT p.Y2316F DMBT1_uc001lgl.1_Missense_Mutation_p.Y2306F|DMBT1_uc001lgm.1_Missense_Mutation_p.Y1688F|DMBT1_uc009xzz.1_Missense_Mutation_p.Y2315F|DMBT1_uc010qtx.1_Missense_Mutation_p.Y1036F|DMBT1_uc009yab.1_Missense_Mutation_p.Y1019F|DMBT1_uc009yac.1_Missense_Mutation_p.Y610F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2316 ZP. 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) TCTTTGACTTATGATCTAATC 0.448 NaN 0 0 0 0.00308 0 7 15 PHRF1 57661 broad.mit.edu 37 11 608824 608824 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:608824G>A uc001lqe.2 + 14 3499 c.3368G>A c.(3367-3369)TGC>TAC p.C1123Y PHRF1_uc010qwc.1_Missense_Mutation_p.C1122Y|PHRF1_uc010qwd.1_Missense_Mutation_p.C1121Y|PHRF1_uc010qwe.1_Missense_Mutation_p.C1119Y|PHRF1_uc009ybz.1_Missense_Mutation_p.C913Y|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1123 Arg-rich. RNA polymerase binding|zinc ion binding 0 GGAAGGGAGTGCTCCCCCACC 0.632 NaN 0 0 0 0.009096 0 4 29 DCHS1 8642 broad.mit.edu 37 11 6643027 6643027 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:6643027T>C uc001mem.1 - 21 10290 c.9880A>G c.(9880-9882)ACG>GCG p.T3294A TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3294 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGCTCCGTGTCATCAGGT 0.667 NaN 0 0 0 0.006214 0 9 11 DENND5A 23258 broad.mit.edu 37 11 9167352 9167352 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:9167352G>A uc001mhl.2 - 17 3123 c.2868C>T c.(2866-2868)TAC>TAT p.Y956Y DENND5A_uc001mhk.2_Silent_p.Y299Y|DENND5A_uc010rbw.1_Silent_p.Y956Y|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 956 PLAT. liver(1) 1 TCAGAATGTGGTACGGGATCA 0.498 NaN 0 0 0 0.01441 0 179 234 BTBD10 84280 broad.mit.edu 37 11 13410595 13410595 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:13410595G>T uc001mkz.2 - 9 1468 c.1211C>A c.(1210-1212)TCC>TAC p.S404Y BTBD10_uc010rcl.1_Missense_Mutation_p.S412Y|BTBD10_uc001mla.2_Missense_Mutation_p.S388Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S356Y NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 404 nucleus 0 Epithelial(150;0.0214) CTTCTCCCAGGACATTCGAAT 0.448 NaN 1 0 1.7489e-18 0.011902 1.87704e-18 43 105 TPH1 7166 broad.mit.edu 37 11 18048081 18048081 + Silent SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:18048081A>C uc001mnp.2 - 6 785 c.759T>G c.(757-759)ACT>ACG p.T253T TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 253 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TCACATATTGAGTGCAGTGAA 0.413 NaN 0 0 0 0.009718 0 43 50 OR8J1 219477 broad.mit.edu 37 11 56127857 56127857 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:56127857C>T uc010rjh.1 + 1 135 c.135C>T c.(133-135)ATC>ATT p.I45I NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACCTGGGCATCATCACCCTCA 0.498 NaN 0 0 0 0.01441 0 58 81 OR9Q1 219956 broad.mit.edu 37 11 57947216 57947216 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:57947216G>A uc001nmj.2 + 3 616 c.300G>A c.(298-300)CAG>CAA p.Q100Q NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) GTGCTGCTCAGTTCTTTCTGT 0.532 NaN 0 0 0 0.01441 0 53 79 MS4A6E 245802 broad.mit.edu 37 11 60105401 60105401 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:60105401G>A uc001npd.2 + 2 349 c.335G>A c.(334-336)AGA>AAA p.R112K NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 112 Extracellular (Potential). integral to membrane receptor activity 0 GACTGCCATAGAGCCAAAGCC 0.373 NaN 0 0 0 0.013726 0 36 56 AHNAK 79026 broad.mit.edu 37 11 62301534 62301534 + Nonsense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:62301534C>A uc001ntl.2 - 5 655 c.355G>T c.(355-357)GAG>TAG p.E119* AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 119 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGTACTCCTCATCATCCCCG 0.602 NaN 1 0 3.86212e-05 0.008291 3.96452e-05 11 22 TAF6L 10629 broad.mit.edu 37 11 62553845 62553845 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:62553845C>T uc001nvc.2 + 10 1175 c.1074C>T c.(1072-1074)GTC>GTT p.V358V TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 358 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 GACACAAAGTCTATGGAGCCA 0.512 NaN OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 27 123 MRPL48 51642 broad.mit.edu 37 11 73498985 73498985 + Translation_Start_Site SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:73498985T>A uc001ouh.3 + 1 69 c.-31T>A c.(-33--29)GTTTG>GTATG MRPL48_uc009ytt.2_Translation_Start_Site|MRPL48_uc010rri.1_Translation_Start_Site|MRPL48_uc009ytu.2_Translation_Start_Site NM_016055 NP_057139 Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 precursor translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 GGTCTTCGGTTTGCACAGCTA 0.612 NaN 0 0 0 0.016723 0 13 16 DNAJB13 374407 broad.mit.edu 37 11 73681096 73681096 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:73681096C>T uc001ouo.2 + 8 1639 c.888C>T c.(886-888)ATC>ATT p.I296I NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 296 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) TCTTCGACATCCAGTTCCCCA 0.577 NaN 0 0 0 0.007291 0 29 150 POLD3 10714 broad.mit.edu 37 11 74323962 74323962 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:74323962T>C uc001ovf.1 + 5 374 c.299T>C c.(298-300)GTG>GCG p.V100A POLD3_uc009yua.1_5'UTR NM_006591 NP_006582 Q15054 DPOD3_HUMAN DNA-directed DNA polymerase delta 3 100 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|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 delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding kidney(2)|ovary(1) 3 Breast(11;3.21e-06) AGCATCCATGTGTACAGCATC 0.453 NaN 0 0 0 0.01441 0 60 74 TRPC6 7225 broad.mit.edu 37 11 101359784 101359784 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:101359784C>G uc001pgk.3 - 4 1602 c.1177G>C c.(1177-1179)GAG>CAG p.E393Q TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 393 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GAAAGATTCTCATACCAAATG 0.433 NaN 0 0 0 0.003954 0 25 40 PPP2R1B 5519 broad.mit.edu 37 11 111636068 111636068 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:111636068A>G uc001plx.1 - 2 239 c.155T>C c.(154-156)CTA>CCA p.L52P PPP2R1B_uc001plw.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.L52P NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 52 HEAT 1. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TCCAAGTGCTAGGGCAATTGT 0.363 NaN 0 0 0 0.01441 0 48 92 FDXACB1 91893 broad.mit.edu 37 11 111749797 111749797 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:111749797C>T uc001pmc.3 - 1 357 c.60G>A c.(58-60)CTG>CTA p.L20L ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 20 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 GGGTTTCGCTCAGAGCGGCGG 0.667 NaN OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 34 MLL 4297 broad.mit.edu 37 11 118374637 118374637 + Nonsense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:118374637C>G uc001pta.2 + 27 8044 c.8021C>G c.(8020-8022)TCA>TGA p.S2674* MLL_uc001ptb.2_Nonsense_Mutation_p.S2677* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2674 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TTAAGCACTTCAGATGAAGAC 0.463 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.004656 0 26 37 B4GALNT3 283358 broad.mit.edu 37 12 569632 569632 + Silent SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:569632C>A uc001qii.1 + 1 90 c.90C>A c.(88-90)GCC>GCA p.A30A NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 30 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGGCGCTCGCCGTGGTGTCTG 0.542 NaN 1 0 0.000602214 0.014758 0.000611236 3 5 DYRK4 8798 broad.mit.edu 37 12 4702231 4702231 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:4702231C>T uc001qmx.2 + 4 342 c.182C>T c.(181-183)GCG>GTG p.A61V DYRK4_uc009zeh.1_Missense_Mutation_p.A176V|DYRK4_uc001qmy.1_Missense_Mutation_p.A61V NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 61 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) CTGGGCTACGCGGAGCTGTGG 0.458 NaN 0 0 0 0.007291 0 29 101 NCAPD2 9918 broad.mit.edu 37 12 6637881 6637881 + Silent SNP G G A rs149244253 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:6637881G>A uc001qoo.2 + 26 3382 c.3336G>A c.(3334-3336)GCG>GCA p.A1112A NCAPD2_uc010sfd.1_Silent_p.A1067A NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1112 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 GGAAAACAGCGGGGCTGGTGA 0.597 NaN 0 0 0 0.00308 0 8 68 PTPN6 5777 broad.mit.edu 37 12 7064630 7064630 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:7064630C>T uc001qsb.2 + 6 971 c.729C>T c.(727-729)GGC>GGT p.G243G PTPN6_uc001qsa.1_Silent_p.G245G|PTPN6_uc010sfr.1_Silent_p.G204G|PTPN6_uc009zfl.1_Silent_p.G243G|PTPN6_uc010sfs.1_Silent_p.G231G NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 243 apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 CCAAGGCTGGCTTCTGGGAGG 0.632 NaN 0 0 0 0.006122 0 19 109 C12orf36 283422 broad.mit.edu 37 12 13526188 13526188 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:13526188C>G uc001rbs.1 - 3 585 c.367G>C c.(367-369)GAG>CAG p.E123Q NM_182558 NP_872364 hypothetical protein LOC283422 0 BRCA - Breast invasive adenocarcinoma(232;0.198) ACATCTTCCTCAATTTTCTGC 0.408 NaN 0 0 0 0.013726 0 30 95 C12orf77 196415 broad.mit.edu 37 12 25149195 25149195 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:25149195G>C uc001rgf.2 - 2 287 c.82C>G c.(82-84)CAA>GAA p.Q28E NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 28 0 TCCAGAATTTGAATATTATTT 0.443 NaN 0 0 0 0.00245 0 14 71 TMTC1 83857 broad.mit.edu 37 12 29786270 29786270 + Splice_Site SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:29786270C>A uc001rjb.2 - 6 1089 c.615_splice c.e6-1 p.R205_splice TMTC1_uc001riz.2_Splice_Site|TMTC1_uc001rja.2_Splice_Site_p.R49_splice|TMTC1_uc001rjc.1_Splice_Site_p.R267_splice NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGTGAGGAATCTATAAAGAGA 0.443 NaN 1 0 1.96292e-10 0.010504 2.06183e-10 22 35 LRRK2 120892 broad.mit.edu 37 12 40687375 40687375 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:40687375G>C uc001rmg.3 + 21 2839 c.2718G>C c.(2716-2718)AAG>AAC p.K906N LRRK2_uc001rmh.1_Missense_Mutation_p.K528N|LRRK2_uc009zjw.2_5'Flank NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 906 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGTGAAAAAGAAATCTAATT 0.323 NaN 0 0 0 0.003163 0 15 12 LRRK2 120892 broad.mit.edu 37 12 40728880 40728880 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:40728880C>T uc001rmg.3 + 40 5990 c.5869C>T c.(5869-5871)CGC>TGC p.R1957C LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1957 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.R1957C(1)|p.R1964C(1) ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTCCTTGGATCGCCTGCTTCA 0.527 NaN 0 0 0 0.00499 0 16 53 CNTN1 1272 broad.mit.edu 37 12 41337465 41337465 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:41337465T>C uc001rmm.1 + 13 1559 c.1446T>C c.(1444-1446)TAT>TAC p.Y482Y CNTN1_uc009zjy.1_Silent_p.Y482Y|CNTN1_uc001rmn.1_Silent_p.Y471Y|CNTN1_uc001rmo.2_Silent_p.Y482Y NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 482 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGGTATCTATACATGCTTTG 0.333 NaN 0 0 0 0.012319 0 18 55 SLC38A2 54407 broad.mit.edu 37 12 46757568 46757568 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:46757568A>C uc001rpg.2 - 12 1435 c.995T>G c.(994-996)TTT>TGT p.F332C SLC38A2_uc010sli.1_Missense_Mutation_p.F170C|SLC38A2_uc001rph.2_Missense_Mutation_p.F232C NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 332 Helical; (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CATAGCAAAAAATGAAATCTT 0.343 NaN 0 0 0 0.01892 0 25 28 C1QL4 338761 broad.mit.edu 37 12 49726986 49726986 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:49726986C>G uc001rtz.1 - 2 1279 c.568G>C c.(568-570)GAC>CAC p.D190H NM_001008223 NP_001008224 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 190 C1q. collagen 0 TAGTTCTGGTCCGCGTCCTGA 0.637 NaN 0 0 0 0.013537 0 11 24 LIMA1 51474 broad.mit.edu 37 12 50571654 50571654 + Silent SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:50571654T>A uc001rwj.3 - 11 1647 c.1473A>T c.(1471-1473)CCA>CCT p.P491P LIMA1_uc001rwg.3_Silent_p.P189P|LIMA1_uc001rwh.3_Silent_p.P330P|LIMA1_uc001rwi.3_Silent_p.P332P|LIMA1_uc001rwk.3_Silent_p.P492P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 491 P -> Q (in Ref. 2; AAF67491). actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 CTTCTACCCCTGGGCTGTGAG 0.522 NaN 0 0 0 0.013726 0 33 107 DIP2B 57609 broad.mit.edu 37 12 51065124 51065124 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:51065124G>A uc001rwv.2 + 5 739 c.583G>A c.(583-585)GGA>AGA p.G195R DIP2B_uc001rwu.2_Missense_Mutation_p.G195R|DIP2B_uc009zls.1_Missense_Mutation_p.G77R NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 195 Ser-rich. nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GCTGTCCCACGGAGAGGTCAA 0.483 NaN 0 0 0 0.01441 0 60 43 SCN8A 6334 broad.mit.edu 37 12 52115497 52115497 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:52115497C>G uc001ryw.2 + 12 1981 c.1803C>G c.(1801-1803)CTC>CTG p.L601L SCN8A_uc010snl.1_Silent_p.L466L|SCN8A_uc001ryx.1_Silent_p.L466L|SCN8A_uc001ryz.1_Silent_p.L466L|SCN8A_uc001ryy.2_Silent_p.L466L NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 601 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGGACTCCCTCTTCATCCCCA 0.622 NaN 0 0 0 0.014758 0 5 11 PA2G4 5036 broad.mit.edu 37 12 56500804 56500804 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:56500804A>G uc001sjm.2 + 3 667 c.248A>G c.(247-249)AAT>AGT p.N83S PA2G4_uc009zol.2_Missense_Mutation_p.N83S|PA2G4_uc009zom.2_Missense_Mutation_p.N83S NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 83 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) ATTTCGGTAAATAACTGTGTA 0.428 NaN 0 0 0 0.00632 0 29 69 PIP4K2C 79837 broad.mit.edu 37 12 57992965 57992965 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:57992965C>T uc001sou.2 + 5 762 c.631C>T c.(631-633)CTT>TTT p.L211F PIP4K2C_uc001sot.2_Missense_Mutation_p.L211F|PIP4K2C_uc010srs.1_Missense_Mutation_p.L193F|PIP4K2C_uc010srt.1_Missense_Mutation_p.L163F NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 211 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) TAGCCACCGTCTTCCTGTGCA 0.537 NaN 0 0 0 0.006122 0 18 36 SLC16A7 9194 broad.mit.edu 37 12 60168667 60168667 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:60168667C>G uc001sqs.2 + 5 890 c.591C>G c.(589-591)CCC>CCG p.P197P SLC16A7_uc001sqt.2_Silent_p.P197P|SLC16A7_uc001squ.2_Silent_p.P197P|SLC16A7_uc009zqi.2_Silent_p.P98P|SLC16A7_uc010ssi.1_Silent_p.P98P NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 197 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TCATGAGACCCCTTGGACCCA 0.403 NaN 0 0 0 0.008361 0 30 18 GRIP1 23426 broad.mit.edu 37 12 66932910 66932910 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:66932910C>G uc001stk.2 - 4 607 c.366G>C c.(364-366)AAG>AAC p.K122N GRIP1_uc010sta.1_Missense_Mutation_p.K66N|GRIP1_uc001stl.1_Missense_Mutation_p.K66N|GRIP1_uc001stm.2_Missense_Mutation_p.K122N NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 122 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CTCCCACATTCTTCAGCAAGC 0.378 NaN 0 0 0 0.004482 0 6 117 NTN4 59277 broad.mit.edu 37 12 96077360 96077360 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:96077360C>T uc001tei.2 - 6 1757 c.1308G>A c.(1306-1308)GTG>GTA p.V436V NTN4_uc009ztf.2_Silent_p.V436V|NTN4_uc009ztg.2_Silent_p.V399V NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 436 Laminin EGF-like 3. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 CCCAGTATCCCACCATGCACC 0.597 NaN 0 0 0 0.013537 0 12 30 C12orf63 374467 broad.mit.edu 37 12 97114276 97114276 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:97114276G>C uc001tet.1 + 17 2251 c.2173G>C c.(2173-2175)GAG>CAG p.E725Q NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 725 skin(6)|ovary(1) 7 TGGCGAGCTGGAGATTGTGGT 0.587 NaN 0 0 0 0.014758 0 5 10 ANKS1B 56899 broad.mit.edu 37 12 100377945 100377945 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:100377945G>T uc001tge.1 - 1 488 c.71C>A c.(70-72)TCT>TAT p.S24Y ANKS1B_uc001tgf.1_Translation_Start_Site|ANKS1B_uc009ztt.1_Missense_Mutation_p.S24Y NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 24 ANK 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTCCTGCCAGACAGGAGTTT 0.612 NaN 1 0 0.000602214 0.014758 0.000611236 5 16 UTP20 27340 broad.mit.edu 37 12 101685532 101685532 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:101685532G>A uc001tia.1 + 9 1060 c.904G>A c.(904-906)GAT>AAT p.D302N NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 302 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ATCGCTCTTGGATCTACACAC 0.328 NaN 0 0 0 0.006214 0 8 20 UBE3B 89910 broad.mit.edu 37 12 109935699 109935699 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:109935699G>A uc001top.2 + 10 1393 c.790G>A c.(790-792)GTG>ATG p.V264M UBE3B_uc001toq.2_Missense_Mutation_p.V264M|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.V264M NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 264 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GCCTGCTCTGGTGACTCATCT 0.468 NaN 0 0 0 0.014323 0 23 46 IFT81 28981 broad.mit.edu 37 12 110643430 110643430 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:110643430G>C uc001tqi.2 + 17 1877 c.1747G>C c.(1747-1749)GAT>CAT p.D583H IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 583 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 TCGTGCTACTGATGAGATGAA 0.313 NaN 0 0 0 0.009535 0 32 75 RAD9B 144715 broad.mit.edu 37 12 110956514 110956514 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:110956514T>C uc001trf.3 + 7 767 c.629T>C c.(628-630)GTT>GCT p.V210A RAD9B_uc001trg.3_Missense_Mutation_p.V210A|RAD9B_uc010sya.1_Missense_Mutation_p.V141A|RAD9B_uc001tre.3_Missense_Mutation_p.V138A|RAD9B_uc001trd.3_Missense_Mutation_p.V52A NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN RAD9 homolog B 207 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding pancreas(1)|skin(1) 2 GAGATGTTTGTTGGCTCAGAT 0.289 NaN 0 0 0 0.006214 0 10 23 RNF10 9921 broad.mit.edu 37 12 120995374 120995374 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:120995374T>C uc001typ.3 + 6 1339 c.856T>C c.(856-858)TAT>CAT p.Y286H RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.Y192H NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 286 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCACATCAGTATGTTGTTGG 0.448 NaN 0 0 0 0.005524 0 38 77 TMEM120B 144404 broad.mit.edu 37 12 122213008 122213008 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:122213008C>G uc001ubc.3 + 11 1022 c.878C>G c.(877-879)TCC>TGC p.S293C TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 293 integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TTTGAGCTCTCCAGCCACGAG 0.517 NaN 0 0 0 0.016723 0 12 14 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 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) ATTTTCTTTTCCTGCAGAGAC 0.493 NaN 0 0 0 0.00874 0 17 120 MPHOSPH9 10198 broad.mit.edu 37 12 123645694 123645694 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:123645694C>G uc001uel.2 - 18 3021 c.2914G>C c.(2914-2916)GAA>CAA p.E972Q MPHOSPH9_uc010tal.1_Missense_Mutation_p.E426Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E426Q NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 972 Potential. M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TGGTCCTTTTCTTTTGTAAGT 0.343 NaN 0 0 0 0.004007 0 16 34 MPHOSPH9 10198 broad.mit.edu 37 12 123645916 123645916 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:123645916C>T uc001uel.2 - 18 2799 c.2692G>A c.(2692-2694)GAG>AAG p.E898K MPHOSPH9_uc010tal.1_Missense_Mutation_p.E352K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E352K NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 898 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GTGGCTTTCTCAGAATAAGTT 0.373 NaN 0 0 0 0.004656 0 24 69 MPHOSPH9 10198 broad.mit.edu 37 12 123645931 123645931 + Splice_Site SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:123645931C>G uc001uel.2 - 18 2785 c.2678_splice c.e18-1 p.E893_splice MPHOSPH9_uc010tal.1_Splice_Site_p.E347_splice|MPHOSPH9_uc010tam.1_Splice_Site|MPHOSPH9_uc001uem.2_Splice_Site_p.E347_splice NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TAAGTTTTTTCTGTCAGAGAG 0.368 NaN 0 0 0 0.003954 0 23 61 CENPJ 55835 broad.mit.edu 37 13 25484207 25484207 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:25484207C>T uc001upt.3 - 4 839 c.586G>A c.(586-588)GAT>AAT p.D196N CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 196 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTCTGATCATCAGGCAGTAAA 0.478 NaN 0 0 0 0.01441 0 50 59 LPAR6 10161 broad.mit.edu 37 13 48985570 48985570 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:48985570T>C uc010acu.2 - 1 2084 c.990A>G c.(988-990)CTA>CTG p.L330L RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.L330L|LPAR6_uc001vcf.2_Silent_p.L330L NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 330 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 TTAAGGTCTGTAGGTTATGCT 0.358 NaN 0 0 0 0.01441 0 66 22 PCDH9 5101 broad.mit.edu 37 13 67799881 67799881 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:67799881C>T uc001vik.2 - 2 3384 c.2692G>A c.