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 MIB2 142678 broad.mit.edu 37 1 1564037 1564037 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:1564037C>G uc001agg.2 + 16 2438 c.2311C>G c.(2311-2313)CAG>GAG p.Q771E MIB2_uc001agh.2_Missense_Mutation_p.Q757E|MIB2_uc001agi.2_Missense_Mutation_p.Q767E|MIB2_uc001agj.2_Missense_Mutation_p.Q612E|MIB2_uc001agk.2_Missense_Mutation_p.Q706E|MIB2_uc001agl.1_Missense_Mutation_p.Q727E|MIB2_uc001agm.2_Missense_Mutation_p.Q648E|MIB2_uc010nyq.1_Missense_Mutation_p.Q727E|MIB2_uc009vkh.2_Missense_Mutation_p.Q577E|MIB2_uc001agn.2_Missense_Mutation_p.Q403E|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 771 ANK 8. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCAGCGTCATCAGCTGCTGCC 0.701 NaN 0 0 0 0.000248 0 4 5 MEGF6 1953 broad.mit.edu 37 1 3421837 3421837 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:3421837T>C uc001akl.2 - 17 2350 c.2123A>G c.(2122-2124)GAC>GGC p.D708G MEGF6_uc001akk.2_Missense_Mutation_p.D603G NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 708 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCTCACGGAGTCACAGGCCAC 0.692 NaN 0 0 0 0.001168 0 6 35 NOL9 79707 broad.mit.edu 37 1 6589194 6589194 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:6589194G>C uc001ans.2 - 10 1704 c.1685C>G c.(1684-1686)TCT>TGT p.S562C NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 562 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GGCGACATCAGAGTGGGTAAT 0.468 NaN 0 0 0 0.001984 0 6 46 RERE 473 broad.mit.edu 37 1 8424172 8424172 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:8424172C>G uc001ape.2 - 16 2494 c.1684G>C c.(1684-1686)GAG>CAG p.E562Q RERE_uc001apf.2_Missense_Mutation_p.E562Q|RERE_uc010nzx.1_Missense_Mutation_p.E294Q|RERE_uc001apd.2_Missense_Mutation_p.E8Q NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 562 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCATCATCCTCTTCCTTGACG 0.587 NaN 0 0 0 0.001855 0 13 77 SLC25A33 84275 broad.mit.edu 37 1 9633411 9633411 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:9633411C>A uc001apw.2 + 5 646 c.423C>A c.(421-423)ATC>ATA p.I141I SLC25A33_uc001apx.2_Silent_p.I74I NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 141 Solcar 2.|Helical; Name=3; (Potential). transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|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;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CAGCTTTTATCACAAATTCCT 0.294 NaN 1 0 0.00116845 0.001168 0.0013894 6 20 SRM 6723 broad.mit.edu 37 1 11116794 11116794 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:11116794C>A uc001arz.1 - 4 493 c.402G>T c.(400-402)AAG>AAT p.K134N SRM_uc001ary.1_5'UTR NM_003132 NP_003123 P19623 SPEE_HUMAN spermidine synthase 134 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity 0 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) GCAGGAACTTCTTGGAGACTT 0.577 NaN 1 0 6.40141e-05 0.000978 7.64982e-05 11 48 VPS13D 55187 broad.mit.edu 37 1 12326961 12326961 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:12326961C>G uc001atv.2 + 14 1759 c.1618C>G c.(1618-1620)CTT>GTT p.L540V VPS13D_uc001atw.2_Missense_Mutation_p.L540V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 540 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) AGCAGAGTCTCTTCCTCGAAG 0.368 NaN 0 0 0 0.001882 0 22 42 VPS13D 55187 broad.mit.edu 37 1 12336868 12336868 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:12336868G>C uc001atv.2 + 19 3364 c.3223G>C c.(3223-3225)GAG>CAG p.E1075Q VPS13D_uc001atw.2_Missense_Mutation_p.E1075Q|VPS13D_uc001atx.2_Missense_Mutation_p.E263Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1075 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) TCTTACCAAAGAGCAAGAGTC 0.438 NaN OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.002836 0 32 80 ARHGEF19 128272 broad.mit.edu 37 1 16532692 16532692 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:16532692G>C uc001ayc.1 - 7 1418 c.1281C>G c.(1279-1281)GTC>GTG p.V427V ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 427 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGCTCTTGACCTCGGGCA 0.647 NaN 0 0 0 0.001984 0 5 14 KLHDC7A 127707 broad.mit.edu 37 1 18808555 18808555 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:18808555C>T uc001bax.2 + 1 1132 c.1080C>T c.(1078-1080)TTC>TTT p.F360F KLHDC7A_uc009vpg.2_Silent_p.F142F NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 360 Kelch 1. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCGAGGCTTCAGCCGGAAGG 0.692 NaN 0 0 0 0.00308 0 5 23 UBR4 23352 broad.mit.edu 37 1 19494588 19494588 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:19494588G>T uc001bbi.2 - 28 3836 c.3832C>A c.(3832-3834)CTG>ATG p.L1278M UBR4_uc001bbm.1_Missense_Mutation_p.L489M NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1278 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) GCCAGGGGCAGACTTTGGCTA 0.512 NaN 1 0 6.05902e-23 0.003755 7.72123e-23 36 78 CLIC4 25932 broad.mit.edu 37 1 25167380 25167380 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:25167380G>A uc001bjo.2 + 6 999 c.714G>A c.(712-714)AAG>AAA p.K238K CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Silent_p.K218K NM_013943 NP_039234 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 238 GST C-terminal. cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CCAGTGATAAGGAGGTTGAAA 0.398 NaN 0 0 0 0.004878 0 34 78 FAM46B 115572 broad.mit.edu 37 1 27332842 27332842 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:27332842G>A uc010ofj.1 - 2 1043 c.871C>T c.(871-873)CGG>TGG p.R291W NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 291 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GGCCGGGGCCGGAAGCCCCGC 0.677 NaN 0 0 0 0.00308 0 7 33 TAF12 6883 broad.mit.edu 37 1 28931934 28931934 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:28931934C>T uc001bqw.2 - 4 493 c.400G>A c.(400-402)GAA>AAA p.E134K TAF12_uc001bqx.2_Missense_Mutation_p.E134K|TAF12_uc001bqy.2_Missense_Mutation_p.E134K|TAF12_uc009vti.2_Missense_Mutation_p.E134K NM_005644 NP_005635 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding 134 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGGATTTCTTCAGAGCCAAAT 0.517 NaN 0 0 0 0.003271 0 35 88 CCDC28B 79140 