(2692-2694)GAA>AAA p.E898K PCDH9_uc001vil.2_Missense_Mutation_p.E898K|PCDH9_uc010thl.1_Missense_Mutation_p.E898K|PCDH9_uc001vin.3_Missense_Mutation_p.E898K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 898 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTGATAGGTTCATGAACTGCA 0.438 NaN 0 0 0 0.01441 0 82 113 PCDH9 5101 broad.mit.edu 37 13 67800603 67800603 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:67800603G>C uc001vik.2 - 2 2662 c.1970C>G c.(1969-1971)TCT>TGT p.S657C PCDH9_uc001vil.2_Missense_Mutation_p.S657C|PCDH9_uc010thl.1_Missense_Mutation_p.S657C|PCDH9_uc001vin.3_Missense_Mutation_p.S657C NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 657 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTTTGCAGTAGAGGAACGAGG 0.438 NaN 0 0 0 0.006999 0 41 137 SLITRK1 114798 broad.mit.edu 37 13 84455102 84455102 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:84455102G>A uc001vlk.2 - 1 1427 c.541C>T c.(541-543)CAC>TAC p.H181Y NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 181 Extracellular (Potential).|LRR 6. 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) AGGTCGAGGTGGGTGATGGGC 0.537 NaN 0 0 0 0.01441 0 55 97 GPC5 2262 broad.mit.edu 37 13 92345689 92345689 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:92345689G>A uc010tif.1 + 3 940 c.574G>A c.(574-576)GAA>AAA p.E192K NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 192 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GGAATACTCAGAATGCATCCG 0.483 NaN 0 0 0 0.01441 0 57 111 FARP1 10160 broad.mit.edu 37 13 99083499 99083499 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:99083499A>C uc001vnj.2 + 18 2444 c.2108A>C c.(2107-2109)CAC>CCC p.H703P FARP1_uc001vnh.2_Missense_Mutation_p.H703P NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 703 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGCAAACACCACCCGCCGAGC 0.647 NaN 0 0 0 0.006214 0 4 10 ZIC2 7546 broad.mit.edu 37 13 100634397 100634397 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:100634397G>A uc001von.2 + 1 79 c.79G>A c.(79-81)GCG>ACG p.A27T NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 27 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTccgccgcggcggcggcggc 0.612 NaN 0 0 0 0.014758 0 4 4 MYO16 23026 broad.mit.edu 37 13 109858981 109858981 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:109858981G>C uc001vqt.1 + 35 5500 c.5374G>C c.(5374-5376)GAG>CAG p.E1792Q MYO16_uc010agk.1_Missense_Mutation_p.E1814Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1792 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) GAGGCTCTCAGAGAATGAAAG 0.512 NaN 0 0 0 0.00499 0 18 100 IRS2 8660 broad.mit.edu 37 13 110434606 110434606 + Silent SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:110434606T>G uc001vqv.2 - 1 4309 c.3795A>C c.(3793-3795)CCA>CCC p.P1265P NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1265 Poly-Pro. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) gcggctggggtggcagcCCGG 0.512 NaN 0 0 0 0.007413 0 11 24 ARHGAP5 394 broad.mit.edu 37 14 32562753 32562753 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:32562753C>G uc001wrl.2 + 2 3117 c.2878C>G c.(2878-2880)CAA>GAA p.Q960E ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 960 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCAACCCATCAAAGTGAAGA 0.358 NaN 0 0 0 0.01441 0 53 44 INSM2 84684 broad.mit.edu 37 14 36004326 36004326 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:36004326G>C uc001wth.1 + 1 1079 c.868G>C c.(868-870)GAG>CAG p.E290Q NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) CGTGCGCGTAGAGTACCGCTG 0.672 NaN 0 0 0 0.010504 0 21 27 KLHL28 54813 broad.mit.edu 37 14 45414407 45414407 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:45414407T>C uc001wvq.2 - 2 971 c.725A>G c.(724-726)CAT>CGT p.H242R KLHL28_uc001wvr.2_Missense_Mutation_p.H242R|KLHL28_uc001wvt.3_Missense_Mutation_p.H242R NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 242 ovary(1) 1 ACGAATAAGATGATTTGCTTC 0.373 NaN 0 0 0 0.016522 0 24 66 HSPA2 3306 broad.mit.edu 37 14 65008896 65008896 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:65008896G>A uc001xhj.2 + 2 1405 c.1329G>A c.(1327-1329)GTG>GTA p.V443V HSPA2_uc001xhk.3_Silent_p.V443V NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 443 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GCGTACTGGTGCAGGTATACG 0.607 NaN 0 0 0 0.013537 0 13 82 PLEKHG3 26030 broad.mit.edu 37 14 65197646 65197646 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:65197646C>G uc001xho.1 + 6 965 c.696C>G c.(694-696)CTC>CTG p.L232L PLEKHG3_uc001xhn.1_Silent_p.L176L|PLEKHG3_uc001xhp.2_Silent_p.L232L|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 232 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCGCATCCTCAAGTACCACC 0.642 NaN 0 0 0 0.010504 0 21 66 MPP5 64398 broad.mit.edu 37 14 67787792 67787792 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:67787792G>A uc001xjc.2 + 13 2022 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q MPP5_uc001xjd.2_Missense_Mutation_p.R485Q|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 519 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) CGGAGTAGGCGAGACCAAGAA 0.448 NaN 0 0 0 0.00623 0 39 71 GOLGA5 9950 broad.mit.edu 37 14 93273263 93273263 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:93273263C>G uc001yaz.1 + 3 909 c.727C>G c.(727-729)CAA>GAA p.Q243E NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 243 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GTCTTTAAATCAAGAAATGGC 0.378 NaN T RET papillary thyroid 0 0 0 0.016723 0 14 70 KIAA1409 57578 broad.mit.edu 37 14 94156520 94156520 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:94156520G>A uc001ybv.1 + 44 6878 c.6795G>A c.(6793-6795)CTG>CTA p.L2265L KIAA1409_uc001ybs.1_Silent_p.L2243L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2420 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GGCTGCTGCTGGGTTCCCTCA 0.473 NaN 0 0 0 0.006999 0 41 63 DDX24 57062 broad.mit.edu 37 14 94528602 94528602 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:94528602C>T uc001ycj.2 - 3 1183 c.1084G>A c.(1084-1086)GAT>AAT p.D362N DDX24_uc010twq.1_Missense_Mutation_p.D319N|DDX24_uc010twr.1_Missense_Mutation_p.D112N NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 362 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TGCTCTTTATCAAGATTTTCC 0.483 NaN 0 0 0 0.01441 0 50 105 EML1 2009 broad.mit.edu 37 14 100380990 100380990 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:100380990T>C uc001ygs.2 + 15 1777 c.1708T>C c.(1708-1710)TGG>CGG p.W570R EML1_uc010tww.1_Missense_Mutation_p.W558R|EML1_uc001ygr.2_Missense_Mutation_p.W589R NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 570 WD 6. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) TGCCACTCTCTGGGACGCTGT 0.463 NaN 0 0 0 0.00499 0 18 36 CDC42BPB 9578 broad.mit.edu 37 14 103465928 103465928 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:103465928G>A uc001ymi.1 - 5 802 c.570C>T c.(568-570)TCC>TCT p.S190S NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 190 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCTGATGGATGGAGTCAATGG 0.448 NaN 0 0 0 0.01441 0 54 85 XRCC3 7517 broad.mit.edu 37 14 104165252 104165252 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:104165252G>A uc001yny.3 - 10 1304 c.924C>T c.(922-924)CTC>CTT p.L308L KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L308L|XRCC3_uc001ynz.3_Silent_p.L308L|XRCC3_uc001yoa.3_Silent_p.L308L NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 308 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CTGGGCAGCCGAGGGCAGCCT 0.672 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.001984 0 7 5 KIAA0284 283638 broad.mit.edu 37 14 105360120 105360120 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:105360120T>C uc010axb.2 + 16 4429 c.4205T>C c.(4204-4206)CTG>CCG p.L1402P INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1332P|KIAA0284_uc001yps.2_Missense_Mutation_p.L1343P|KIAA0284_uc001ypt.2_Missense_Mutation_p.L70P NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1437 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) AACCTGATGCTGAACCCGGTG 0.657 NaN 0 0 0 0.006214 0 10 12 CDCA4 55038 broad.mit.edu 37 14 105477759 105477759 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:105477759C>G uc001yqa.2 - 2 604 c.508G>C c.(508-510)GAG>CAG p.E170Q CDCA4_uc001yqb.2_Missense_Mutation_p.E170Q NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 170 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TTTTTAGTCTCCAGCGTTTCA 0.547 NaN 0 0 0 0.004482 0 7 70 BRF1 2972 broad.mit.edu 37 14 105685546 105685546 + Silent SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr14:105685546G>C uc001yqp.2 - 13 1764 c.1401C>G c.(1399-1401)GCC>GCG p.A467A BRF1_uc010tyo.1_Silent_p.A352A|BRF1_uc010typ.1_Silent_p.A374A|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.A263A|BRF1_uc001yqo.2_Silent_p.A229A|BRF1_uc010axg.1_Silent_p.A440A|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 467 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CCTTCACGCGGGCTTCCGACT 0.647 NaN 0 0 0 0.015359 0 32 57 APBA2 321 broad.mit.edu 37 15 29400577 29400577 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:29400577C>T uc001zck.2 + 12 2229 c.2022C>T c.(2020-2022)AGC>AGT p.S674S APBA2_uc010azj.2_Silent_p.S662S|APBA2_uc010uat.1_Silent_p.S662S|APBA2_uc001zcl.2_Silent_p.S662S NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 674 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGGCTTCAGCGTGCAGAATG 0.607 NaN 0 0 0 0.00632 0 27 90 FSIP1 161835 broad.mit.edu 37 15 39910077 39910077 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:39910077C>T uc001zki.2 - 11 1776 c.1558G>A c.(1558-1560)GAC>AAC p.D520N NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 520 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) ATAAAATAGTCTTTTGTGTCA 0.408 NaN 0 0 0 0.01441 0 55 52 EIF2AK4 440275 broad.mit.edu 37 15 40268620 40268620 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:40268620G>A uc001zkm.1 + 12 1874 c.1824G>A c.(1822-1824)CAG>CAA p.Q608Q EIF2AK4_uc010bbj.1_Silent_p.Q337Q NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 608 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CGCAGGTGCAGAACAAGTTGG 0.617 NaN 0 0 0 0.012319 0 22 20 INO80 54617 broad.mit.edu 37 15 41319809 41319809 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:41319809A>G uc001zni.2 - 25 3246 c.3033T>C c.(3031-3033)TGT>TGC p.C1011C INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1011 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 GACTGGCCACACACAAAAAAG 0.473 NaN 0 0 0 0.016723 0 13 37 MGA 23269 broad.mit.edu 37 15 42003336 42003336 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:42003336C>G uc001zog.1 + 8 2964 c.2873C>G c.(2872-2874)ACT>AGT p.T958S MGA_uc010ucy.1_Missense_Mutation_p.T958S|MGA_uc010ucz.1_Missense_Mutation_p.T958S NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 958 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTTGTGCCAACTTTGGATGAA 0.433 NaN 0 0 0 0.004656 0 25 101 PLA2G4D 283748 broad.mit.edu 37 15 42374548 42374548 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:42374548C>T uc001zox.2 - 9 807 c.712G>A c.(712-714)GGG>AGG p.G238R NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 238 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GTGAGGTACCCAGCTGAGTTG 0.448 NaN 0 0 0 0.007413 0 17 47 ELL3 80237 broad.mit.edu 37 15 44067580 44067580 + Splice_Site SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:44067580C>T uc001zsw.1 - 6 973 c.570_splice c.e6-1 p.R190_splice ELL3_uc001zsv.1_Splice_Site_p.R144_splice|ELL3_uc001zsx.1_Splice_Site_p.R75_splice|uc001zsy.2_5'Flank NM_025165 NP_079441 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex ovary(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GGTCTGGCTTCTAGGATATTT 0.458 NaN OREG0023092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003163 0 15 18 SEMA6D 80031 broad.mit.edu 37 15 48063558 48063558 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:48063558C>T uc010bek.2 + 19 3158 c.2798C>T c.(2797-2799)CCT>CTT p.P933L SEMA6D_uc001zvw.2_Missense_Mutation_p.P871L|SEMA6D_uc001zvy.2_Missense_Mutation_p.P933L|SEMA6D_uc001zvz.2_Missense_Mutation_p.P877L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P871L|SEMA6D_uc001zwc.2_Missense_Mutation_p.P858L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 933 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TACTCCCCTCCTTCAACTCTC 0.517 NaN 0 0 0 0.01441 0 48 127 ONECUT1 3175 broad.mit.edu 37 15 53081358 53081358 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:53081358C>A uc002aci.1 - 1 852 c.724G>T c.(724-726)GTG>TTG p.V242L NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 242 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) TTGATGGGCACCATGCCGGCC 0.706 NaN 1 0 4.25531e-23 0.01441 4.64996e-23 54 50 DPP8 54878 broad.mit.edu 37 15 65782623 65782623 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:65782623C>G uc002aov.2 - 6 2356 c.778G>C c.(778-780)GAA>CAA p.E260Q DPP8_uc002aow.2_Missense_Mutation_p.E260Q|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E244Q|DPP8_uc002aoy.2_Missense_Mutation_p.E260Q|DPP8_uc002aoz.2_Missense_Mutation_p.E244Q|DPP8_uc010bhj.2_Missense_Mutation_p.E260Q|DPP8_uc002apa.2_Missense_Mutation_p.E157Q|DPP8_uc010bhk.1_Missense_Mutation_p.E2Q NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 260 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 GCATCTTCTTCCATGTTGGCT 0.353 NaN 0 0 0 0.008291 0 11 54 DIS3L 115752 broad.mit.edu 37 15 66587330 66587330 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:66587330G>A uc010ujm.1 + 2 159 c.144G>A c.(142-144)GGG>GGA p.G48G DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Silent_p.G48G|DIS3L_uc010bho.2_5'UTR NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 48 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TTTCAGATGGGAAACTCTTGT 0.368 NaN 0 0 0 0.016723 0 14 25 DIS3L 115752 broad.mit.edu 37 15 66587451 66587451 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:66587451C>G uc010ujm.1 + 2 280 c.265C>G c.(265-267)CAA>GAA p.Q89E DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q6E|DIS3L_uc002apq.2_Missense_Mutation_p.Q89E|DIS3L_uc010bho.2_5'UTR NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 89 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 GACAGCTTGTCAAGCTGTGCA 0.433 NaN 0 0 0 0.007291 0 28 68 HCN4 10021 broad.mit.edu 37 15 73615332 73615332 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:73615332G>A uc002avp.2 - 8 4096 c.3102C>T c.(3100-3102)CCC>CCT p.P1034P NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1034 Pro-rich.|Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) AGGTTCTTGGGGGGCCTGGGC 0.721 NaN 0 0 0 0.004672 0 3 3 ARID3B 10620 broad.mit.edu 37 15 74836783 74836783 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:74836783C>T uc002aye.2 + 2 707 c.506C>T c.(505-507)TCC>TTC p.S169F ARID3B_uc002ayc.2_Missense_Mutation_p.S169F|ARID3B_uc002ayd.2_Missense_Mutation_p.S169F NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 CCTTCTGTCTCCACAGCAGGA 0.522 NaN 0 0 0 0.013537 0 11 30 C15orf39 56905 broad.mit.edu 37 15 75498410 75498410 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:75498410G>A uc002azp.3 + 2 341 c.21G>A c.(19-21)CTG>CTA p.L7L C15orf39_uc002azq.3_Silent_p.L7L|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 7 0 AGCGACCCCTGAGAACCCTGG 0.602 NaN 0 0 0 0.008291 0 11 8 ADAMTSL3 57188 broad.mit.edu 37 15 84539658 84539658 + Missense_Mutation SNP G G A rs139499552 by1000genomes TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:84539658G>A uc002bjz.3 + 9 1131 c.907G>A c.(907-909)GAG>AAG p.E303K ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E303K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E303K NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 303 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGGGCTCCGAGAGGCAAAC 0.438 NaN 0 0 0 0.01441 0 55 42 HBA2 3040 broad.mit.edu 37 16 227392 227392 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:227392G>A uc002cfw.2 + 3 477 c.411G>A c.(409-411)CTG>CTA p.L137L HBA1_uc002cfx.1_Silent_p.L137L|HBA1_uc002cfy.1_Silent_p.L105L|HBQ1_uc002cfz.2_5'Flank NM_000558 NP_000549 P69905 HBA_HUMAN alpha 1 globin 137 L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> M (in Chicago).|L -> R (in Toyama). hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) GCACCGTGCTGACCTCCAAAT 0.672 NaN OREG0003687 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.00308 0 8 10 RHBDL1 9028 broad.mit.edu 37 16 726418 726418 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:726418C>T uc002cis.1 + 1 344 c.317C>T c.(316-318)CCG>CTG p.P106L RHBDL1_uc002cir.1_Missense_Mutation_p.P41L|RHBDL1_uc010uun.1_Missense_Mutation_p.P41L NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 106 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CCCCTGGACCCGGCCAAGCTG 0.667 NaN 0 0 0 0.014758 0 5 4 MAPK8IP3 23162 broad.mit.edu 37 16 1817831 1817831 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:1817831C>T uc002cmk.2 + 28 3552 c.3432C>T c.(3430-3432)TTC>TTT p.F1144F MAPK8IP3_uc002cml.2_Silent_p.F1138F|MAPK8IP3_uc010uvl.1_Silent_p.F1145F NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1144 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GTTTCTCCTTCGTACGCATCA 0.667 NaN 0 0 0 0.004672 0 3 44 CREBBP 1387 broad.mit.edu 37 16 3807879 3807879 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:3807879C>G uc002cvv.2 - 18 3744 c.3540G>C c.(3538-3540)AAG>AAC p.K1180N CREBBP_uc002cvw.2_Missense_Mutation_p.K1142N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1180 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCTCTGCAAGCTTACTGCAAA 0.473 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.016522 0 24 18 GRIN2A 2903 broad.mit.edu 37 16 9923389 9923389 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:9923389A>G uc002czo.3 - 9 2446 c.1898T>C c.(1897-1899)GTA>GCA p.V633A GRIN2A_uc010uym.1_Missense_Mutation_p.V633A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V476A|GRIN2A_uc002czr.3_Missense_Mutation_p.V633A NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 633 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) GAAGGCCCATACAGATACCAT 0.493 NaN 0 0 0 0.010771 0 46 16 CLEC16A 23274 broad.mit.edu 37 16 11051690 11051690 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:11051690G>A uc002dao.2 + 2 362 c.132G>A c.(130-132)CGG>CGA p.R44R CLEC16A_uc002dan.3_Silent_p.R44R NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 44 ovary(1)|central_nervous_system(1) 2 AACAGAACCGGAACCTGCTAG 0.428 NaN 0 0 0 0.00623 0 38 26 RBBP6 5930 broad.mit.edu 37 16 24578652 24578652 + Missense_Mutation SNP C C T rs144821029 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:24578652C>T uc002dmh.2 + 15 2818 c.1778C>T c.(1777-1779)CCA>CTA p.P593L RBBP6_uc010vcb.1_Missense_Mutation_p.P460L|RBBP6_uc002dmi.2_Missense_Mutation_p.P593L|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P460L NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 593 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GGCCAGCCACCACCCGCTGGG 0.299 NaN 0 0 0 0.01441 0 145 65 NSMCE1 197370 broad.mit.edu 37 16 27246541 27246541 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:27246541C>T uc002doi.1 - 3 314 c.216G>A c.(214-216)AAG>AAA p.K72K NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 72 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 TGACTCCTCTCTTTATCTCAA 0.478 NaN OREG0023693 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012213 0 34 15 ZNF423 23090 broad.mit.edu 37 16 49672418 49672418 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:49672418G>A uc002efs.2 - 5 943 c.645C>T c.(643-645)ACC>ACT p.T215T ZNF423_uc010vgn.1_Silent_p.T98T NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 215 C2H2-type 4. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGGAGCTGTGGGTCTTCAGGT 0.592 NaN 0 0 0 0.01892 0 24 7 SLC12A3 6559 broad.mit.edu 37 16 56906306 56906306 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:56906306A>G uc010ccm.2 + 7 925 c.896A>G c.(895-897)AAC>AGC p.N299S SLC12A3_uc002ekd.3_Missense_Mutation_p.N299S|SLC12A3_uc010ccn.2_Missense_Mutation_p.N298S NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 299 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCTTTGCCAACTATTTAGTG 0.557 NaN 0 0 0 0.00499 0 16 10 CNGB1 1258 broad.mit.edu 37 16 57949211 57949211 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:57949211T>C uc002emt.2 - 23 2311 c.2246A>G c.(2245-2247)GAT>GGT p.D749G CNGB1_uc010cdh.2_Missense_Mutation_p.D743G NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 749 Helical; Name=H3; (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 ATAGAGAAAATCCAAGGGCAG 0.587 NaN 0 0 0 0.004656 0 17 12 DPEP3 64180 broad.mit.edu 37 16 68009695 68009695 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:68009695G>A uc002evc.3 - 10 1609 c.1515C>T c.(1513-1515)ATC>ATT p.I505I DPEP3_uc010cex.2_Silent_p.I504I NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 480 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TGAAGGTTGGGATGGTGGCAG 0.582 NaN 0 0 0 0.010729 0 12 3 ZNF276 92822 broad.mit.edu 37 16 89789220 89789220 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:89789220G>A uc002fos.3 + 2 584 c.487G>A c.(487-489)GGT>AGT p.G163S C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCCCGGCTGGTCGCCGGAA 0.592 NaN 0 0 0 0.007291 0 31 23 DEF8 54849 broad.mit.edu 37 16 90015915 90015915 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:90015915G>A uc002fpn.1 + 2 131 c.42G>A c.(40-42)GCG>GCA p.A14A DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 14 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CCTGGCAGGCGATGCAGGTAT 0.662 NaN 0 0 0 0.012319 0 21 24 PFN1 5216 broad.mit.edu 37 17 4849962 4849962 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:4849962C>T uc002gaa.2 - 2 422 c.286G>A c.(286-288)GCC>ACC p.A96T PFN1_uc002fzz.2_Missense_Mutation_p.A60T NM_005022 NP_005013 P07737 PROF1_HUMAN profilin 1 96 actin cytoskeleton organization|platelet activation|platelet degranulation actin cytoskeleton|cytoplasm actin binding|proline-rich region binding 0 AAGGTGGGGGCCCCACCGGTG 0.532 NaN 0 0 0 0.016522 0 23 87 NLRP1 22861 broad.mit.edu 37 17 5445293 5445293 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:5445293C>T uc002gci.2 - 6 3138 c.2583G>A c.(2581-2583)CTG>CTA p.L861L NLRP1_uc002gcg.1_Silent_p.L861L|NLRP1_uc002gck.2_Silent_p.L861L|NLRP1_uc002gcj.2_Silent_p.L861L|NLRP1_uc002gcl.2_Silent_p.L861L|NLRP1_uc002gch.3_Silent_p.L861L|NLRP1_uc010clh.2_Silent_p.L861L NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 861 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GGTTGGCTCTCAGCCCAAAGG 0.572 NaN 0 0 0 0.001984 0 7 22 DLG4 1742 broad.mit.edu 37 17 7094036 7094036 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:7094036C>G uc002get.3 - 22 3496 c.2295G>C c.(2293-2295)GAG>GAC p.E765D DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E662D|DLG4_uc010cly.2_Missense_Mutation_p.E719D|DLG4_uc010vto.1_Missense_Mutation_p.E762D NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 722 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 ATCAGAGTCTCTCTCGGGCTG 0.617 NaN 0 0 0 0.013537 0 12 53 MPDU1 9526 broad.mit.edu 37 17 7490058 7490058 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:7490058C>T uc002ghw.2 + 4 567 c.351C>T c.(349-351)TGC>TGT p.C117C MPDU1_uc010vub.1_Silent_p.C38C|MPDU1_uc002ghx.2_Silent_p.C117C|MPDU1_uc010vuc.1_Intron NM_004870 NP_004861 O75352 MPU1_HUMAN mannose-P-dolichol utilization defect 1 117 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|protein folding endoplasmic reticulum membrane|integral to membrane|mitochondrion protein binding central_nervous_system(1) 1 TCACCATCTGCTTCCTGGTCA 0.557 NaN 0 0 0 0.014323 0 22 61 PER1 5187 broad.mit.edu 37 17 8044493 8044493 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:8044493C>T uc002gkd.2 - 23 4004 c.3766G>A c.(3766-3768)GGC>AGC p.G1256S PER1_uc010cns.2_Missense_Mutation_p.G130S|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1256 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TTGGCCCCGCCTTGGGCCTCC 0.642 NaN T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 0 0 0 0.01441 0 57 156 USP43 124739 broad.mit.edu 37 17 9604544 9604544 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:9604544C>G uc010cod.2 + 11 1644 c.1644C>G c.(1642-1644)TTC>TTG p.F548L USP43_uc002gma.3_Missense_Mutation_p.F237L|USP43_uc010vva.1_Missense_Mutation_p.F548L|USP43_uc010coe.2_Missense_Mutation_p.F345L|USP43_uc002gmc.3_Missense_Mutation_p.S25C NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 548 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GTTTTCAGTTCTACACCAAGG 0.657 NaN 0 0 0 0.014758 0 4 6 TBC1D26 353149 broad.mit.edu 37 17 15641362 15641362 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:15641362G>T uc010cov.2 + 6 500 c.250G>T c.(250-252)GAC>TAC p.D84Y TBC1D26_uc010cou.1_Missense_Mutation_p.D84Y|TBC1D26_uc002gpb.3_RNA NM_178571 NP_848666 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 84 intracellular Rab GTPase activator activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) GATGCTTGCAGACTGGACAAA 0.522 NaN 1 0 2.14674e-31 0.01441 2.36011e-31 48 49 NOS2 4843 broad.mit.edu 37 17 26097944 26097944 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:26097944C>T uc002gzu.2 - 15 2068 c.1804G>A c.(1804-1806)GGA>AGA p.G602R NOS2_uc010crh.1_Missense_Mutation_p.G602R|NOS2_uc010wab.1_Intron NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 602 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCCACCTCTCCATTGCCAGGG 0.612 NaN 0 0 0 0.004482 0 8 14 CORO6 84940 broad.mit.edu 37 17 27945821 27945821 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:27945821C>T uc002hel.2 - 4 622 c.620G>A c.(619-621)GGC>GAC p.G207D CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 207 WD 3. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CACCACTTGGCCTTTTCTGGG 0.597 NaN 0 0 0 0.006214 0 10 27 NF1 4763 broad.mit.edu 37 17 29557345 29557345 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:29557345G>A uc002hgg.2 + 23 3391 c.3058G>A c.(3058-3060)GAA>AAA p.E1020K NF1_uc002hgh.2_Missense_Mutation_p.E1020K|NF1_uc010csn.1_Missense_Mutation_p.E880K|NF1_uc002hgi.1_Missense_Mutation_p.E53K NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1020 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAATTAGTTGAAGTAATGAT 0.333 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.013726 0 36 42 SYNRG 11276 broad.mit.edu 37 17 35914064 35914064 + Missense_Mutation SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:35914064T>A uc002hoa.2 - 14 1844 c.1761A>T c.(1759-1761)AAA>AAT p.K587N SYNRG_uc010wde.1_Missense_Mutation_p.K509N|SYNRG_uc010wdf.1_Missense_Mutation_p.K509N|SYNRG_uc002hoc.2_Missense_Mutation_p.K508N|SYNRG_uc002hoe.2_Missense_Mutation_p.K509N|SYNRG_uc002hod.2_Missense_Mutation_p.K509N|SYNRG_uc010wdg.1_Missense_Mutation_p.K426N|SYNRG_uc002hob.2_Missense_Mutation_p.K587N|SYNRG_uc002hof.2_Missense_Mutation_p.K299N|SYNRG_uc010cvd.1_Missense_Mutation_p.K387N NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 587 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 AAGTTTTGTCTTTTGTTGGTG 0.408 NaN 0 0 0 0.01441 0 79 33 FZD2 2535 broad.mit.edu 37 17 42635140 42635140 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:42635140G>A uc002igx.1 + 1 216 c.84G>A c.(82-84)GAG>GAA p.E28E NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 28 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TCCACGGGGAGAAGGGCATCT 0.567 NaN 0 0 0 0.004007 0 15 34 ADAM11 4185 broad.mit.edu 37 17 42853520 42853520 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:42853520G>A uc002ihh.2 + 18 1511 c.1511G>A c.(1510-1512)CGA>CAA p.R504Q ADAM11_uc010wjd.1_Missense_Mutation_p.R304Q|ADAM11_uc002ihi.2_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 504 Extracellular (Potential).|Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GTGTCCTGCCGAGAGGCCGTG 0.697 NaN 0 0 0 0.01441 0 62 77 KIF18B 146909 broad.mit.edu 37 17 43012728 43012728 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:43012728C>T uc010wji.1 - 3 471 c.370G>A c.(370-372)GGG>AGG p.G124R KIF18B_uc002iht.2_Missense_Mutation_p.G124R|KIF18B_uc010wjh.1_Missense_Mutation_p.G124R NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) CCGGGGTCCCCCTCCCTTCCC 0.627 NaN 0 0 0 0.00632 0 29 19 NSF 4905 broad.mit.edu 37 17 44788430 44788430 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:44788430G>A uc002iku.2 + 14 1676 c.1572G>A c.(1570-1572)CTG>CTA p.L524L NSF_uc010wke.1_Silent_p.L430L|NSF_uc010wkf.1_Silent_p.L430L|NSF_uc010wkg.1_Silent_p.L519L NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 524 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) GGGAGCTGCTGGTGCAGCAGA 0.443 NaN 0 0 0 0.008361 0 28 24 HOXB1 3211 broad.mit.edu 37 17 46607197 46607197 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:46607197G>A uc002ink.1 - 2 624 c.618C>T c.(616-618)CTC>CTT p.L206L NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 206 Homeobox. nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGTTGGTGCGGAGGCCACTGG 0.607 NaN 0 0 0 0.006999 0 38 115 MTMR4 9110 broad.mit.edu 37 17 56582854 56582854 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:56582854C>T uc002iwj.2 - 11 1192 c.1082G>A c.(1081-1083)AGC>AAC p.S361N NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 361 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGCATCTGGCTACACACAGC 0.498 NaN 0 0 0 0.010729 0 12 45 RECQL5 9400 broad.mit.edu 37 17 73623551 73623551 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:73623551C>A uc010dgl.2 - 20 3083 c.2927G>T c.(2926-2928)CGG>CTG p.R976L RECQL5_uc010dgk.2_Missense_Mutation_p.R949L|RECQL5_uc002jot.3_Missense_Mutation_p.R172L NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 976 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCTCTCGCACCGGGCCCGGCC 0.632 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 1 0 4.17593e-13 0.007835 4.42062e-13 41 47 TMC6 11322 broad.mit.edu 37 17 76122887 76122887 + Silent SNP G G A rs145198906 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:76122887G>A uc002juj.1 - 1 153 c.27C>T c.(25-27)CTC>CTT p.L9L TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Silent_p.L9L|TMC6_uc010dhg.1_Silent_p.L9L|TMC6_uc002jul.1_Silent_p.L9L|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Silent_p.L9L|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Silent_p.L9L NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 9 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAGGGACATCGAGGATGAAGG 0.667 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.001984 0 6 23 NDC80 10403 broad.mit.edu 37 18 2578122 2578122 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:2578122G>A uc002kli.2 + 5 640 c.458G>A c.(457-459)AGA>AAA p.R153K NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 153 Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 GAGGTTCCAAGAATCTTTAAA 0.363 NaN 0 0 0 0.01441 0 61 61 LAMA1 284217 broad.mit.edu 37 18 7013975 7013975 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:7013975T>C uc002knm.2 - 23 3296 c.3202A>G c.(3202-3204)AAA>GAA p.K1068E LAMA1_uc010wzj.1_Missense_Mutation_p.K544E NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1068 Laminin EGF-like 12. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACCAAATTTTGACTTGCAC 0.572 NaN 0 0 0 0.001168 0 5 27 CHMP1B 57132 broad.mit.edu 37 18 11852005 11852005 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:11852005C>G uc002kqe.2 + 1 617 c.495C>G c.(493-495)AAC>AAG p.N165K GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron NM_020412 NP_065145 Q7LBR1 CHM1B_HUMAN chromatin modifying protein 1B 165 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding 0 TCGACCTCAACATGGAGCTGC 0.627 NaN 0 0 0 0.004007 0 16 15 AFG3L2 10939 broad.mit.edu 37 18 12358835 12358835 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:12358835C>A uc002kqz.1 - 8 973 c.860G>T c.(859-861)GGA>GTA p.G287V NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 287 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) ACTGAAGAGTCCGCCCATCCC 0.547 NaN 1 0 7.07596e-05 0.006122 7.24985e-05 15 59 RIOK3 8780 broad.mit.edu 37 18 21046190 21046190 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:21046190G>A uc002kui.3 + 6 1254 c.637G>A c.(637-639)GAA>AAA p.E213K RIOK3_uc010dls.2_Missense_Mutation_p.E213K|RIOK3_uc010xas.1_Missense_Mutation_p.E197K|RIOK3_uc010xat.1_Silent_p.Q4Q NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog 213 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGCCTACTCAGAAGAACGTCG 0.353 NaN 0 0 0 0.010504 0 19 46 MALT1 10892 broad.mit.edu 37 18 56390406 56390406 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:56390406C>T uc002lhm.1 + 10 1403 c.1145C>T c.(1144-1146)TCA>TTA p.S382L MALT1_uc002lhn.1_Missense_Mutation_p.S371L NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 382 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity p.S371L(1) ovary(2)|lung(1)|central_nervous_system(1) 4 AAAGTGGTTTCACTGTTGGAT 0.393 NaN T BIRC3 MALT 0 0 0 0.014323 0 21 34 NFATC1 4772 broad.mit.edu 37 18 77210968 77210968 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:77210968G>C uc010xfg.1 + 5 2057 c.1604G>C c.(1603-1605)GGA>GCA p.G535A NFATC1_uc002lnc.1_Missense_Mutation_p.G535A|NFATC1_uc010xff.1_Missense_Mutation_p.G535A|NFATC1_uc002lnd.2_Missense_Mutation_p.G535A|NFATC1_uc002lne.2_Missense_Mutation_p.G63A|NFATC1_uc010xfh.1_Missense_Mutation_p.G535A|NFATC1_uc010xfi.1_Missense_Mutation_p.G522A|NFATC1_uc010xfj.1_Missense_Mutation_p.G63A|NFATC1_uc002lnf.2_Missense_Mutation_p.G522A|NFATC1_uc002lng.2_Missense_Mutation_p.G522A|NFATC1_uc010xfk.1_Missense_Mutation_p.G522A NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 535 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GACTGTGCCGGAATCCTGAAA 0.562 NaN 0 0 0 0.013114 0 46 81 MIDN 90007 broad.mit.edu 37 19 1257191 1257191 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:1257191G>A uc002lrp.2 + 8 1842 c.1327G>A c.(1327-1329)GGC>AGC p.G443S NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 443 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAGGCCTCCGGCTTGGGCCT 0.682 NaN 0 0 0 0.008361 0 29 18 EEF2 1938 broad.mit.edu 37 19 3982047 3982047 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:3982047G>A uc002lze.2 - 6 878 c.795C>T c.(793-795)TAC>TAT p.Y265Y NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 265 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGTCAAAGTACCTGGCAA 0.592 NaN 0 0 0 0.009535 0 31 29 MPND 84954 broad.mit.edu 37 19 4359177 4359177 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:4359177C>T uc002mae.2 + 11 1321 c.1254C>T c.(1252-1254)TTC>TTT p.F418F MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.F398F|MPND_uc002maf.2_Silent_p.F448F|MPND_uc002mah.2_Silent_p.F306F|MPND_uc002mai.2_Silent_p.F307F NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 418 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGGAGTTCTACAAGGGTT 0.612 NaN 0 0 0 0.012213 0 31 38 SH3GL1 6455 broad.mit.edu 37 19 4366967 4366967 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:4366967C>A uc002maj.2 - 2 176 c.70G>T c.(70-72)GCC>TCC p.A24S SH3GL1_uc002mak.2_Missense_Mutation_p.A24S|SH3GL1_uc010xig.1_Missense_Mutation_p.A24S NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 24 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) GTCCCCTCGGCCCCTCCGACC 0.597 NaN T MLL AL 1 0 1.48734e-19 0.013114 1.60585e-19 45 143 ARHGEF18 23370 broad.mit.edu 37 19 7518413 7518413 + Nonsense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:7518413C>G uc002mgi.2 + 7 1605 c.1352C>G c.(1351-1353)TCA>TGA p.S451* ARHGEF18_uc010xjm.1_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgh.2_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgj.1_Nonsense_Mutation_p.S94* NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 451 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GATATCATCTCACAAGTGGAC 0.522 NaN 0 0 0 0.008871 0 21 74 YIPF2 78992 broad.mit.edu 37 19 11038321 11038321 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:11038321G>A uc002mqb.2 - 4 388 c.264C>T c.(262-264)GAC>GAT p.D88D YIPF2_uc002mqc.2_Silent_p.D88D|C19orf52_uc002mqd.1_5'Flank NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 88 Cytoplasmic (Potential). integral to membrane|transport vesicle 0 AGGTGTCCACGTCAAAGAAGC 0.517 NaN 0 0 0 0.012319 0 22 25 TRMT1 55621 broad.mit.edu 37 19 13220477 13220477 + Nonsense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:13220477C>A uc002mwj.2 - 10 1448 c.1198G>T c.(1198-1200)GAG>TAG p.E400* TRMT1_uc010xmy.1_Nonsense_Mutation_p.E4*|TRMT1_uc002mwk.2_Nonsense_Mutation_p.E371*|TRMT1_uc002mwl.3_Nonsense_Mutation_p.E400*|TRMT1_uc010xmz.1_Nonsense_Mutation_p.E186* NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 400 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGGATGGGCTCTGCCCACATG 0.652 NaN 1 0 4.54149e-19 0.014323 4.89361e-19 21 56 TRMT1 55621 broad.mit.edu 37 19 13223540 13223540 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:13223540C>A uc002mwj.2 - 6 1099 c.849G>T c.(847-849)AAG>AAT p.K283N TRMT1_uc002mwk.2_Missense_Mutation_p.K283N|TRMT1_uc002mwl.3_Missense_Mutation_p.K283N|TRMT1_uc010xmz.1_Missense_Mutation_p.K69N NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 283 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) AGGCCCGGCTCTTGAGGGCCA 0.642 NaN 1 0 1.02788e-11 0.00499 1.08599e-11 16 78 TRMT1 55621 broad.mit.edu 37 19 13226568 13226568 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:13226568C>G uc002mwj.2 - 3 575 c.325G>C c.(325-327)GAG>CAG p.E109Q NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E109Q|TRMT1_uc002mwl.3_Missense_Mutation_p.E109Q|TRMT1_uc010xmz.1_5'UTR NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 109 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GTGTCCTTCTCTCCTGGAACC 0.502 NaN 0 0 0 0.013114 0 45 141 MRI1 84245 broad.mit.edu 37 19 13882933 13882933 + Splice_Site SNP A A G rs112124892 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:13882933A>G uc002mxe.2 + 6 1016 c.950_splice c.e6-2 p.G317_splice MRI1_uc002mxf.2_Splice_Site_p.G270_splice|C19orf53_uc002mxg.2_5'Flank NM_001031727 NP_001026897 Q9BV20 MTNA_HUMAN translation initiation factor eIF-2B subunit L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity ovary(1) 1 TCTCCCCTGCAGGGATTGGAG 0.542 NaN 0 0 0 0.013726 0 33 28 DCAF15 90379 broad.mit.edu 37 19 14065247 14065247 + Silent SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:14065247A>C uc002mxt.2 + 2 234 c.228A>C c.(226-228)GCA>GCC p.A76A PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 76 central_nervous_system(1) 1 TCCTCTATGCAGGGTGAGGCT 0.657 NaN 0 0 0 0.006214 0 10 38 CPAMD8 27151 broad.mit.edu 37 19 17132940 17132940 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:17132940G>A uc002nfb.2 - 2 317 c.285C>T c.(283-285)GTC>GTT p.V95V NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 48 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TCACGCTGATGACTTCCTCCA 0.602 NaN 0 0 0 0.010729 0 11 8 CRLF1 9244 broad.mit.edu 37 19 18705189 18705189 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:18705189C>G uc010ebt.1 - 7 1274 c.1080G>C c.(1078-1080)TCG>TCC p.S360S NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 360 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 GCACCGGCCCCGAGCTCGGCT 0.617 NaN 0 0 0 0.014758 0 4 7 ZNF792 126375 broad.mit.edu 37 19 35450251 35450251 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:35450251C>T uc002nxh.1 - 4 895 c.508G>A c.(508-510)GAG>AAG p.E170K NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCACTGAACTCAGAGCCTTTC 0.502 NaN 0 0 0 0.01441 0 132 188 DMKN 93099 broad.mit.edu 37 19 35993780 35993780 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:35993780G>A uc002nzm.3 - 10 1326 c.1143C>T c.(1141-1143)GTC>GTT p.V381V DMKN_uc002nzi.3_5'Flank|DMKN_uc002nzj.2_Silent_p.V55V|DMKN_uc002nzk.3_Silent_p.V28V|DMKN_uc002nzl.3_Silent_p.V94V|DMKN_uc002nzo.3_Silent_p.V370V|DMKN_uc002nzn.3_Silent_p.V340V|DMKN_uc002nzw.2_Silent_p.V37V|DMKN_uc002nzr.2_Silent_p.V37V|DMKN_uc002nzp.2_Silent_p.V75V|DMKN_uc002nzq.2_Silent_p.V57V|DMKN_uc002nzt.2_Silent_p.V28V|DMKN_uc002nzs.2_Silent_p.V28V|DMKN_uc002nzu.2_Silent_p.V28V|DMKN_uc002nzv.2_Silent_p.V28V|DMKN_uc010xsv.1_Silent_p.V28V|DMKN_uc010xsw.1_Silent_p.V77V NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 381 extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGGGGGGCGGGACCTGGTTCT 0.607 NaN 0 0 0 0.006122 0 16 37 SHKBP1 92799 broad.mit.edu 37 19 41086561 41086561 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:41086561A>G uc002oob.2 + 8 701 c.652A>G c.(652-654)AGG>GGG p.R218G SHKBP1_uc002ooc.2_Missense_Mutation_p.R218G|SHKBP1_uc002ood.2_Missense_Mutation_p.R218G|SHKBP1_uc010xvl.1_Missense_Mutation_p.R141G|SHKBP1_uc002ooe.2_Missense_Mutation_p.R55G|SHKBP1_uc002oof.2_Missense_Mutation_p.R55G|SHKBP1_uc010xvm.1_Missense_Mutation_p.R55G|SHKBP1_uc010xvn.1_Missense_Mutation_p.R96G NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 218 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTCTGCTACAGGTGCTTGGG 0.582 NaN 0 0 0 0.007291 0 30 62 CYP2A7 1549 broad.mit.edu 37 19 41383229 41383229 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:41383229A>G uc002opm.2 - 7 1569 c.1027T>C c.(1027-1029)TTT>CTT p.F343L CYP2A7_uc002opo.2_Missense_Mutation_p.F343L|CYP2A7_uc002opn.2_Missense_Mutation_p.F292L NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 343 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CGGTCCTCAAACTTGGGCTGC 0.542 NaN 0 0 0 0.01441 0 51 65 MEGF8 1954 broad.mit.edu 37 19 42856512 42856512 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:42856512G>A uc002otl.3 + 18 3688 c.3053G>A c.(3052-3054)TGC>TAC p.C1018Y MEGF8_uc002otm.3_Missense_Mutation_p.C626Y NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1085 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CTGGCCCGGTGCCACCCGCGG 0.701 NaN 0 0 0 0.00308 0 8 6 ZNF222 7673 broad.mit.edu 37 19 44536804 44536804 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:44536804C>T uc002oyc.2 + 4 1160 c.977C>T c.(976-978)TCA>TTA p.S326L ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S366L|ZNF222_uc002oyd.2_Missense_Mutation_p.S272L NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 326 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) AAATGGTCCTCATATCTTTTG 0.413 NaN 0 0 0 0.01441 0 70 117 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:45867687T>C uc002pbj.2 - 8 760 c.713A>G c.(712-714)AAC>AGC p.N238S ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.001984 0 7 24 GPR77 27202 broad.mit.edu 37 19 47844630 47844630 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:47844630G>A uc010ela.1 + 2 792 c.574G>A c.(574-576)GGC>AGC p.G192S GPR77_uc002pgk.1_Missense_Mutation_p.G192S NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 192 Extracellular (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) GGACTACGGCGGCTCCTCCAG 0.667 NaN 0 0 0 0.012213 0 33 45 GYS1 2997 broad.mit.edu 37 19 49496351 49496351 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:49496351A>C uc002plp.2 - 1 260 c.19T>G c.(19-21)TTG>GTG p.L7V GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.L7V|GYS1_uc010xzz.1_5'UTR|GYS1_uc010yaa.1_RNA|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank|RUVBL2_uc010yac.1_5'Flank NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 7 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GACATGGACAAAGTGCGGTTT 0.612 NaN OREG0025612 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 58 104 HRC 3270 broad.mit.edu 37 19 49658510 49658510 + Translation_Start_Site SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:49658510G>T uc002pmv.2 - 1 172 c.-15C>A c.(-17--13)TGCTG>TGATG TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CGGACAGGCAGCACTGGCTCC 0.612 NaN 1 0 9.31168e-06 0.016723 9.6132e-06 14 13 TEAD2 8463 broad.mit.edu 37 19 49852004 49852004 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:49852004C>T uc002pnj.2 - 8 782 c.691G>A c.(691-693)GTA>ATA p.V231I TEAD2_uc002png.2_Missense_Mutation_p.V234I|TEAD2_uc002pnh.2_Missense_Mutation_p.V235I|TEAD2_uc002pni.2_Missense_Mutation_p.V234I|TEAD2_uc010yao.1_Missense_Mutation_p.V103I|TEAD2_uc010emw.2_Missense_Mutation_p.V234I NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 231 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAGAACTCTACCAGCTGCAAC 0.607 NaN 0 0 0 0.01441 0 53 56 LIM2 3982 broad.mit.edu 37 19 51883515 51883515 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:51883515C>G uc002pwm.2 - 5 506 c.462G>C c.(460-462)GGG>GGC p.G154G LIM2_uc002pwl.2_Silent_p.G196G NM_001161748 NP_001155220 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa isoform 154 Helical; (Potential). cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens 0 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) TGTAGAAAATCCCTGCATGAG 0.537 NaN 0 0 0 0.004672 0 3 22 ZNF615 284370 broad.mit.edu 37 19 52497266 52497266 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:52497266C>T uc002pye.1 - 6 1355 c.1063G>A c.(1063-1065)GAG>AAG p.E355K ZNF615_uc002pyf.1_Missense_Mutation_p.E366K|ZNF615_uc002pyg.1_Missense_Mutation_p.E247K|ZNF615_uc002pyh.1_Missense_Mutation_p.E366K|ZNF615_uc010epi.1_Missense_Mutation_p.E362K|ZNF615_uc010ydg.1_Missense_Mutation_p.E360K NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 355 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CGCCTCTTCTCAATGAAGCCT 0.398 NaN 0 0 0 0.01441 0 49 101 MYADM 91663 broad.mit.edu 37 19 54377621 54377621 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:54377621A>C uc002qcl.2 + 3 986 c.838A>C c.(838-840)AGC>CGC p.S280R MYADM_uc002qcm.2_Missense_Mutation_p.S280R|MYADM_uc002qcn.2_Missense_Mutation_p.S280R|MYADM_uc002qco.2_Missense_Mutation_p.S280R|MYADM_uc002qcp.2_Missense_Mutation_p.S280R NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 280 MARVEL 2. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TGTAAGCTGCAGCCGCAGCCA 0.617 NaN 0 0 0 0.004007 0 15 52 CNOT3 4849 broad.mit.edu 37 19 54647749 54647749 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:54647749A>G uc002qdj.1 + 6 577 c.266A>G c.(265-267)GAA>GGA p.E89G CNOT3_uc010yel.1_Missense_Mutation_p.E89G|CNOT3_uc002qdi.2_Missense_Mutation_p.E2G|CNOT3_uc002qdk.1_Missense_Mutation_p.E89G|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 89 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGCAAATGGAACGGTTCAAA 0.557 NaN 0 0 0 0.012213 0 33 56 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NaN 1 0 0.000602214 0.014758 0.000611236 5 24 YWHAQ 10971 broad.mit.edu 37 2 9728302 9728302 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:9728302C>T uc002qzw.2 - 3 738 c.574G>A c.(574-576)GCT>ACT p.A192T YWHAQ_uc002qzx.2_Missense_Mutation_p.A192T NM_006826 NP_006817 P27348 1433T_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 192 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) ACCGTTTTAGCCAGCGTGCAG 0.413 NaN 0 0 0 0.008361 0 30 19 GREB1 9687 broad.mit.edu 37 2 11772057 11772057 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:11772057C>T uc002rbk.1 + 27 4934 c.4634C>T c.(4633-4635)CCG>CTG p.P1545L GREB1_uc002rbp.1_Missense_Mutation_p.P543L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1545 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ATAAAAAGTCCGACATTCACT 0.343 NaN 0 0 0 0.016723 0 12 23 RAD51AP2 729475 broad.mit.edu 37 2 17697446 17697446 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:17697446C>T uc002rcl.1 - 1 2261 c.2237G>A c.(2236-2238)CGA>CAA p.R746Q RAD51AP2_uc010exn.1_Missense_Mutation_p.R737Q NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 746 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AATGTATCCTCGGTTGTTCTG 0.323 NaN 0 0 0 0.00623 0 40 15 SDC1 6382 broad.mit.edu 37 2 20405117 20405117 + Silent SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:20405117G>T uc002rdo.1 - 2 434 c.135C>A c.(133-135)TCC>TCA p.S45S SDC1_uc002rdp.1_Silent_p.S45S|SDC1_uc010exv.2_Silent_p.S45S|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 45 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CACCTGAGCCGGAGAAGTTGT 0.532 NaN 1 0 5.08636e-23 0.01441 5.5469e-23 62 30 REL 5966 broad.mit.edu 37 2 61149024 61149024 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:61149024C>T uc002sam.1 + 11 1438 c.1214C>T c.(1213-1215)GCA>GTA p.A405V REL_uc002san.1_Missense_Mutation_p.A373V NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 405 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) GCCTCAATGGCACCTCTGCCT 0.507 NaN A Hodgkin Lymphoma 0 0 0 0.005443 0 26 67 AFTPH 54812 broad.mit.edu 37 2 64779951 64779951 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:64779951T>C uc002sdc.2 + 1 1375 c.1343T>C c.(1342-1344)TTT>TCT p.F448S AFTPH_uc002scz.2_Missense_Mutation_p.F448S|AFTPH_uc002sda.2_Missense_Mutation_p.F448S|AFTPH_uc002sdb.2_Missense_Mutation_p.F448S NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 448 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 ACTCCACCTTTTGTTACTGGT 0.398 NaN 0 0 0 0.005524 0 40 135 ST3GAL5 8869 broad.mit.edu 37 2 86090551 86090551 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:86090551A>G uc002sqq.1 - 2 269 c.140T>C c.(139-141)CTG>CCG p.L47P ST3GAL5_uc010ysy.1_Missense_Mutation_p.L47P|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L47P|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L24P NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 47 Cytoplasmic (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 GTACCATTGCAGGGAAGGCCT 0.512 NaN 0 0 0 0.004007 0 15 56 VWA3B 200403 broad.mit.edu 37 2 98779342 98779342 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:98779342C>T uc002syo.2 + 8 1281 c.1017C>T c.(1015-1017)CTC>CTT p.L339L VWA3B_uc010yvh.1_Silent_p.L189L|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.L339L|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 339 ovary(3)|large_intestine(2)|skin(1) 6 ACGTGTTTCTCGTTTGGCAAG 0.637 NaN 0 0 0 0.004656 0 26 17 TTL 150465 broad.mit.edu 37 2 113258822 113258822 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:113258822T>C uc002thu.2 + 4 688 c.509T>C c.(508-510)CTC>CCC p.L170P TTL_uc010fkm.1_5'Flank NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 170 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TCAGAGCTTCTCGATTTCATA 0.458 NaN T ETV6 ALL 0 0 0 0.008871 0 21 55 SCTR 6344 broad.mit.edu 37 2 120221747 120221747 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:120221747G>A uc002tma.2 - 6 814 c.588C>T c.(586-588)GAC>GAT p.D196D SCTR_uc002tlz.2_Silent_p.D18D NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 196 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity p.D196N(1) ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGAGCACGGCGTCCTTGATGA 0.582 NaN 0 0 0 0.00499 0 18 61 PROC 5624 broad.mit.edu 37 2 128185988 128185988 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:128185988G>A uc002tok.2 + 9 925 c.852G>A c.(850-852)GAG>GAA p.E284E PROC_uc002tol.2_Silent_p.E305E|PROC_uc010yzi.1_Silent_p.E340E|PROC_uc010yzj.1_Silent_p.E179E|PROC_uc010yzk.1_Silent_p.E339E|PROC_uc002tom.2_Silent_p.E318E NM_000312 NP_000303 P04070 PROC_HUMAN protein C 284 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ACATCAAGGAGGTCTTCGTCC 0.632 NaN 0 0 0 0.00632 0 30 34 MYO7B 4648 broad.mit.edu 37 2 128324290 128324290 + Nonsense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:128324290C>T uc002top.2 + 5 411 c.358C>T c.(358-360)CAG>TAG p.Q120* NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 120 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGAGCAGGTACAGCTCTACTA 0.592 NaN 0 0 0 0.009096 0 4 17 LIMS2 55679 broad.mit.edu 37 2 128399647 128399647 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:128399647G>A uc002tpa.2 - 6 803 c.637C>T c.(637-639)CTG>TTG p.L213L LIMS2_uc002tou.2_Silent_p.L21L|LIMS2_uc002tov.2_Silent_p.L61L|LIMS2_uc002tow.2_Silent_p.L61L|LIMS2_uc002tox.2_Silent_p.L237L|LIMS2_uc010fmb.2_Silent_p.L123L|LIMS2_uc002toy.2_Silent_p.L208L|LIMS2_uc010yzm.1_Silent_p.L235L|LIMS2_uc002toz.2_Silent_p.L208L|LIMS2_uc002tpb.2_Silent_p.L208L NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 213 LIM zinc-binding 4. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TGCTTGCCCAGCGCGTTGACC 0.667 NaN 0 0 0 0.004672 0 3 12 SAP130 79595 broad.mit.edu 37 2 128699689 128699689 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:128699689C>G uc002tpp.2 - 20 3170 c.3038G>C c.(3037-3039)AGA>ACA p.R1013T SAP130_uc002tpn.2_Missense_Mutation_p.R773T|SAP130_uc002tpo.2_Missense_Mutation_p.R793T|SAP130_uc010fmd.2_Missense_Mutation_p.R1048T NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 1013 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CATGGAGTCTCTGGCTTCACT 0.413 NaN 0 0 0 0.007291 0 31 71 RAB3GAP1 22930 broad.mit.edu 37 2 135922214 135922214 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:135922214G>A uc002tuj.2 + 23 2682 c.2657G>A c.(2656-2658)GGA>GAA p.G886E RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G886E|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G711E|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 886 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) ACCGGTGCAGGAAGAGGACAT 0.498 NaN 0 0 0 0.006214 0 10 22 LYPD6B 130576 broad.mit.edu 37 2 150061768 150061768 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:150061768T>C uc002twv.1 + 4 480 c.79T>C c.(79-81)TAT>CAT p.Y27H LYPD6B_uc002tww.1_5'UTR|LYPD6B_uc002twx.1_5'UTR NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 3 anchored to membrane|plasma membrane 0 TCACCATAGATATAAGAGTTC 0.433 NaN 0 0 0 0.01441 0 52 43 LRP2 4036 broad.mit.edu 37 2 170151164 170151164 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:170151164G>C uc002ues.2 - 5 697 c.484C>G c.(484-486)CAG>GAG p.Q162E LRP2_uc010zdf.1_Missense_Mutation_p.Q162E NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 162 LDL-receptor class A 4.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACACTTCTGACTGGTGTTA 0.318 NaN 0 0 0 0.004656 0 25 25 GPR155 151556 broad.mit.edu 37 2 175304649 175304649 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:175304649G>A uc002uit.2 - 16 2680 c.2289C>T c.(2287-2289)ATC>ATT p.I763I GPR155_uc002uiu.2_Silent_p.I763I|GPR155_uc002uiv.2_Silent_p.I763I|GPR155_uc010fqs.2_Silent_p.I735I NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 763 DEP. intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 CAATGTTTCGGATACAGAGGT 0.343 NaN 0 0 0 0.007413 0 17 77 TTN 7273 broad.mit.edu 37 2 179587113 179587113 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:179587113A>G uc010zfg.1 - 74 18893 c.18669T>C c.(18667-18669)ACT>ACC p.T6223T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2884T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7150 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) CTACAAATGAAGTCTGTAGAT 0.413 NaN 0 0 0 0.012213 0 35 24 PIKFYVE 200576 broad.mit.edu 37 2 209142384 209142384 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:209142384A>T uc002vcz.2 + 5 723 c.565A>T c.(565-567)AGT>TGT p.S189C PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S189C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S189C|PIKFYVE_uc002vcx.2_Intron NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 189 FYVE-type. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GATTTTCTGCAGTCGTTGCTG 0.383 NaN 0 0 0 0.009535 0 27 107 TNS1 7145 broad.mit.edu 37 2 218712961 218712961 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:218712961C>T uc002vgt.2 - 17 2302 c.1904G>A c.(1903-1905)CGA>CAA p.R635Q TNS1_uc002vgr.2_Missense_Mutation_p.R635Q|TNS1_uc002vgs.2_Missense_Mutation_p.R635Q|TNS1_uc010zjv.1_Missense_Mutation_p.R635Q|TNS1_uc010fvj.1_Missense_Mutation_p.R703Q|TNS1_uc010fvk.1_Missense_Mutation_p.R760Q|TNS1_uc010fvi.1_Missense_Mutation_p.R322Q NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 635 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GCTTCCCCCTCGGACCGGAGC 0.542 NaN 0 0 0 0.001168 0 6 59 OBSL1 23363 broad.mit.edu 37 2 220434968 220434968 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:220434968G>A uc010fwk.2 - 1 1044 c.987C>T c.(985-987)CTC>CTT p.L329L OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L329L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 329 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCACGGCACTGAGCGTCTGGC 0.692 NaN 0 0 0 0.00308 0 8 8 ATG16L1 55054 broad.mit.edu 37 2 234198934 234198934 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:234198934T>C uc002vty.2 + 14 1622 c.1365T>C c.(1363-1365)ATT>ATC p.I455I ATG16L1_uc002vtx.1_Silent_p.I292I|ATG16L1_uc002vua.2_Silent_p.I436I|ATG16L1_uc002vub.2_Silent_p.I313I|ATG16L1_uc002vtz.2_Silent_p.I276I|ATG16L1_uc002vud.3_Silent_p.I371I NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 455 WD 4. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GCAATGATATTGTCTGCACAG 0.413 NaN 0 0 0 0.00623 0 37 68 UGT1A10 54575 broad.mit.edu 37 2 234545483 234545483 + Silent SNP A A C rs45580232 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr2:234545483A>C uc002vur.2 + 1 361 c.315A>C c.(313-315)ATA>ATC p.I105I UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.I105I NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 105 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) CACAAAGTATATTTTCTCTAT 0.388 NaN 0 0 0 0.006122 0 19 73 DEFB125 245938 broad.mit.edu 37 20 76978 76978 + Missense_Mutation SNP G G A rs140898692 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:76978G>A uc002wcw.2 + 2 391 c.391G>A c.(391-393)GAG>AAG p.E131K NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 131 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) CACTACTCCCGAGACTACTAT 0.428 NaN 0 0 0 0.01441 0 55 324 ADAM33 80332 broad.mit.edu 37 20 3655249 3655249 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:3655249G>A uc002wit.2 - 6 589 c.502C>T c.(502-504)CGG>TGG p.R168W ADAM33_uc002wir.1_Missense_Mutation_p.R168W|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R168W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R180W|ADAM33_uc010zqh.1_Missense_Mutation_p.R168W NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 168 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 TGCTCCATCCGAAAGATCTCG 0.607 NaN 0 0 0 0.00632 0 29 139 SMOX 54498 broad.mit.edu 37 20 4168011 4168011 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:4168011G>A uc002wkm.1 + 7 1826 c.1625G>A c.(1624-1626)CGC>CAC p.R542H SMOX_uc002wkk.1_Missense_Mutation_p.R519H|SMOX_uc002wkl.1_Missense_Mutation_p.R489H|SMOX_uc002wkn.1_Missense_Mutation_p.R177H|SMOX_uc002wkp.2_Missense_Mutation_p.R572H|SMOX_uc010zqo.1_Missense_Mutation_p.R466H|SMOX_uc002wko.1_Missense_Mutation_p.R542H NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 542 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) GAGGCTGCCCGCCTCATTGAG 0.632 NaN 0 0 0 0.010818 0 32 54 PCNA 5111 broad.mit.edu 37 20 5098271 5098271 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:5098271C>T uc002wlp.2 - 4 630 c.427G>A c.(427-429)GAA>AAA p.E143K PCNA_uc002wlq.2_Missense_Mutation_p.E143K NM_182649 NP_872590 P12004 PCNA_HUMAN proliferating cell nuclear antigen 143 cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity lung(1) 1 CGTGCAAATTCACCAGAAGGC 0.383 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.013726 0 29 118 RRBP1 6238 broad.mit.edu 37 20 17600979 17600979 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:17600979C>T uc002wpv.1 - 19 2599 c.2245G>A c.(2245-2247)GAG>AAG p.E749K RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.E119K|RRBP1_uc002wpu.2_Missense_Mutation_p.E523K|RRBP1_uc002wpw.1_Missense_Mutation_p.E749K|RRBP1_uc010gcl.1_Missense_Mutation_p.E523K|RRBP1_uc010gcm.1_3'UTR NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1182 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 TTTAGCTTCTCTACAATCTCT 0.517 NaN 0 0 0 0.01441 0 56 89 RRBP1 6238 broad.mit.edu 37 20 17602568 17602568 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:17602568G>C uc002wpv.1 - 15 2227 c.1873C>G c.(1873-1875)CTG>GTG p.L625V RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_5'UTR|RRBP1_uc002wpu.2_Missense_Mutation_p.L399V|RRBP1_uc002wpw.1_Missense_Mutation_p.L625V|RRBP1_uc010gcl.1_Missense_Mutation_p.L399V|RRBP1_uc010gcm.1_Missense_Mutation_p.L78V NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1058 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 GCCTCAATCAGACAGAGCTGC 0.612 NaN 0 0 0 0.012319 0 22 76 CST8 10047 broad.mit.edu 37 20 23472362 23472362 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:23472362G>A uc002wth.1 + 2 415 c.58G>A c.(58-60)GCC>ACC p.A20T NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 20 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) GGCCCTGGTGGCCAGGAAAGA 0.557 NaN 0 0 0 0.01441 0 47 89 MAP1LC3A 84557 broad.mit.edu 37 20 33147580 33147580 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:33147580C>A uc002xaq.1 + 4 398 c.244C>A c.(244-246)CTG>ATG p.L82M MAP1LC3A_uc002xap.1_Missense_Mutation_p.L86M NM_032514 NP_115903 Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 82 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding 0 CTTCTTCCTGCTGGTGAACCA 0.632 NaN 1 0 1.11057e-38 0.01441 1.22344e-38 81 173 ACSS2 55902 broad.mit.edu 37 20 33507279 33507279 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:33507279C>T uc002xbd.2 + 8 997 c.876C>T c.(874-876)CTC>CTT p.L292L ACSS2_uc002xbc.2_Silent_p.L197L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.L305L|ACSS2_uc002xbe.2_5'UTR|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 292 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGCATGAGCTCATGCAAGAGG 0.557 NaN 0 0 0 0.01441 0 55 154 BPI 671 broad.mit.edu 37 20 36937359 36937359 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:36937359C>T uc002xib.2 + 3 347 c.285C>T c.(283-285)CCC>CCT p.P95P NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 95 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) TCCAGCTTCCCAGTTCCCAGA 0.448 NaN 0 0 0 0.01441 0 51 107 SLC32A1 140679 broad.mit.edu 37 20 37353467 37353467 + Nonsense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:37353467C>T uc002xjc.2 + 1 363 c.100C>T c.(100-102)CAG>TAG p.Q34* NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 34 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GATGGGTTTTCAGGCGGCCAC 0.632 NaN 0 0 0 0.008871 0 19 19 CHD6 84181 broad.mit.edu 37 20 40044106 40044106 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:40044106G>C uc002xka.1 - 34 6837 c.6659C>G c.(6658-6660)TCC>TGC p.S2220C CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2220 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TGATGAGCAGGAGAGGTCCAT 0.612 NaN 0 0 0 0.003163 0 16 31 DNTTIP1 116092 broad.mit.edu 37 20 44430092 44430092 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:44430092A>G uc002xpk.2 + 6 561 c.493A>G c.(493-495)AAA>GAA p.K165E NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 165 Nuclear localization signal (Potential). nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) CCCCCTTCCTAAAAAGGTAAA 0.378 NaN 0 0 0 0.014323 0 22 120 ADNP 23394 broad.mit.edu 37 20 49510909 49510909 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:49510909G>A uc002xvt.1 - 5 687 c.342C>T c.(340-342)TTC>TTT p.F114F ADNP_uc002xvu.1_Silent_p.F114F NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 114 C2H2-type 2; atypical. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TGTCTGCATTGAAGGTACAGT 0.393 NaN 0 0 0 0.010771 0 43 115 BCAS1 8537 broad.mit.edu 37 20 52645077 52645077 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:52645077A>T uc002xws.2 - 4 915 c.577T>A c.(577-579)TTT>ATT p.F193I BCAS1_uc010zzb.1_Missense_Mutation_p.F96I|BCAS1_uc010gim.2_Missense_Mutation_p.F96I|BCAS1_uc002xwt.2_Missense_Mutation_p.F193I|BCAS1_uc010gil.1_Missense_Mutation_p.F193I|BCAS1_uc010zzc.1_Missense_Mutation_p.F96I NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 193 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TTGTCAAAAAAGCTGGAGTCC 0.562 NaN 0 0 0 0.01441 0 74 110 TFAP2C 7022 broad.mit.edu 37 20 55206484 55206484 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:55206484A>G uc002xya.2 + 2 515 c.272A>G c.(271-273)CAC>CGC p.H91R TFAP2C_uc010zzi.1_5'UTR NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 91 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) AACCCCCTGCACCAGCCGGCG 0.741 NaN 0 0 0 0.004672 0 3 7 LSM14B 149986 broad.mit.edu 37 20 60706476 60706476 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr20:60706476C>T uc010gjy.1 + 7 1106 c.900C>T c.(898-900)CCC>CCT p.P300P LSM14B_uc002ybv.2_Silent_p.P274P|LSM14B_uc010zzz.1_Silent_p.P220P NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 300 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCGAAGCGCCCGCTGAGGAAG 0.527 NaN 0 0 0 0.010504 0 21 25 TIAM1 7074 broad.mit.edu 37 21 32525013 32525013 + Nonsense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:32525013C>A uc002yow.1 - 20 3779 c.3307G>T c.(3307-3309)GAA>TAA p.E1103* TIAM1_uc011adk.1_Nonsense_Mutation_p.E1103*|TIAM1_uc011adl.1_Nonsense_Mutation_p.E1043* NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1103 DH. 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 ACTCCATCTTCTAGAGTTTTA 0.378 NaN 1 0 9.57634e-11 0.01892 1.00784e-10 25 57 MORC3 23515 broad.mit.edu 37 21 37741384 37741384 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:37741384A>G uc002yvi.2 + 15 1794 c.1718A>G c.(1717-1719)GAT>GGT p.D573G NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 573 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 GGTGATGATGATGATGAAGAT 0.378 NaN 0 0 0 0.011902 0 45 50 HLCS 3141 broad.mit.edu 37 21 38139583 38139583 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:38139583C>T uc010gnb.2 - 7 2656 c.1455G>A c.(1453-1455)CTG>CTA p.L485L HLCS_uc002yvs.2_Silent_p.L485L NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 485 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TCTGAAACATCAGCCTGCCGA 0.567 NaN 0 0 0 0.00245 0 14 56 HMGN1 3150 broad.mit.edu 37 21 40715063 40715063 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:40715063C>T uc002yxo.2 - 6 482 c.278G>A c.(277-279)GGA>GAA p.G93E HMGN1_uc002yxp.2_Missense_Mutation_p.E57K|HMGN1_uc002yxq.2_Missense_Mutation_p.E57K|HMGN1_uc002yxr.2_RNA NM_004965 NP_004956 P05114 HMGN1_HUMAN high-mobility group nucleosome binding domain 1 93 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(1) 1 Prostate(19;8.69e-07) TTCTTTCTCTCCTGCTTCATC 0.368 NaN 0 0 0 0.006214 0 9 44 DSCAM 1826 broad.mit.edu 37 21 42218552 42218552 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:42218552G>A uc002yyq.1 - 1 488 c.36C>T c.(34-36)TTC>TTT p.F12F DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 12 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACCATTCGCGAAGCTCTGGA 0.502 NaN 0 0 0 0.014758 0 5 2 RSPH1 89765 broad.mit.edu 37 21 43916272 43916272 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:43916272A>G uc002zbg.2 - 1 130 c.25T>C c.(25-27)TTG>CTG p.L9L SLC37A1_uc002zbh.1_RNA NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 9 meiosis cytosol|nucleus ovary(1) 1 TCCTCCTCCAACTCCTCCGAG 0.657 NaN 0 0 0 0.004007 0 13 36 DIP2A 23181 broad.mit.edu 37 21 47953951 47953951 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr21:47953951G>A uc002zjo.2 + 12 1647 c.1464G>A c.(1462-1464)GGG>GGA p.G488G DIP2A_uc011afy.1_Silent_p.G424G|DIP2A_uc011afz.1_Silent_p.G484G|DIP2A_uc002zjl.2_Silent_p.G488G|DIP2A_uc002zjm.2_Silent_p.G488G|DIP2A_uc010gql.2_Silent_p.G445G|DIP2A_uc002zjn.2_Silent_p.G488G|DIP2A_uc002zjp.1_Silent_p.G233G NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 488 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGATTGATGGGAAGCATCTAG 0.562 NaN 0 0 0 0.009096 0 4 16 CLTCL1 8218 broad.mit.edu 37 22 19222205 19222205 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:19222205C>T uc002zpb.2 - 7 1069 c.994G>A c.(994-996)GAT>AAT p.D332N CLTCL1_uc011agv.1_Missense_Mutation_p.D332N|CLTCL1_uc011agw.1_Missense_Mutation_p.D332N NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 332 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) ACAATGTTATCTTCCTCAACA 0.502 NaN T NaN ALCL 0 0 0 0.01441 0 48 30 CLTCL1 8218 broad.mit.edu 37 22 19222208 19222208 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:19222208C>T uc002zpb.2 - 7 1066 c.991G>A c.(991-993)GAA>AAA p.E331K CLTCL1_uc011agv.1_Missense_Mutation_p.E331K|CLTCL1_uc011agw.1_Missense_Mutation_p.E331K NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 331 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) ATGTTATCTTCCTCAACACAA 0.507 NaN T NaN ALCL 0 0 0 0.01441 0 50 31 LZTR1 8216 broad.mit.edu 37 22 21351029 21351029 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:21351029G>T uc002zto.2 + 19 2367 c.2264G>T c.(2263-2265)CGG>CTG p.R755L LZTR1_uc002ztn.2_Missense_Mutation_p.R714L|LZTR1_uc011ahy.1_Missense_Mutation_p.R736L|LZTR1_uc002ztp.2_Missense_Mutation_p.R61L NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 755 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TACAACAACCGGCTGCAGGCG 0.617 NaN 1 0 0.00121646 0.008871 0.00123238 19 9 SUSD2 56241 broad.mit.edu 37 22 24582315 24582315 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:24582315G>T uc002zzn.1 + 10 1618 c.1574G>T c.(1573-1575)GGA>GTA p.G525V NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 525 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AACAGGACCGGAGGTCTGGAG 0.652 NaN 1 0 3.59834e-05 0.001168 3.70076e-05 5 19 MTMR3 8897 broad.mit.edu 37 22 30394794 30394794 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:30394794G>C uc003agv.3 + 8 833 c.505G>C c.(505-507)GGT>CGT p.G169R MTMR3_uc003agu.3_Missense_Mutation_p.G169R|MTMR3_uc003agw.3_Missense_Mutation_p.G169R NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 169 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GGAGAGGATGGGTTTTGATAT 0.428 NaN 0 0 0 0.009096 0 4 12 MYH9 4627 broad.mit.edu 37 22 36745173 36745173 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:36745173C>G uc003apg.2 - 2 340 c.109G>C c.(109-111)GAC>CAC p.D37H MYH9_uc003api.1_Missense_Mutation_p.D37H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 37 Myosin head-like. 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 CCACTCTTGTCGGAAGGCACC 0.552 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.016723 0 12 18 CARD10 29775 broad.mit.edu 37 22 37904564 37904564 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:37904564C>T uc003asx.1 - 5 1038 c.1035G>A c.(1033-1035)GAG>GAA p.E345E CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.E59E|CARD10_uc003asy.1_Silent_p.E345E NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 345 Potential. activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) CCCACTGCAGCTCCCCCTGCA 0.697 NaN 0 0 0 0.009096 0 4 4 FAM83F 113828 broad.mit.edu 37 22 40415995 40415995 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:40415995G>A uc003ayk.1 + 3 856 c.762G>A c.(760-762)GTG>GTA p.V254V NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 254 breast(1) 1 GTGACAAAGTGGCCACTGGAT 0.587 NaN 0 0 0 0.009718 0 41 20 ACO2 50 broad.mit.edu 37 22 41913629 41913629 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:41913629C>G uc003bac.2 + 7 956 c.934C>G c.(934-936)CGG>GGG p.R312G ACO2_uc003bad.2_Missense_Mutation_p.R337G NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 312 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CAAGACCGGCCGGGAAGGTGA 0.567 NaN OREG0026588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014758 0 5 15 SERHL2 253190 broad.mit.edu 37 22 42952596 42952596 + Splice_Site SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:42952596T>A uc003bcr.2 + 6 525 c.423_splice c.e6+2 p.D141_splice SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Splice_Site_p.D127_splice|SERHL2_uc010gyz.2_Splice_Site_p.D77_splice|SERHL2_uc010gyy.2_Splice_Site|SERHL2_uc011apo.1_Splice_Site|RRP7B_uc003bcs.2_RNA NM_014509 NP_055324 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 perinuclear region of cytoplasm|peroxisome hydrolase activity 0 GAATCAGATGTGAGAAGCGGG 0.562 NaN 0 0 0 0.01441 0 38 83 ITPR1 3708 broad.mit.edu 37 3 4730215 4730215 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:4730215G>A uc003bqa.2 + 31 4060 c.3712G>A c.(3712-3714)GCT>ACT p.A1238T ITPR1_uc010hca.1_Missense_Mutation_p.A1223T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.A169T NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1247 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AATGAGGTTGGCTCATGAATT 0.468 NaN 0 0 0 0.008361 0 30 106 LMCD1 29995 broad.mit.edu 37 3 8607273 8607273 + Silent SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:8607273A>C uc003bqq.2 + 5 993 c.879A>C c.(877-879)GCA>GCC p.A293A LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 293 LIM zinc-binding 1. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) AGGATGGTGCACCCTGGTGCG 0.632 NaN 0 0 0 0.008291 0 7 18 OXTR 5021 broad.mit.edu 37 3 8809375 8809375 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:8809375C>T uc003brc.2 - 3 1121 c.499G>A c.(499-501)GCC>ACC p.A167T NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 167 Helical; Name=4; (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GGCGCGCTGGCCACCAGGCAG 0.716 NaN 0 0 0 0.012319 0 21 12 BRPF1 7862 broad.mit.edu 37 3 9785587 9785587 + Splice_Site SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:9785587T>C uc003bse.2 + 8 3016 c.2617_splice c.e8+2 p.G873_splice BRPF1_uc003bsf.2_Splice_Site_p.G879_splice|BRPF1_uc003bsg.2_Splice_Site_p.G872_splice|BRPF1_uc011ati.1_Splice_Site_p.D873_splice NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) CAAGCAAAGGTCTGAATCCCA 0.602 NaN 0 0 0 0.003163 0 15 20 CRELD1 78987 broad.mit.edu 37 3 9976525 9976525 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:9976525G>C uc003bug.2 + 3 299 c.181G>C c.(181-183)GAG>CAG p.E61Q CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.E61Q|CRELD1_uc003buh.2_Missense_Mutation_p.E61Q|CRELD1_uc003bui.2_Missense_Mutation_p.E61Q|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 61 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 CCAGGGCCTGGAGAGAACCAT 0.363 NaN 0 0 0 0.001984 0 7 15 FANCD2 2177 broad.mit.edu 37 3 10106445 10106445 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:10106445G>C uc003buw.2 + 23 2132 c.2054G>C c.(2053-2055)GGA>GCA p.G685A FANCD2_uc003bux.1_Missense_Mutation_p.G685A|FANCD2_uc003buy.1_Missense_Mutation_p.G685A|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 685 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GCACTGTACGGACTGGAAGAA 0.498 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.007291 0 28 97 FANCD2 2177 broad.mit.edu 37 3 10107147 10107147 + Missense_Mutation SNP C C A rs35817402 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:10107147C>A uc003buw.2 + 24 2316 c.2238C>A c.(2236-2238)AAC>AAA p.N746K FANCD2_uc003bux.1_Missense_Mutation_p.N746K|FANCD2_uc003buy.1_Missense_Mutation_p.N746K|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 746 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GACAGCATAACGGAAACTTGG 0.443 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 1 0 2.35188e-11 0.006122 2.48e-11 18 63 ATP2B2 491 broad.mit.edu 37 3 10400558 10400558 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:10400558G>A uc003bvt.2 - 14 2392 c.1953C>T c.(1951-1953)CGC>CGT p.R651R ATP2B2_uc003bvv.2_Silent_p.R606R|ATP2B2_uc003bvw.2_Silent_p.R606R|ATP2B2_uc010hdo.2_Silent_p.R356R NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 651 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CGTCCCGGTCGCGGGGCCGGA 0.632 NaN 0 0 0 0.013537 0 12 34 WNT7A 7476 broad.mit.edu 37 3 13916528 13916528 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:13916528C>T uc003bye.1 - 2 519 c.214G>A c.(214-216)GAG>AAG p.E72K NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 72 E -> K (in LPHAS). activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 AACTGACACTCGTCCAGGCCC 0.597 NaN 0 0 0 0.00499 0 18 35 TOP2B 7155 broad.mit.edu 37 3 25639947 25639947 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:25639947C>T uc003cdj.2 - 36 4717 c.4717G>A c.(4717-4719)GAT>AAT p.D1573N TOP2B_uc011awm.1_Missense_Mutation_p.D430N|TOP2B_uc010hff.1_Missense_Mutation_p.D439N NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 1578 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GAATCCTGATCAAAAGATGTC 0.383 NaN 0 0 0 0.006122 0 19 15 ZCWPW2 152098 broad.mit.edu 37 3 28562512 28562512 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:28562512G>A uc003ceh.2 + 9 982 c.814G>A c.(814-816)GAG>AAG p.E272K ZCWPW2_uc003cei.2_Missense_Mutation_p.E272K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E77K NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 272 zinc ion binding ovary(2) 2 TTTACTAAAAGAGCTGGAGCA 0.368 NaN 0 0 0 0.00308 0 8 32 DALRD3 55152 broad.mit.edu 37 3 49053759 49053759 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:49053759C>G uc003cvk.1 - 9 1181 c.1161G>C c.(1159-1161)CTG>CTC p.L387L DALRD3_uc003cvl.1_Silent_p.L387L|DALRD3_uc003cvm.1_Silent_p.L220L|DALRD3_uc010hko.1_Silent_p.L220L|DALRD3_uc011bca.1_Silent_p.L387L NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 387 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGCTGTCAGCCAGAGCCAGGA 0.547 NaN 0 0 0 0.004672 0 3 28 DUSP7 1849 broad.mit.edu 37 3 52089928 52089928 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:52089928G>C uc003dct.2 - 1 534 c.455C>G c.(454-456)TCC>TGC p.S152C DUSP7_uc010hma.2_Missense_Mutation_p.S152C NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 152 Rhodanese. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCCGAGCACGGAGGCGGGAGC 0.721 NaN 0 0 0 0.004672 0 3 4 PBRM1 55193 broad.mit.edu 37 3 52598157 52598157 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:52598157T>C uc003des.2 - 23 3796 c.3784A>G c.(3784-3786)AAT>GAT p.N1262D PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N1262D|PBRM1_uc003der.2_Missense_Mutation_p.N1230D|PBRM1_uc003det.2_Missense_Mutation_p.N1277D|PBRM1_uc003deu.2_Missense_Mutation_p.N1277D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N1262D|PBRM1_uc010hmk.1_Missense_Mutation_p.N1237D|PBRM1_uc003dey.2_Missense_Mutation_p.N1237D|PBRM1_uc003dez.1_Missense_Mutation_p.N1261D NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1262 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCGCTCTCATTGTAGCGGCTC 0.413 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 0.010818 0 34 28 DCP1A 55802 broad.mit.edu 37 3 53346282 53346282 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:53346282C>T uc003dgs.3 - 5 592 c.499G>A c.(499-501)GAG>AAG p.E167K DCP1A_uc003dgt.3_RNA NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN DCP1 decapping enzyme homolog A 167 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) CTCTCATACTCATCCTTGGCT 0.577 NaN 0 0 0 0.008871 0 19 24 CACNA2D3 55799 broad.mit.edu 37 3 54925415 54925415 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:54925415C>T uc003dhf.2 + 25 2232 c.2184C>T c.(2182-2184)CTC>CTT p.L728L CACNA2D3_uc003dhg.1_Silent_p.L634L|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 728 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTGCCTTCCTCGGCACTCGCA 0.532 NaN 0 0 0 0.012319 0 20 30 CCDC66 285331 broad.mit.edu 37 3 56598036 56598036 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:56598036G>A uc003dhz.2 + 4 514 c.427G>A c.(427-429)GAA>AAA p.E143K CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E109K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E143K NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 143 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) CATCACAGCTGAAAACATGAA 0.393 NaN 0 0 0 0.01892 0 23 29 PDE12 201626 broad.mit.edu 37 3 57542432 57542432 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:57542432C>T uc003diw.3 + 1 452 c.326C>T c.(325-327)TCA>TTA p.S109L PDE12_uc003div.2_Missense_Mutation_p.S109L NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 109 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) GCGGCCTGTTCAGGGCCGGGG 0.657 NaN 0 0 0 0.008871 0 20 12 PXK 54899 broad.mit.edu 37 3 58368279 58368279 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:58368279G>C uc003djz.1 + 4 339 c.240G>C c.(238-240)TTG>TTC p.L80F PXK_uc003djx.1_Missense_Mutation_p.L80F|PXK_uc003djy.1_Missense_Mutation_p.L63F|PXK_uc003dka.1_Missense_Mutation_p.L80F|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Missense_Mutation_p.L63F|PXK_uc011bfe.1_Missense_Mutation_p.L47F|PXK_uc010hnj.1_Missense_Mutation_p.L47F|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 80 PX. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) CCAAAAAATTGATTGGTAACA 0.343 NaN 0 0 0 0.004482 0 6 48 GXYLT2 727936 broad.mit.edu 37 3 72957678 72957678 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:72957678G>A uc003dpg.2 + 2 436 c.436G>A c.(436-438)GAA>AAA p.E146K NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 146 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 CATCTTCACTGAAGACTCTCT 0.463 NaN 0 0 0 0.012213 0 29 29 HTR1F 3355 broad.mit.edu 37 3 88040157 88040157 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:88040157A>G uc003dqr.2 + 2 416 c.258A>G c.(256-258)AGA>AGG p.R86R NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 86 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ATATTGTGAGAGAGAGCTGGA 0.468 NaN 0 0 0 0.014758 0 5 79 OR5H15 403274 broad.mit.edu 37 3 97887646 97887646 + Missense_Mutation SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:97887646T>G uc011bgu.1 + 1 103 c.103T>G c.(103-105)TAT>GAT p.Y35D NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTGGTAATATATCTCATCAC 0.408 NaN 0 0 0 0.01441 0 135 141 DRD3 1814 broad.mit.edu 37 3 113847578 113847578 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:113847578C>G uc003ebd.2 - 8 1611 c.1188G>C c.(1186-1188)AAG>AAC p.K396N DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 396 Cytoplasmic. K -> L (in Ref. 7; AAH95510). activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AAGACAGGATCTTGAGGAAGG 0.527 NaN 0 0 0 0.01441 0 95 169 CASR 846 broad.mit.edu 37 3 122003997 122003997 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:122003997G>C uc003eev.3 + 7 3568 c.3196G>C c.(3196-3198)GGT>CGT p.G1066R CASR_uc003eew.3_Missense_Mutation_p.G1076R NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 1066 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGTCATCAGTGGTGGAGGCAG 0.532 NaN 0 0 0 0.016522 0 23 51 DNAJC13 23317 broad.mit.edu 37 3 132169586 132169586 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:132169586C>G uc003eor.2 + 6 497 c.432C>G c.(430-432)ACC>ACG p.T144T DNAJC13_uc010htq.1_Silent_p.T144T NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 144 heat shock protein binding ovary(1)|breast(1) 2 ATCCTGCAACCAACAGAGTAC 0.358 NaN 0 0 0 0.012319 0 21 32 SMC4 10051 broad.mit.edu 37 3 160137191 160137191 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:160137191A>G uc003fdh.2 + 12 1830 c.1717A>G c.(1717-1719)AAA>GAA p.K573E IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.K337E|SMC4_uc003fdi.2_Missense_Mutation_p.K548E|SMC4_uc003fdj.2_Missense_Mutation_p.K573E|SMC4_uc010hwd.2_Missense_Mutation_p.K573E|SMC4_uc003fdl.2_Missense_Mutation_p.K276E NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 573 Potential. 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) AACAAACTTTAAAAGTTTGGT 0.308 NaN 0 0 0 0.014323 0 23 55 TRA2B 6434 broad.mit.edu 37 3 185638917 185638917 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:185638917G>A uc003fpv.2 - 6 973 c.697C>T c.(697-699)CGG>TGG p.R233W TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R133W|TRA2B_uc003fpw.2_Missense_Mutation_p.R233W NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 233 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 TAGTAGTCCCGATCATCATAG 0.428 NaN 0 0 0 0.01441 0 53 39 TMEM44 93109 broad.mit.edu 37 3 194344402 194344402 + Missense_Mutation SNP C C G rs143204807 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:194344402C>G uc010hzn.2 - 4 550 c.381G>C c.(379-381)AAG>AAC p.K127N TMEM44_uc003fue.2_Missense_Mutation_p.K127N|TMEM44_uc003fud.2_Missense_Mutation_p.K127N|TMEM44_uc003fuf.2_Missense_Mutation_p.K127N|TMEM44_uc011bsv.1_Missense_Mutation_p.K127N|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 127 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) GCCGCCTCCTCTTCCTCTCTC 0.617 NaN 0 0 0 0.006214 0 10 39 MUC4 4585 broad.mit.edu 37 3 195517279 195517279 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr3:195517279G>A uc011bto.1 - 2 1632 c.1172C>T c.(1171-1173)TCA>TTA p.S391L MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S273L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 396 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) GAACACCTTTGATGTTACCAG 0.453 NaN 0 0 0 0.01441 0 104 86 TACC3 10460 broad.mit.edu 37 4 1739043 1739043 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:1739043A>G uc003gdo.2 + 9 1932 c.1824A>G c.(1822-1824)GCA>GCG p.A608A TACC3_uc010ibz.2_Silent_p.A608A|TACC3_uc003gdp.2_Silent_p.A248A|TACC3_uc010ica.2_Silent_p.A25A NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 608 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TCTTGGGAGCACTGGACATTC 0.527 NaN 0 0 0 0.00308 0 7 24 HTT 3064 broad.mit.edu 37 4 3182340 3182340 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:3182340G>T uc011bvq.1 + 37 4862 c.4717G>T c.(4717-4719)GTG>TTG p.V1573L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1571 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) AAAAGAGGTGGTGGTGTCAAT 0.453 NaN 1 0 1.61788e-16 0.012213 1.71939e-16 35 34 ZBTB49 166793 broad.mit.edu 37 4 4301680 4301680 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:4301680C>T uc003ghu.2 + 2 183 c.8C>T c.(7-9)CCT>CTT p.P3L ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AGCATGGACCCTGTTGCTACC 0.468 NaN 0 0 0 0.009718 0 43 55 TBC1D14 57533 broad.mit.edu 37 4 6969151 6969151 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:6969151G>A uc011bwg.1 + 3 922 c.843G>A c.(841-843)AAG>AAA p.K281K TBC1D14_uc003gjs.3_Silent_p.K281K NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 281 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 GAATACAGAAGGTACACAAGA 0.393 NaN 0 0 0 0.016522 0 21 58 TAPT1 202018 broad.mit.edu 37 4 16164972 16164972 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:16164972C>G uc010ied.1 - 14 1744 c.1663G>C c.(1663-1665)GAG>CAG p.E555Q TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.E444Q NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 555 integral to membrane growth hormone-releasing hormone receptor activity 0 CTGTCTATCTCTAACAAATCT 0.433 NaN 0 0 0 0.012319 0 22 72 TAPT1 202018 broad.mit.edu 37 4 16175863 16175863 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:16175863C>G uc010ied.1 - 11 1281 c.1200G>C c.(1198-1200)CGG>CGC p.R400R TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.R289R NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 400 integral to membrane growth hormone-releasing hormone receptor activity 0 AGCCCATCCTCCGTGCTACAG 0.328 NaN 0 0 0 0.014758 0 5 4 ANAPC4 29945 broad.mit.edu 37 4 25384988 25384988 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:25384988A>G uc003gro.2 + 4 470 c.341A>G c.(340-342)CAT>CGT p.H114R ANAPC4_uc003grp.2_5'UTR NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 114 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TCCTGTATGCATTGGATGGAA 0.363 NaN 0 0 0 0.008871 0 18 55 KLB 152831 broad.mit.edu 37 4 39448239 39448239 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:39448239G>A uc003gua.2 + 4 1990 c.1893G>A c.(1891-1893)CTG>CTA p.L631L KLB_uc011byj.1_Silent_p.L622L NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 631 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GTGAGGGGCTGAAGCTTGGCA 0.627 NaN 0 0 0 0.007413 0 20 61 N4BP2 55728 broad.mit.edu 37 4 40123217 40123217 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:40123217T>C uc003guy.3 + 9 3824 c.3486T>C c.(3484-3486)ATT>ATC p.I1162I N4BP2_uc010ifq.2_Silent_p.I1082I|N4BP2_uc010ifr.2_Silent_p.I1082I NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1162 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TGAAAGAAATTATTAGCCAAA 0.378 NaN 0 0 0 0.00632 0 30 73 YTHDC1 91746 broad.mit.edu 37 4 69182123 69182123 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:69182123T>C uc003hdx.2 - 16 2221 c.1868A>G c.(1867-1869)TAT>TGT p.Y623C YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605C NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 623 Pro-rich. upper_aerodigestive_tract(1)|ovary(1) 2 ATGGTGCTGATAGTAAGGATG 0.448 NaN 0 0 0 0.01441 0 68 72 ANKRD17 26057 broad.mit.edu 37 4 74124115 74124115 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:74124115C>G uc003hgp.2 - 1 388 c.271G>C c.(271-273)GAC>CAC p.D91H ANKRD17_uc003hgq.2_Missense_Mutation_p.D91H|ANKRD17_uc003hgr.2_Missense_Mutation_p.D91H NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 91 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ttgtcgctgtcgctgctgcTT 0.403 NaN 0 0 0 0.004007 0 14 37 SHROOM3 57619 broad.mit.edu 37 4 77670237 77670237 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:77670237G>A uc011cbx.1 + 6 4774 c.3821G>A c.(3820-3822)GGA>GAA p.G1274E SHROOM3_uc003hkg.2_Missense_Mutation_p.G1052E NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1274 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GCTGGTCCTGGATCTAGGTAT 0.423 NaN 0 0 0 0.01441 0 66 60 PTPN13 5783 broad.mit.edu 37 4 87671723 87671723 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:87671723C>T uc003hpz.2 + 18 3231 c.2751C>T c.(2749-2751)CTC>CTT p.L917L PTPN13_uc003hpy.2_Silent_p.L917L|PTPN13_uc003hqa.2_Silent_p.L917L|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 917 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GCAGCACCCTCAACAAACTTG 0.478 NaN 0 0 0 0.007291 0 30 91 BANK1 55024 broad.mit.edu 37 4 102946407 102946407 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:102946407G>A uc003hvy.3 + 9 1609 c.1335G>A c.(1333-1335)CAG>CAA p.Q445Q BANK1_uc003hvx.3_Silent_p.Q430Q|BANK1_uc010ill.2_Silent_p.Q312Q|BANK1_uc003hvz.3_Silent_p.Q415Q NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 445 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CATACGGGCAGAGTGCAGATG 0.463 NaN 0 0 0 0.016522 0 25 64 SEC24D 9871 broad.mit.edu 37 4 119678896 119678896 + Silent SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:119678896G>T uc003ici.3 - 11 1673 c.1401C>A c.(1399-1401)ACC>ACA p.T467T SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.T468T|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 467 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 TTTCCAGCATGGTCTTCAGTT 0.358 NaN 1 0 2.20262e-25 0.013726 2.41176e-25 33 26 PCDH10 57575 broad.mit.edu 37 4 134071531 134071531 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:134071531T>C uc003iha.2 + 1 1062 c.236T>C c.(235-237)ATA>ACA p.I79T uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.I79T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 79 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AACGAGAAAATAGACCGCGAA 0.552 NaN 0 0 0 0.005443 0 28 68 OTUD4 54726 broad.mit.edu 37 4 146071800 146071800 + Nonsense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:146071800G>C uc003ika.3 - 13 1067 c.929C>G c.(928-930)TCA>TGA p.S310* OTUD4_uc003ijz.3_Nonsense_Mutation_p.S309* NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 374 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AGGTAGTGCTGATGGGGCTTT 0.423 NaN 0 0 0 0.004007 0 16 70 TRIM2 23321 broad.mit.edu 37 4 154216911 154216911 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:154216911C>T uc003ing.2 + 6 1353 c.1152C>T c.(1150-1152)AAC>AAT p.N384N TRIM2_uc003inh.2_Silent_p.N411N NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 384 Filamin. cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) TCCTGGACAACAAGAACGGCA 0.567 NaN 0 0 0 0.004007 0 15 27 DCHS2 54798 broad.mit.edu 37 4 155156345 155156345 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:155156345C>G uc003inw.2 - 25 8094 c.8094G>C c.(8092-8094)GTG>GTC p.V2698V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2698 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTCGGCAGTCACCATCACAT 0.552 NaN 0 0 0 0.012319 0 23 39 CTSO 1519 broad.mit.edu 37 4 156850779 156850779 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:156850779T>C uc003ipg.2 - 6 802 c.753A>G c.(751-753)CAA>CAG p.Q251Q NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 251 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CCAGATAATCTTGCCAGCTCA 0.413 NaN 0 0 0 0.004007 0 16 46 ADCY2 108 broad.mit.edu 37 5 7707855 7707855 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:7707855G>C uc003jdz.1 + 9 1372 c.1305G>C c.(1303-1305)TTG>TTC p.L435F ADCY2_uc011cmo.1_Missense_Mutation_p.L255F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 435 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGGAGCACTTGAATGGCGCTT 0.408 NaN 0 0 0 0.01441 0 90 56 SEMA5A 9037 broad.mit.edu 37 5 9119187 9119187 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:9119187C>T uc003jek.2 - 15 2560 c.1848G>A c.(1846-1848)CAG>CAA p.Q616Q NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 616 TSP type-1 2.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GCTGCCGCACCTGGAAGCCGA 0.652 NaN 0 0 0 0.00308 0 6 12 WDR70 55100 broad.mit.edu 37 5 37379640 37379640 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:37379640G>A uc003jkv.2 + 2 133 c.75G>A c.(73-75)ATG>ATA p.M25I WDR70_uc010iva.1_Missense_Mutation_p.M25I NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 25 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGGTCACCATGGGCTTCACGG 0.622 NaN 0 0 0 0.007291 0 30 40 SFRS12 140890 broad.mit.edu 37 5 65474672 65474672 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:65474672C>G uc003juo.2 + 13 2163 c.1503C>G c.(1501-1503)CTC>CTG p.L501L SFRS12_uc003jun.2_Silent_p.L617L|SFRS12_uc010iwy.2_Silent_p.L500L NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 501 mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) AAGAAAACCTCTCTACCAAAA 0.398 NaN 0 0 0 0.014323 0 22 51 BDP1 55814 broad.mit.edu 37 5 70818196 70818196 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:70818196G>A uc003kbp.1 + 23 5335 c.5072G>A c.(5071-5073)AGA>AAA p.R1691K BDP1_uc003kbo.2_Missense_Mutation_p.R1691K|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1691 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATTTGGGAAGAGCACACAGT 0.398 NaN 0 0 0 0.01441 0 80 65 EPB41L4A 64097 broad.mit.edu 37 5 111601977 111601977 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:111601977G>A uc003kpv.1 - 5 660 c.386C>T c.(385-387)CCC>CTC p.P129L EPB41L4A_uc003kpw.1_Missense_Mutation_p.P129L NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 129 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GACGGGACAGGGCAGACGGCC 0.453 NaN 0 0 0 0.014758 0 5 6 SRP19 6728 broad.mit.edu 37 5 112228423 112228423 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:112228423G>A uc011cvv.1 + 4 1417 c.1162G>A c.(1162-1164)GGC>AGC p.G388S SRP19_uc011cvu.1_Missense_Mutation_p.G373S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) CTCCTCCTTTGGCAAGAACTC 0.493 NaN 0 0 0 0.00499 0 18 44 P4HA2 8974 broad.mit.edu 37 5 131530659 131530659 + Silent SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:131530659T>A uc003kwh.2 - 14 2061 c.1497A>T c.(1495-1497)ACA>ACT p.T499T P4HA2_uc003kwg.2_Silent_p.T497T|P4HA2_uc003kwi.2_Silent_p.T497T|P4HA2_uc003kwk.2_Silent_p.T497T|P4HA2_uc003kwl.2_Silent_p.T499T|P4HA2_uc003kwj.2_Silent_p.T497T NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 499 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CAGCATGTCTTGTTCGGTAGT 0.532 NaN 0 0 0 0.010504 0 21 49 KDM3B 51780 broad.mit.edu 37 5 137750823 137750823 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:137750823A>G uc003lcy.1 + 12 3402 c.3202A>G c.(3202-3204)ACA>GCA p.T1068A KDM3B_uc010jew.1_Missense_Mutation_p.T724A|KDM3B_uc011cys.1_Missense_Mutation_p.T100A NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1068 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 ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 TATTTCAGAGACAGAAGAGAT 0.413 NaN 0 0 0 0.010729 0 10 37 PCDHB7 56129 broad.mit.edu 37 5 140553173 140553173 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:140553173G>A uc003lit.2 + 1 931 c.757G>A c.(757-759)GAA>AAA p.E253K NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 253 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGTGCCCGAAAATAGCCC 0.517 NaN 0 0 0 0.016522 0 22 63 PCDHGA2 56113 broad.mit.edu 37 5 140720625 140720625 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:140720625C>T uc003ljk.1 + 1 2272 c.2087C>T c.(2086-2088)GCG>GTG p.A696V PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A696V|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 696 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGTGGCGGTGGCCGCG 0.672 NaN 0 0 0 0.001168 0 6 151 SLC6A7 6534 broad.mit.edu 37 5 149588987 149588987 + Missense_Mutation SNP C C T rs144483863 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:149588987C>T uc003lrr.2 + 14 2091 c.1720C>T c.(1720-1722)CGG>TGG p.R574W NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 574 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) ACAGGCCAGCCGGCCGGCCAT 0.622 NaN 0 0 0 0.004007 0 15 44 ANXA6 309 broad.mit.edu 37 5 150483166 150483166 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:150483166C>T uc003ltl.1 - 25 2079 c.1927G>A c.(1927-1929)GAG>AAG p.E643K ANXA6_uc011dcp.1_Missense_Mutation_p.E611K|ANXA6_uc003ltm.1_Missense_Mutation_p.E637K|ANXA6_uc003ltn.1_Missense_Mutation_p.E430K|ANXA6_uc003lto.1_Missense_Mutation_p.E230K NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 643 Annexin 8. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCATATTTCTCAATGAATTCC 0.507 NaN 0 0 0 0.001984 0 7 15 EBF1 1879 broad.mit.edu 37 5 158223455 158223455 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:158223455C>T uc010jip.2 - 9 1109 c.807G>A c.(805-807)CCG>CCA p.P269P EBF1_uc011ddw.1_Silent_p.P137P|EBF1_uc011ddx.1_Silent_p.P270P|EBF1_uc003lxl.3_Silent_p.P238P NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 269 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCTTCACTCGGGCTGATGG 0.463 NaN T HMGA2 lipoma 0 0 0 0.008361 0 30 7 F12 2161 broad.mit.edu 37 5 176831360 176831360 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:176831360C>T uc003mgo.3 - 9 904 c.855G>A c.(853-855)CTG>CTA p.L285L F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 285 Kringle. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTCCCAGCTCAGCCGGTCGC 0.697 NaN Hereditary_Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006122 0 19 4 TRIM38 10475 broad.mit.edu 37 6 25967107 25967107 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:25967107A>G uc003nfm.2 + 3 792 c.357A>G c.(355-357)CCA>CCG p.P119P TRIM38_uc003nfn.2_Silent_p.P119P NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 119 B box-type. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 AGCGGGCACCACAGCACAAAG 0.557 NaN 0 0 0 0.00245 0 13 81 HIST1H4D 8360 broad.mit.edu 37 6 26189297 26189297 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:26189297C>G uc003ngu.2 - 1 8 c.8G>C c.(7-9)GGC>GCC p.G3A NM_003539 NP_003530 P62805 H4_HUMAN histone cluster 1, H4d 3 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CTTACCGCGGCCAGACATCTT 0.512 NaN 0 0 0 0.01441 0 82 39 PGBD1 84547 broad.mit.edu 37 6 28265744 28265744 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:28265744G>A uc003nky.2 + 6 1215 c.845G>A c.(844-846)GGA>GAA p.G282E PGBD1_uc003nkz.2_Missense_Mutation_p.G282E NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 282 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 GAACAAAGTGGAGAAGCCTCA 0.353 NaN 0 0 0 0.004482 0 9 76 MDC1 9656 broad.mit.edu 37 6 30673833 30673833 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:30673833G>A uc003nrg.3 - 10 3567 c.3127C>T c.(3127-3129)CCT>TCT p.P1043S MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P650S NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1043 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GGGGCTTCAGGTACTGTAGGA 0.532 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.013114 0 46 36 B3GALT4 8705 broad.mit.edu 37 6 33246314 33246314 + Missense_Mutation SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:33246314T>A uc003odr.2 + 1 1398 c.1118T>A c.(1117-1119)ATA>AAA p.I373K NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 373 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 TGTCGAGCAATAGCCTGGCTT 0.637 NaN 0 0 0 0.008871 0 19 121 ITPR3 3710 broad.mit.edu 37 6 33636829 33636829 + Silent SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:33636829G>T uc011drk.1 + 18 2304 c.2085G>T c.(2083-2085)ACG>ACT p.T695T NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 695 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TGTGGCTCACGTGGACTGACA 0.587 NaN 1 0 8.34094e-07 0.008871 8.62746e-07 21 83 UHRF1BP1 54887 broad.mit.edu 37 6 34791100 34791100 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:34791100C>A uc003oju.3 + 4 547 c.313C>A c.(313-315)CCC>ACC p.P105T UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 105 ovary(3) 3 TGGACAGTCTCCCATTGCCCT 0.413 NaN 1 0 1.19451e-25 0.01441 1.31058e-25 46 211 C6orf222 389384 broad.mit.edu 37 6 36287297 36287297 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:36287297C>G uc003oly.2 - 11 1937 c.1759G>C c.(1759-1761)GCT>CCT p.A587P NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 587 skin(2)|ovary(1)|breast(1) 4 GAGGAGTGAGCCACCTGGCTG 0.552 NaN 0 0 0 0.01441 0 74 24 STK38 11329 broad.mit.edu 37 6 36492140 36492140 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:36492140A>G uc003omg.2 - 3 872 c.284T>C c.(283-285)ATA>ACA p.I95T STK38_uc003omh.2_Missense_Mutation_p.I95T|STK38_uc003omi.2_Missense_Mutation_p.I95T NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 95 Protein kinase.|ATP (By similarity). intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 TCCTCTGCCTATTACTTTTAA 0.378 NaN 0 0 0 0.01441 0 96 24 TBC1D22B 55633 broad.mit.edu 37 6 37280749 37280749 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:37280749C>T uc003onn.2 + 9 1184 c.1038C>T c.(1036-1038)AGC>AGT p.S346S TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003ono.1_Silent_p.S4S|TBC1D22B_uc003onp.2_Silent_p.S4S NM_017772 NP_060242 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 346 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 OV - Ovarian serous cystadenocarcinoma(102;0.241) TGCTGCGAAGCATTGAGGCTG 0.478 NaN 0 0 0 0.01441 0 98 20 CD2AP 23607 broad.mit.edu 37 6 47512341 47512341 + Splice_Site SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:47512341G>A uc003oyw.2 + 4 776 c.320_splice c.e4-1 p.K107_splice NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ACTTTCTTTAGAGACCAAGAA 0.289 NaN 0 0 0 0.004007 0 17 84 GPR115 221393 broad.mit.edu 37 6 47682609 47682609 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:47682609A>G uc003oza.1 + 6 1886 c.1628A>G c.(1627-1629)TAC>TGC p.Y543C GPR115_uc003oyz.1_Missense_Mutation_p.Y600C|GPR115_uc003ozb.1_Missense_Mutation_p.Y541C NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 543 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GAGAAAGGCTACATGAGACCT 0.483 NaN 0 0 0 0.01441 0 147 84 DDX43 55510 broad.mit.edu 37 6 74104758 74104758 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:74104758A>G uc003pgw.2 + 1 474 c.130A>G c.(130-132)AGT>GGT p.S44G OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 44 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 TGAGGGATATAGTGTCGGCAG 0.627 NaN OREG0003900 type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.01441 0 67 22 IRAK1BP1 134728 broad.mit.edu 37 6 79577521 79577521 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:79577521C>T uc003pim.2 + 1 333 c.228C>T c.(226-228)AGC>AGT p.S76S IRAK1BP1_uc010kbg.1_RNA NM_001010844 NP_001010844 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 76 Intrinsically disordered. I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) GAGTGAGCAGCACCAAGGAGG 0.627 NaN 0 0 0 0.007413 0 19 4 BACH2 60468 broad.mit.edu 37 6 90660532 90660532 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:90660532C>T uc011eab.1 - 7 2102 c.1293G>A c.(1291-1293)GTG>GTA p.V431V BACH2_uc003pnw.2_Silent_p.V431V|BACH2_uc010kch.2_Silent_p.V431V NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 431 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AGGAGAAGATCACGCTCCTCC 0.592 NaN 0 0 0 0.01441 0 59 14 ASCC3 10973 broad.mit.edu 37 6 101037582 101037582 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:101037582A>T uc003pqk.2 - 36 5807 c.5478T>A c.(5476-5478)CAT>CAA p.H1826Q NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1826 SEC63 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TAACTGTTTGATGCTTCAAAT 0.348 NaN 0 0 0 0.01441 0 89 36 BEND3 57673 broad.mit.edu 37 6 107390828 107390828 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:107390828C>T uc003prs.2 - 5 2217 c.1567G>A c.(1567-1569)GGT>AGT p.G523S NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 523 ovary(3) 3 GAGCGGCGACCCGGCCGCTCG 0.637 NaN 0 0 0 0.005443 0 26 9 REV3L 5980 broad.mit.edu 37 6 111714085 111714085 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:111714085A>G uc003puy.3 - 5 979 c.656T>C c.(655-657)ATA>ACA p.I219T REV3L_uc003pux.3_Missense_Mutation_p.I141T|REV3L_uc003puz.3_Missense_Mutation_p.I141T NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 219 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) TAACCTTGGTATTTCATCTTG 0.313 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.006999 0 40 17 NCOA7 135112 broad.mit.edu 37 6 126236524 126236524 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:126236524C>G uc010kes.2 + 13 2591 c.2142C>G c.(2140-2142)GTC>GTG p.V714V NCOA7_uc003qae.3_Silent_p.V714V|NCOA7_uc003qah.2_Silent_p.V703V|NCOA7_uc003qai.2_Silent_p.V714V|NCOA7_uc010ket.2_Silent_p.V599V NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 714 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CTCCCGATGTCTATGGAAAAG 0.453 NaN 0 0 0 0.01441 0 81 28 TMEM181 57583 broad.mit.edu 37 6 159052852 159052852 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:159052852G>A uc003qrm.3 + 17 1782 c.1771G>A c.(1771-1773)GAG>AAG p.E591K NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 591 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GAGTGACTATGAGGAAATGCC 0.537 NaN 0 0 0 0.001168 0 6 4 FNDC1 84624 broad.mit.edu 37 6 159657323 159657323 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr6:159657323C>G uc010kjv.2 + 12 4244 c.4044C>G c.(4042-4044)ATC>ATG p.I1348M FNDC1_uc010kjw.1_Missense_Mutation_p.I1233M NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1348 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGAGAATTATCAATGGCCCTC 0.393 NaN 0 0 0 0.004007 0 16 19 FBXL18 80028 broad.mit.edu 37 7 5529800 5529800 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:5529800A>T uc003soo.2 - 5 2138 c.2044T>A c.(2044-2046)TTG>ATG p.L682M FBXL18_uc003son.3_Intron NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 682 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TCTTCTCGCAACTCTGTGAAC 0.647 NaN 0 0 0 0.00499 0 16 24 ICA1 3382 broad.mit.edu 37 7 8198209 8198209 + Missense_Mutation SNP A A T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:8198209A>T uc003srm.2 - 7 720 c.653T>A c.(652-654)CTT>CAT p.L218H ICA1_uc010ktr.2_Missense_Mutation_p.L218H|ICA1_uc003srl.2_Missense_Mutation_p.L206H|ICA1_uc003srn.3_Missense_Mutation_p.L144H|ICA1_uc003srp.3_Missense_Mutation_p.L217H|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L218H|ICA1_uc003srr.2_Missense_Mutation_p.L217H|ICA1_uc003sro.3_Missense_Mutation_p.L218H|ICA1_uc011jxg.1_Missense_Mutation_p.L218H|ICA1_uc003srs.1_Missense_Mutation_p.L218H NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 218 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.L218F(1) central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CGCTCCAAGAAGATCCACTTT 0.373 NaN 0 0 0 0.01441 0 58 80 ISPD 729920 broad.mit.edu 37 7 16415851 16415851 + Nonsense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:16415851G>A uc010ktx.2 - 3 550 c.550C>T c.(550-552)CGA>TGA p.R184* ISPD_uc010kty.2_Intron NM_001101426 NP_001094896 A4D126 ISPD_HUMAN notch1-induced protein isoform a 184 isoprenoid biosynthetic process nucleotidyltransferase activity ovary(1) 1 ACAAGAGGTCGAATGGCTCCT 0.433 NaN Multiple Myeloma(15;0.18) 0 0 0 0.008291 0 8 47 NFE2L3 9603 broad.mit.edu 37 7 26225326 26225326 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:26225326G>A uc003sxq.2 + 4 2280 c.2008G>A c.(2008-2010)GGA>AGA p.G670R NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 670 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 TACCCATGATGGAAGTATCTT 0.423 NaN 0 0 0 0.01441 0 56 88 AKAP9 10142 broad.mit.edu 37 7 91712680 91712680 + Missense_Mutation SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:91712680T>G uc003ulg.2 + 33 8582 c.8357T>G c.(8356-8358)CTG>CGG p.L2786R AKAP9_uc003ulf.2_Missense_Mutation_p.L2778R|AKAP9_uc003uli.2_Missense_Mutation_p.L2409R|AKAP9_uc003ulj.2_Missense_Mutation_p.L556R|AKAP9_uc003ulk.2_Missense_Mutation_p.L61R NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2798 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATGGGACTCTGAAGATCAGT 0.393 NaN T BRAF papillary thyroid 0 0 0 0.004878 0 37 54 PEX1 5189 broad.mit.edu 37 7 92118691 92118691 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:92118691G>A uc003uly.2 - 23 3779 c.3683C>T c.(3682-3684)GCT>GTT p.A1228V PEX1_uc011khr.1_Missense_Mutation_p.A1020V|PEX1_uc010ley.2_Missense_Mutation_p.A1171V|PEX1_uc011khs.1_Missense_Mutation_p.A906V NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1228 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CTGACTAATAGCCAGTCTGGT 0.363 NaN 0 0 0 0.00499 0 18 24 TRRAP 8295 broad.mit.edu 37 7 98495469 98495469 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:98495469G>C uc003upp.2 + 8 822 c.613G>C c.(613-615)GAG>CAG p.E205Q TRRAP_uc011kis.1_Missense_Mutation_p.E205Q|TRRAP_uc003upr.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 205 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCGGAGCGTGAGGACAGTGA 0.468 NaN 0 0 0 0.016522 0 23 118 SYPL1 6856 broad.mit.edu 37 7 105752637 105752637 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:105752637G>A uc003vdp.2 - 2 154 c.72C>T c.(70-72)ATC>ATT p.I24I SYPL1_uc003vdo.2_Silent_p.I6I NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 24 Cytoplasmic (Potential). synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 GGTTGAGGTTGATCTGGAAGC 0.507 NaN 0 0 0 0.013537 0 10 13 COG5 10466 broad.mit.edu 37 7 107194757 107194757 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:107194757G>C uc003ved.2 - 3 883 c.358C>G c.(358-360)CAA>GAA p.Q120E COG5_uc003vec.2_Missense_Mutation_p.Q120E|COG5_uc003vee.2_Missense_Mutation_p.Q120E NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 120 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 CCAGTTGCTTGTGCCAGTAAA 0.299 NaN 0 0 0 0.012319 0 20 27 UBE3C 9690 broad.mit.edu 37 7 156979626 156979626 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:156979626G>T uc010lqs.2 + 10 1554 c.1242G>T c.(1240-1242)AGG>AGT p.R414S UBE3C_uc003wnf.2_Missense_Mutation_p.R371S|UBE3C_uc003wng.2_Missense_Mutation_p.R414S NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 414 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGGTGTGGAGGGACTCTGCGA 0.562 NaN 1 0 0.00909568 0.009096 0.00914631 4 46 PPP1R3B 79660 broad.mit.edu 37 8 8998903 8998903 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:8998903C>G uc003wsn.3 - 2 424 c.259G>C c.(259-261)GAT>CAT p.D87H PPP1R3B_uc003wso.3_Missense_Mutation_p.D86H NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 87 glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AATGGCATATCTAGCGGGTCA 0.517 NaN 0 0 0 0.004878 0 36 66 PPP3CC 5533 broad.mit.edu 37 8 22355531 22355531 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:22355531G>T uc003xbs.2 + 4 717 c.390G>T c.(388-390)TGG>TGT p.W130C PPP3CC_uc003xbr.1_Missense_Mutation_p.W130C|PPP3CC_uc011kzi.1_Missense_Mutation_p.W130C|PPP3CC_uc003xbt.2_Missense_Mutation_p.W130C NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 130 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TGTATTTATGGAGTTTAAAGA 0.249 NaN 1 0 1.49906e-05 0.00245 1.54466e-05 13 23 FGFR1 2260 broad.mit.edu 37 8 38279401 38279401 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:38279401G>A uc003xlp.2 - 8 1937 c.995C>T c.(994-996)TCC>TTC p.S332F FGFR1_uc011lbo.1_Missense_Mutation_p.S330F|FGFR1_uc011lbp.1_Missense_Mutation_p.S243F|FGFR1_uc011lbq.1_Missense_Mutation_p.S241F|FGFR1_uc010lwk.2_Missense_Mutation_p.S324F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S172F|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.S363F|FGFR1_uc011lbv.1_Missense_Mutation_p.S330F|FGFR1_uc011lbw.1_Missense_Mutation_p.S243F|FGFR1_uc011lbx.1_Missense_Mutation_p.S243F NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 332 Ig-like C2-type 3.|Extracellular (Potential). S -> C (in KAL2). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GTCCTCAAAGGAGACATTTCT 0.488 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 0 0 0 0.004482 0 9 37 PRKDC 5591 broad.mit.edu 37 8 48771464 48771464 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:48771464C>T uc003xqi.2 - 48 6348 c.6291G>A c.(6289-6291)CTG>CTA p.L2097L PRKDC_uc003xqj.2_Silent_p.L2097L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2097 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) CCAGGGCCGTCAGGGGCGCCA 0.577 NaN NHEJ 0 0 0 0.009096 0 4 83 CHD7 55636 broad.mit.edu 37 8 61749497 61749497 + Missense_Mutation SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 T G T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:61749497T>G uc003xue.2 + 17 4588 c.4111T>G c.(4111-4113)TTA>GTA p.L1371V NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1371 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGCAGGAGGTTTAGGCATTAA 0.488 NaN 0 0 0 0.010818 0 33 95 UQCRB 7381 broad.mit.edu 37 8 97244136 97244136 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:97244136C>T uc003yhq.3 - 3 228 c.124G>A c.(124-126)GAA>AAA p.E42K UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA NM_006294 NP_006285 P14927 QCR7_HUMAN ubiquinol-cytochrome c reductase binding 42 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial respiratory chain ubiquinol-cytochrome-c reductase activity ovary(1) 1 Breast(36;5.16e-05) TTTACATCTTCATCCTCGTAT 0.363 NaN 0 0 0 0.009535 0 32 35 RIMS2 9699 broad.mit.edu 37 8 104897639 104897639 + Nonsense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:104897639C>G uc003yls.2 + 2 387 c.146C>G c.(145-147)TCA>TGA p.S49* RIMS2_uc003ylp.2_Nonsense_Mutation_p.S271*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.S79* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 302 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGATCTCCATCAGATTATGCT 0.418 NaN HNSCC(12;0.0054) 0 0 0 0.008871 0 19 55 ADCY8 114 broad.mit.edu 37 8 131896844 131896844 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:131896844G>A uc003ytd.3 - 8 2331 c.2075C>T c.(2074-2076)TCA>TTA p.S692L ADCY8_uc010mds.2_Missense_Mutation_p.S692L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 692 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAACATCAGTGAGAATGGCTT 0.458 NaN HNSCC(32;0.087) 0 0 0 0.013114 0 47 71 PLEC 5339 broad.mit.edu 37 8 144992514 144992514 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:144992514C>G uc003zaf.1 - 32 12056 c.11886G>C c.(11884-11886)CAG>CAC p.Q3962H PLEC_uc003zab.1_Missense_Mutation_p.Q3825H|PLEC_uc003zac.1_Missense_Mutation_p.Q3829H|PLEC_uc003zad.2_Missense_Mutation_p.Q3825H|PLEC_uc003zae.1_Missense_Mutation_p.Q3793H|PLEC_uc003zag.1_Missense_Mutation_p.Q3803H|PLEC_uc003zah.2_Missense_Mutation_p.Q3811H|PLEC_uc003zaj.2_Missense_Mutation_p.Q3852H NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3962 Globular 2.|Plectin 20. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGTAGCCACGCTGGTAAGCCA 0.682 NaN 0 0 0 0.004672 0 3 5 CYC1 1537 broad.mit.edu 37 8 145152190 145152190 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr8:145152190A>G uc003zaz.3 + 7 972 c.929A>G c.(928-930)AAG>AGG p.K310R CYC1_uc003zay.2_Missense_Mutation_p.K251R NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 310 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGCGGCACAAGTGGTCAGTC 0.582 NaN 0 0 0 0.006122 0 19 25 RANBP6 26953 broad.mit.edu 37 9 6014801 6014801 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:6014801C>T uc003zjr.2 - 1 818 c.807G>A c.(805-807)TTG>TTA p.L269L RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 269 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ACTTCAAACTCAACTGTAGAG 0.448 NaN 0 0 0 0.017118 0 37 59 KDM4C 23081 broad.mit.edu 37 9 6893118 6893118 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:6893118C>T uc003zkh.2 + 8 1387 c.807C>T c.(805-807)TTC>TTT p.F269F KDM4C_uc010mhu.2_Silent_p.F291F|KDM4C_uc010mhw.2_Silent_p.F269F|KDM4C_uc011lmi.1_Silent_p.F269F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.F269F|KDM4C_uc011lmk.1_Silent_p.F88F NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 269 JmjC. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CTGGAGAATTCATGATCACTT 0.338 NaN 0 0 0 0.01441 0 48 56 PTPRD 5789 broad.mit.edu 37 9 8460538 8460538 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:8460538C>T uc003zkk.2 - 32 4459 c.3748G>A c.(3748-3750)GTG>ATG p.V1250M PTPRD_uc003zkp.2_Missense_Mutation_p.V839M|PTPRD_uc003zkq.2_Missense_Mutation_p.V839M|PTPRD_uc003zkr.2_Missense_Mutation_p.V834M|PTPRD_uc003zks.2_Missense_Mutation_p.V829M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1241M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1237M|PTPRD_uc003zkn.2_Missense_Mutation_p.V839M|PTPRD_uc003zko.2_Missense_Mutation_p.V836M NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1250 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATTGACACCACGGGGTCGGAG 0.433 NaN TSP Lung(15;0.13) 0 0 0 0.012319 0 20 37 MPDZ 8777 broad.mit.edu 37 9 13109990 13109990 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:13109990G>C uc010mhy.2 - 43 5867 c.5816C>G c.(5815-5817)ACT>AGT p.T1939S MPDZ_uc003zkx.3_Missense_Mutation_p.T163S|MPDZ_uc003zky.3_Missense_Mutation_p.T502S|MPDZ_uc010mib.2_Missense_Mutation_p.T673S|MPDZ_uc010mhx.2_Missense_Mutation_p.T790S|MPDZ_uc011lmm.1_Missense_Mutation_p.T827S|MPDZ_uc003zkz.3_Missense_Mutation_p.T661S|MPDZ_uc010mhz.2_Missense_Mutation_p.T1935S|MPDZ_uc011lmn.1_Missense_Mutation_p.T1906S|MPDZ_uc003zlb.3_Missense_Mutation_p.T1939S NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1968 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CGTCAGCCCAGTGAAAGAAAG 0.453 NaN 0 0 0 0.010729 0 12 22 NFIB 4781 broad.mit.edu 37 9 14307393 14307393 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:14307393C>T uc003zle.2 - 2 592 c.157G>A c.(157-159)GAA>AAA p.E53K NFIB_uc003zlf.2_Missense_Mutation_p.E53K|NFIB_uc011lmo.1_Missense_Mutation_p.E53K NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 53 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GCTCTTTCTTCATCCTTTGAC 0.448 NaN T MYB|HGMA2 adenoid cystic carcinoma|lipoma 0 0 0 0.001984 0 7 66 DNAJB5 25822 broad.mit.edu 37 9 34997058 34997058 + Silent SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:34997058C>A uc003zvt.2 + 4 987 c.849C>A c.(847-849)ATC>ATA p.I283I DNAJB5_uc003zvs.2_Silent_p.I317I|DNAJB5_uc011los.1_Silent_p.I355I NM_012266 NP_036398 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 283 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(32;0.00575) TTCCCACTATCGACGGCCGAG 0.557 NaN 1 0 1.41504e-22 0.011902 1.54006e-22 41 199 C9orf85 138241 broad.mit.edu 37 9 74526714 74526714 + Missense_Mutation SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:74526714T>A uc004ain.2 + 1 292 c.64T>A c.(64-66)TTC>ATC p.F22I C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank NM_182505 NP_872311 Q96MD7 CI085_HUMAN hypothetical protein LOC138241 22 0 TACGTTTAGCTTCAAAAATGA 0.532 NaN 0 0 0 0.008361 0 32 150 ALDH1A1 216 broad.mit.edu 37 9 75533668 75533668 + Missense_Mutation SNP T T G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:75533668T>G uc004ajd.2 - 8 871 c.818A>C c.(817-819)AAG>ACG p.K273T ALDH1A1_uc011lsh.1_Missense_Mutation_p.K194T|ALDH1A1_uc011lsg.1_Missense_Mutation_p.K99T NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 273 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GCAAGGGCTCTTTCCTCCAAG 0.468 NaN 0 0 0 0.017118 0 35 63 GKAP1 80318 broad.mit.edu 37 9 86395319 86395319 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:86395319T>C uc004amy.2 - 7 1059 c.563A>G c.(562-564)GAT>GGT p.D188G GKAP1_uc004amz.2_Missense_Mutation_p.D188G|GKAP1_uc011lsu.1_RNA NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 isoform a 188 signal transduction Golgi apparatus 0 ACTAATGTGATCTGTAAATGA 0.244 NaN 0 0 0 0.016723 0 13 40 ZCCHC6 79670 broad.mit.edu 37 9 88967636 88967636 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:88967636G>C uc004aoq.2 - 2 694 c.479C>G c.(478-480)ACA>AGA p.T160R ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aou.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aov.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aow.2_Missense_Mutation_p.T160R|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T160R NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 160 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TTCTAGGCTTGTTAGGTCTTT 0.408 NaN 0 0 0 0.01441 0 52 126 SECISBP2 79048 broad.mit.edu 37 9 91963047 91963047 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:91963047G>A uc004aqj.1 + 12 1736 c.1656G>A c.(1654-1656)GTG>GTA p.V552V SECISBP2_uc011ltk.1_Silent_p.V551V|SECISBP2_uc004aqk.1_Silent_p.V479V|SECISBP2_uc010mqo.1_Silent_p.V257V|SECISBP2_uc011ltl.1_Silent_p.V484V NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 552 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 AAAATGCTGTGAGTCCAGCTT 0.388 NaN 0 0 0 0.016723 0 14 59 FANCC 2176 broad.mit.edu 37 9 97887396 97887396 + Missense_Mutation SNP A A C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:97887396A>C uc004avh.2 - 10 1230 c.968T>G c.(967-969)GTA>GGA p.V323G FANCC_uc004avi.3_Missense_Mutation_p.V323G|uc004avj.2_5'Flank NM_000136 NP_000127 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 323 protein complex assembly cytosol|nucleoplasm protein binding kidney(1) 1 Acute lymphoblastic leukemia(62;0.138) CAGAGCTTCTACAAAGCACTG 0.438 NaN D|Mis|N|F|S AML|leukemia Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.009096 0 4 35 TRIM14 9830 broad.mit.edu 37 9 100862212 100862212 + Splice_Site SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:100862212C>T uc004ayd.2 - 3 555 c.537_splice c.e3+1 p.Q179_splice TRIM14_uc004ayf.1_Splice_Site_p.Q86_splice|TRIM14_uc004ayg.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayh.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayi.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayj.1_Splice_Site_p.Q86_splice NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) CCCAGCATTACCTGAAGCCTC 0.502 NaN 0 0 0 0.005443 0 29 21 OR13C2 392376 broad.mit.edu 37 9 107367139 107367139 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:107367139A>G uc011lvq.1 - 1 770 c.770T>C c.(769-771)TTC>TCC p.F257S NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CATGTACATGAAGAGGATGGT 0.438 NaN 0 0 0 0.010818 0 34 89 SVEP1 79987 broad.mit.edu 37 9 113171084 113171084 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:113171084T>C uc010mtz.2 - 38 7133 c.6796A>G c.(6796-6798)AAA>GAA p.K2266E SVEP1_uc010mty.2_Missense_Mutation_p.K192E NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2266 Sushi 15. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGGGGAGGTTTTCCACAGTCG 0.488 NaN 0 0 0 0.005524 0 37 123 KIAA0368 23392 broad.mit.edu 37 9 114246813 114246813 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:114246813G>T uc004bfe.1 - 2 100 c.100C>A c.(100-102)CAG>AAG p.Q34K KIAA0368_uc010muc.1_5'Flank NM_001080398 NP_001073867 KIAA0368 protein 0 GGAGGTGGCTGGTGCTCCCAA 0.622 NaN 1 0 1.06961e-07 0.00308 1.11059e-07 8 22 CDK5RAP2 55755 broad.mit.edu 37 9 123163060 123163060 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:123163060G>A uc004bkf.2 - 35 5592 c.5411C>T c.(5410-5412)TCA>TTA p.S1804L CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S813L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1089L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1725L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1574L NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1804 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CTCGGGGAGTGAGACTCTCCA 0.587 NaN 0 0 0 0.006999 0 41 45 RC3H2 54542 broad.mit.edu 37 9 125613386 125613386 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:125613386C>G uc010mwc.1 - 20 3595 c.3354G>C c.(3352-3354)CAG>CAC p.Q1118H uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 1118 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 CACCTAAACTCTGTTTCTTCT 0.383 NaN 0 0 0 0.01441 0 46 147 TBC1D13 54662 broad.mit.edu 37 9 131568173 131568173 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:131568173C>T uc010myj.2 + 10 1077 c.954C>T c.(952-954)TTC>TTT p.F318F TBC1D13_uc010myk.2_Silent_p.F193F|TBC1D13_uc010myl.2_Silent_p.F137F NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 318 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 TCTTTGCCTTCCGCTGGCTGA 0.607 NaN 0 0 0 0.00499 0 16 13 TBC1D13 54662 broad.mit.edu 37 9 131568242 131568242 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:131568242C>G uc010myj.2 + 10 1146 c.1023C>G c.(1021-1023)CTC>CTG p.L341L TBC1D13_uc010myk.2_Silent_p.L216L|TBC1D13_uc010myl.2_Silent_p.L160L NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 341 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 GGGACTCCCTCTTCGCCGATG 0.582 NaN 0 0 0 0.00499 0 17 27 LRRC8A 56262 broad.mit.edu 37 9 131670865 131670865 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:131670865G>A uc004bwl.3 + 3 1676 c.1422G>A c.(1420-1422)CTG>CTA p.L474L LRRC8A_uc010myp.2_Silent_p.L474L|LRRC8A_uc010myq.2_Silent_p.L474L NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 474 LRR 5. pre-B cell differentiation integral to membrane 0 TCAAGGAGCTGTGGCTCTACC 0.622 NaN 0 0 0 0.014758 0 5 29 ASS1 445 broad.mit.edu 37 9 133370345 133370345 + Silent SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:133370345C>G uc004bzm.2 + 14 1418 c.1062C>G c.(1060-1062)CTC>CTG p.L354L ASS1_uc004bzn.2_Silent_p.L354L|ASS1_uc010mza.2_Silent_p.L430L|ASS1_uc004bzo.2_Silent_p.L335L|ASS1_uc010mzb.2_Silent_p.L392L|ASS1_uc004bzp.2_Silent_p.L354L|ASS1_uc010mzc.2_Silent_p.L354L NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 354 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TGTCCGTCCTCAAGGGCCAGG 0.592 NaN 0 0 0 0.008291 0 11 30 ABL1 25 broad.mit.edu 37 9 133738201 133738201 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:133738201C>T uc004bzw.2 + 4 604 c.601C>T c.(601-603)CAT>TAT p.H201Y ABL1_uc004bzv.2_Missense_Mutation_p.H220Y|uc004bzx.1_5'Flank NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 201 SH2. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GTTGGTTCATCATCATTCAAC 0.567 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 0.010504 0 22 47 BAT2L1 84726 broad.mit.edu 37 9 134308042 134308042 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:134308042G>A uc004can.3 + 2 209 c.154G>A c.(154-156)GCT>ACT p.A52T BAT2L1_uc004cam.1_Missense_Mutation_p.A52T NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 52 protein binding 0 TGGGAAAGTTGCTGCAGCCCG 0.522 NaN 0 0 0 0.00499 0 17 55 C9orf96 169436 broad.mit.edu 37 9 136253248 136253248 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:136253248C>T uc004cdk.2 + 5 373 c.312C>T c.(310-312)CTC>CTT p.L104L C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 104 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTCTGTACCTCTGCCTGGTGA 0.572 NaN 0 0 0 0.01892 0 23 25 SARDH 1757 broad.mit.edu 37 9 136599158 136599158 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:136599158C>T uc004cep.3 - 2 272 c.138G>A c.(136-138)CTG>CTA p.L46L SARDH_uc004ceo.2_Silent_p.L46L|SARDH_uc011mdn.1_Silent_p.L46L|SARDH_uc011mdo.1_Intron NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 46 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCCTCCTTCAGGGTCCGCT 0.692 NaN 0 0 0 0.010729 0 11 29 COL5A1 1289 broad.mit.edu 37 9 137711985 137711985 + Silent SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr9:137711985C>A uc004cfe.2 + 58 4852 c.4470C>A c.(4468-4470)CTC>CTA p.L1490L uc004cff.2_RNA NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1490 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGATCGGGCTCATCGGTCCTC 0.637 NaN 1 0 3.08376e-08 0.01892 3.21423e-08 22 62 SFRS17A 8227 broad.mit.edu 37 X 1719917 1719917 + Missense_Mutation SNP C C A rs149256056 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:1719917C>A uc004cqa.2 + 5 1714 c.1518C>A c.(1516-1518)GAC>GAA p.D506E SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 506 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGAGGCCGACGGCGCTCCCA 0.716 NaN 1 0 0.00621372 0.006214 0.00627157 9 32 VCX 26609 broad.mit.edu 37 X 7811787 7811787 + Silent SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:7811787G>A uc004crz.2 + 3 570 c.351G>A c.(349-351)GAG>GAA p.E117E NM_013452 NP_038480 Q9H320 VCX1_HUMAN variable charge, X chromosome 117 2.|10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding 0 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) TGAGTCAGGAGAGCGAGGTGG 0.637 NaN 0 0 0 0.01441 0 95 48 KAL1 3730 broad.mit.edu 37 X 8538598 8538598 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:8538598A>G uc004csf.2 - 7 1154 c.1004T>C c.(1003-1005)ATG>ACG p.M335T NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 335 Fibronectin type-III 2. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 ACTGCTGACCATCCAGCTCCA 0.517 NaN 0 0 0 0.003163 0 14 4 KLHL15 80311 broad.mit.edu 37 X 24006301 24006301 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:24006301C>T uc004dba.3 - 4 1808 c.1552G>A c.(1552-1554)GAG>AAG p.E518K NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 518 Kelch 4. ovary(1)|breast(1) 2 TGATCAGTCTCTGGGTTGTAT 0.478 NaN 0 0 0 0.01441 0 110 28 EIF2S3 1968 broad.mit.edu 37 X 24084129 24084129 + Missense_Mutation SNP G G C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:24084129G>C uc004dbc.2 + 8 808 c.787G>C c.(787-789)GAT>CAT p.D263H NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 263 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 TAGATCTTTTGATGTCAACAA 0.308 NaN 0 0 0 0.004656 0 27 46 TAB3 257397 broad.mit.edu 37 X 30873457 30873457 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:30873457G>A uc004dcj.2 - 6 988 c.325C>T c.(325-327)CCT>TCT p.P109S TAB3_uc004dck.2_Missense_Mutation_p.P109S|TAB3_uc010ngl.2_Missense_Mutation_p.P109S NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 109 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 GCATGCTGAGGATCAATATGT 0.453 NaN 0 0 0 0.008361 0 31 5 DMD 1756 broad.mit.edu 37 X 32382783 32382783 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:32382783G>T uc004dda.1 - 36 5314 c.5070C>A c.(5068-5070)CAC>CAA p.H1690Q DMD_uc004dcw.2_Missense_Mutation_p.H346Q|DMD_uc004dcx.2_Missense_Mutation_p.H349Q|DMD_uc004dcz.2_Missense_Mutation_p.H1567Q|DMD_uc004dcy.1_Missense_Mutation_p.H1686Q|DMD_uc004ddb.1_Missense_Mutation_p.H1682Q|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1690 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTTTGTGATGTGGTCCACAT 0.363 NaN 1 0 1.35964e-18 0.01441 1.46215e-18 52 12 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.008361 0 29 13 MAGIX 79917 broad.mit.edu 37 X 49022416 49022416 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:49022416C>T uc010nin.1 + 6 730 c.683C>T c.(682-684)CCG>CTG p.P228L MAGIX_uc010nio.1_Missense_Mutation_p.P152L|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.P169L|MAGIX_uc004dmw.2_Intron NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 228 0 TCCGTAGTCCCGTCATGGCCA 0.602 NaN 0 0 0 0.007291 0 28 9 FAM120C 54954 broad.mit.edu 37 X 54143101 54143101 + Missense_Mutation SNP T T A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:54143101T>A uc004dsz.3 - 10 2272 c.2189A>T c.(2188-2190)AAA>ATA p.K730I FAM120C_uc011moh.1_Missense_Mutation_p.K730I NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 730 ovary(1)|central_nervous_system(1) 2 TTCAACTGCTTTGCCTAGCCA 0.527 NaN 0 0 0 0.007835 0 40 14 ARHGEF9 23229 broad.mit.edu 37 X 62926191 62926191 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:62926191C>T uc004dvl.2 - 3 1167 c.328G>A c.(328-330)GAG>AAG p.E110K ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.E89K|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E89K|ARHGEF9_uc011mot.1_Missense_Mutation_p.E57K|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E117K NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 110 Interaction with GPHN (By similarity).|DH. 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 CTCATTATCTCATTGATGACA 0.532 NaN 0 0 0 0.009096 0 4 5 P2RY10 27334 broad.mit.edu 37 X 78216656 78216656 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:78216656C>T uc004ede.2 + 4 1008 c.639C>T c.(637-639)ATC>ATT p.I213I P2RY10_uc004edf.2_Silent_p.I213I NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 213 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CAGTGATCATCATCGCATGGT 0.478 NaN 0 0 0 0.01892 0 24 35 POF1B 79983 broad.mit.edu 37 X 84560911 84560911 + Silent SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:84560911A>G uc004eer.2 - 13 1469 c.1323T>C c.(1321-1323)TCT>TCC p.S441S POF1B_uc004ees.2_Silent_p.S441S NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 441 Potential. actin binding 0 TGCAAGTCTCAGAAACCTACA 0.363 NaN 0 0 0 0.007835 0 42 12 GPRASP1 9737 broad.mit.edu 37 X 101911854 101911854 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:101911854T>C uc004ejj.3 + 5 3814 c.3013T>C c.(3013-3015)TGG>CGG p.W1005R GPRASP1_uc004eji.3_Missense_Mutation_p.W1005R|GPRASP1_uc010nod.2_Missense_Mutation_p.W1005R NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1005 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AGTGGGGTCCTGGTTCTGGGC 0.512 NaN 0 0 0 0.01441 0 87 20 CAPN6 827 broad.mit.edu 37 X 110489911 110489911 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:110489911T>C uc004epc.1 - 13 1988 c.1820A>G c.(1819-1821)GAT>GGT p.D607G CAPN6_uc011msu.1_Missense_Mutation_p.D352G NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 607 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 AGACTTCAGATCACGGCAGTC 0.512 NaN 0 0 0 0.01441 0 53 9 CNGA2 1260 broad.mit.edu 37 X 150912796 150912796 + Silent SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrX:150912796C>T uc004fey.1 + 7 2045 c.1821C>T c.(1819-1821)AAC>AAT p.N607N NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 607 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGACCAACATGGAAACCT 0.572 NaN 0 0 0 0.01441 0 84 32 NLGN4Y 22829 broad.mit.edu 37 Y 16835002 16835002 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chrY:16835002C>T uc004ftg.2 + 3 730 c.478C>T c.(478-480)CAT>TAT p.H160Y NLGN4Y_uc004fte.2_5'UTR|NLGN4Y_uc011nas.1_Missense_Mutation_p.H180Y|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.H160Y|NLGN4Y_uc004fti.3_Missense_Mutation_p.H180Y NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 160 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 TCCAGATATTCATGAACAGAA 0.413 NaN 0 0 0 0.014758 0 5 40 PHLDA3 23612 broad.mit.edu 37 1 201437720 201437728 + In_Frame_Del DEL CTCCACGCA CTCCACGCA - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:201437720_201437728delCTCCACGCA uc001gwq.2 - 1 572_580 c.187_195delTGCGTGGAG c.(187-195)TGCGTGGAGdel p.CVE63del PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 63_65 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 GCCCGGTGCTCTCCACGCACTCCACGGCC 0.689 NaN NaN NaN NaN NaN NaN 10 55 --- --- IL19 29949 broad.mit.edu 37 1 207013293 207013294 + In_Frame_Ins INS - - ATC TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr1:207013293_207013294insATC uc001hep.2 + 5 1248_1249 c.309_310insATC c.(307-312)insATC p.104_105insI IL19_uc001heo.2_In_Frame_Ins_p.142_143insI|IL19_uc010prx.1_In_Frame_Ins_p.104_105insI NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 104_105 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) TCTTGAGAAAAATCAGCAGCAT 0.505 NaN NaN NaN NaN NaN NaN 57 102 --- --- ADM 133 broad.mit.edu 37 11 10327868 10327888 + Splice_Site DEL CCCGCCCGCAGCAGTCCGGAT CCCGCCCGCAGCAGTCCGGAT - rs2228573 byFrequency TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT uc001mik.1 + 3 866 c.249_splice c.e3-1 p.S83_splice ADM_uc001mil.1_Splice_Site_p.S83_splice|ADM_uc001mim.1_Splice_Site_p.S36_splice NM_001124 NP_001115 P35318 ADML_HUMAN adrenomedullin precursor blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1) 1 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) TCCCCCTCCCCCCGCCCGCAGCAGTCCGGATGCCGCCCGCA 0.638 NaN NaN NaN NaN NaN NaN 14 22 --- --- E2F8 79733 broad.mit.edu 37 11 19259556 19259570 + In_Frame_Del DEL TGGTAGGTGTGGTTA TGGTAGGTGTGGTTA - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr11:19259556_19259570delTGGTAGGTGTGGTTA uc001mpm.2 - 3 647_661 c.125_139delTAACCACACCTACCA c.(124-141)TTAACCACACCTACCAAG>TAG p.42_47LTTPTK>* E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_In_Frame_Del_p.42_47LTTPTK>*|E2F8_uc001mpo.1_In_Frame_Del_p.42_47LTTPTK>* NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 42_47 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TCCTTGGGCTTGGTAGGTGTGGTTAAAGGGCCAAA 0.502 NaN NaN NaN NaN NaN NaN 70 96 --- --- CPSF6 11052 broad.mit.edu 37 12 69652399 69652416 + In_Frame_Del DEL GGTCCTCCAGGCCCACCT GGTCCTCCAGGCCCACCT - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT uc001sut.3 + 6 834_851 c.724_741delGGTCCTCCAGGCCCACCT c.(724-741)GGTCCTCCAGGCCCACCTdel p.GPPGPP248del CPSF6_uc001suu.3_In_Frame_Del_p.GPPGPP285del|CPSF6_uc010stk.1_5'UTR NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 248_253 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) TCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAG 0.491 NaN NaN NaN NaN NaN NaN 7 71 --- --- ZC3H13 23091 broad.mit.edu 37 13 46619528 46619529 + Frame_Shift_Ins INS - - TGCTGTACTGCCAG TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr13:46619528_46619529insTGCTGTACTGCCAG uc010tfw.1 - 1 120_121 c.114_115insCTGGCAGTACAGCA c.(112-117)GCAGAGfs p.A38fs ZC3H13_uc001vas.1_Frame_Shift_Ins_p.A38fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.A38fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 38_39 C3H1-type. 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) CAACTCACCTCTGCTGTACTGC 0.416 NaN NaN NaN NaN NaN NaN 25 178 --- --- CCDC33 80125 broad.mit.edu 37 15 74628313 74628317 + Frame_Shift_Del DEL GCCCC GCCCC - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr15:74628313_74628317delGCCCC uc002axo.2 + 19 2581_2585 c.2187_2191delGCCCC c.(2185-2193)GAGCCCCTGfs p.E729fs CCDC33_uc002axp.2_Intron|CCDC33_uc002axq.2_3'UTR|CCDC33_uc002axr.2_3'UTR NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 932_934 protein binding ovary(3)|skin(2) 5 CAGAGCTGGAGCCCCTGCTGCCCAG 0.634 NaN NaN NaN NaN NaN NaN 22 65 --- --- DNAH3 55567 broad.mit.edu 37 16 21042362 21042366 + Splice_Site DEL CTTAC CTTAC - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr16:21042362_21042366delCTTAC uc010vbe.1 - 37 5439 c.5439_splice c.e37+1 p.K1813_splice NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGGGTCAATACTTACCTTTTTATTG 0.332 NaN NaN NaN NaN NaN NaN 32 23 --- --- TP53 7157 broad.mit.edu 37 17 7572963 7572963 + Frame_Shift_Del DEL T T - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 T - T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:7572963delT uc002gim.2 - 11 1340 c.1146delA c.(1144-1146)AAAfs p.K382fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.K250fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.K382fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 382 Basic (repression of DNA-binding).|Interaction with CARM1. K->R: Abolishes monomethylation by SETD8.|K->A: Abolishes acetylation by CREBBP. 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.K382fs*40(3)|p.K382fs*13(2)|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) TGAACATGAGTTTTTTATGGC 0.527 111 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) NaN NaN NaN NaN NaN 62 88 --- --- NFE2L1 4779 broad.mit.edu 37 17 46133814 46133814 + Frame_Shift_Del DEL G G - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr17:46133814delG uc002imz.3 + 3 1228 c.577delG c.(577-579)GACfs p.D193fs NFE2L1_uc002ina.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc010wle.1_Frame_Shift_Del_p.D35fs|NFE2L1_uc010wlf.1_Frame_Shift_Del_p.D67fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.D182fs NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 193 Asp/Glu-rich (acidic). anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 TGAGGTTTTTGACTATAGTCA 0.547 NaN NaN NaN NaN NaN NaN 73 288 --- --- CXXC1 30827 broad.mit.edu 37 18 47812527 47812533 + Frame_Shift_Del DEL CCCTCCA CCCTCCA - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr18:47812527_47812533delCCCTCCA uc002leq.3 - 4 1051_1057 c.318_324delTGGAGGG c.(316-324)GGTGGAGGGfs p.G106fs CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Frame_Shift_Del_p.G106fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.G106fs|CXXC1_uc002les.2_Frame_Shift_Del_p.G106fs NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 106_108 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GCCTCTTGCGCCCTCCACCCTCATCCC 0.638 NaN NaN NaN NaN NaN NaN 39 62 --- --- CYP4F3 4051 broad.mit.edu 37 19 15757870 15757874 + Frame_Shift_Del DEL GTACC GTACC - rs150284363 TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:15757870_15757874delGTACC uc002nbj.2 + 4 402_406 c.352_356delGTACC c.(352-357)GTACCAfs p.V118fs CYP4F3_uc010xok.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xol.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 118_119 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 AGCTGCCATTGTACCAAAGGACAAG 0.566 NaN NaN NaN NaN NaN NaN 20 79 --- --- HAMP 57817 broad.mit.edu 37 19 35773490 35773501 + In_Frame_Del DEL AGCTCCCAGATC AGCTCCCAGATC - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:35773490_35773501delAGCTCCCAGATC uc002nyw.2 + 1 81_92 c.10_21delAGCTCCCAGATC c.(10-21)AGCTCCCAGATCdel p.SSQI4del NM_021175 NP_066998 P81172 HEPC_HUMAN hepcidin antimicrobial peptide preproprotein 4_7 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity central_nervous_system(1) 1 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GATGGCACTGAGCTCCCAGATCTGGGCCGCTT 0.623 NaN NaN NaN NaN NaN NaN 32 131 --- --- SLC27A5 10998 broad.mit.edu 37 19 59010912 59010912 + Frame_Shift_Del DEL G G - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr19:59010912delG uc002qtc.2 - 7 1724 c.1614delC c.(1612-1614)GCCfs p.A538fs SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 538 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGCGGTCCATGGCCAGTACGT 0.692 NaN NaN NaN NaN NaN NaN 33 45 --- --- CABIN1 23523 broad.mit.edu 37 22 24572198 24572215 + In_Frame_Del DEL GCAGAGGCTGCCCTGGGC GCAGAGGCTGCCCTGGGC - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC uc002zzi.1 + 35 6287_6304 c.6160_6177delGCAGAGGCTGCCCTGGGC c.(6160-6177)GCAGAGGCTGCCCTGGGCdel p.AEAALG2054del CABIN1_uc002zzj.1_In_Frame_Del_p.AEAALG1975del|CABIN1_uc002zzl.1_In_Frame_Del_p.AEAALG2054del|CABIN1_uc010gul.1_Intron NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2054_2059 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTG 0.693 NaN NaN NaN NaN NaN NaN 7 2 --- --- SOX10 6663 broad.mit.edu 37 22 38374040 38374040 + Frame_Shift_Del DEL C C - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr22:38374040delC uc003aun.1 - 3 809 c.531delG c.(529-531)CGGfs p.R177fs POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.R177fs NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 177 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) CGTTCTTCCGCCGCCTGGGCT 0.667 NaN NaN NaN NaN NaN NaN 9 10 --- --- ZFYVE28 57732 broad.mit.edu 37 4 2273431 2273439 + In_Frame_Del DEL GCCAGTTCA GCCAGTTCA - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:2273431_2273439delGCCAGTTCA uc003gex.1 - 11 2710_2718 c.2391_2399delTGAACTGGC c.(2389-2400)TCTGAACTGGCA>TCA p.ELA798del ZFYVE28_uc011bvk.1_In_Frame_Del_p.ELA728del|ZFYVE28_uc011bvl.1_In_Frame_Del_p.ELA768del|ZFYVE28_uc003gew.1_In_Frame_Del_p.ELA684del NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 798_800 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GGTCTTGGCTGCCAGTTCAGAGGATGACA 0.627 NaN NaN NaN NaN NaN NaN 40 128 --- --- SLC10A4 201780 broad.mit.edu 37 4 48485996 48486009 + Frame_Shift_Del DEL CTGCTGGCAGCGCT CTGCTGGCAGCGCT - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:48485996_48486009delCTGCTGGCAGCGCT uc003gyc.2 + 1 637_650 c.418_431delCTGCTGGCAGCGCT c.(418-432)CTGCTGGCAGCGCTCfs p.L140fs NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 140_144 Helical; (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 CGTGGGCGCGCTGCTGGCAGCGCTCTGCCAGTTC 0.715 NaN NaN NaN NaN NaN NaN 4 5 --- --- FHDC1 85462 broad.mit.edu 37 4 153896047 153896048 + Frame_Shift_Ins INS - - C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr4:153896047_153896048insC uc003inf.2 + 11 1679_1680 c.1604_1605insC c.(1603-1605)AACfs p.N535fs NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 535 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CGGCCCCCGAACACCCGCCGCT 0.663 NaN NaN NaN NaN NaN NaN 4 6 --- --- DNAH5 1767 broad.mit.edu 37 5 13841840 13841848 + In_Frame_Del DEL ACCTGTTTC ACCTGTTTC - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:13841840_13841848delACCTGTTTC uc003jfd.2 - 33 5479_5487 c.5437_5445delGAAACAGGT c.(5437-5445)GAAACAGGTdel p.ETG1813del NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1813_1815 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) TTAGTTGGAAACCTGTTTCTTGAATATTT 0.344 NaN Kartagener_syndrome NaN NaN NaN NaN NaN 24 76 --- --- AFF4 27125 broad.mit.edu 37 5 132216839 132216840 + Frame_Shift_Ins INS - - T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:132216839_132216840insT uc003kyd.2 - 21 3811_3812 c.3403_3404insA c.(3403-3405)ATCfs p.I1135fs AFF4_uc011cxk.1_Frame_Shift_Ins_p.I813fs NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 1135 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCATTAAAGATGAGAGGGCCC 0.381 NaN NaN NaN NaN NaN NaN 15 30 --- --- PCDHGC4 56098 broad.mit.edu 37 5 140865328 140865328 + Frame_Shift_Del DEL G G - TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr5:140865328delG uc003lky.1 + 1 588 c.588delG c.(586-588)CTGfs p.L196fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Frame_Shift_Del_p.L196fs NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 196 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGCTCCTGGAGAAGCCTT 0.587 NaN NaN NaN NaN NaN NaN 10 56 --- --- INTS1 26173 broad.mit.edu 37 7 1517411 1517412 + Frame_Shift_Ins INS - - C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:1517411_1517412insC uc003skn.2 - 34 4892_4893 c.4791_4792insG c.(4789-4794)GGGAAGfs p.G1597fs INTS1_uc003skm.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1597_1598 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCACCCGGCTTCCCCCCAGCCA 0.693 NaN NaN NaN NaN NaN NaN 20 27 --- --- GIMAP2 26157 broad.mit.edu 37 7 150390132 150390133 + Frame_Shift_Ins INS - - CACAC TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e399c9d1-d101-470f-8d30-af5ec870e95a babe33dd-2e55-4cc6-bb64-00b6fd1106f3 g.chr7:150390132_150390133insCACAC uc003who.2 + 3 846_847 c.758_759insCACAC c.(757-759)TACfs p.Y253fs GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 253 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAAGAAGTTACACAGCCTTGG 0.371 NaN NaN NaN NaN NaN NaN 14 71 --- ---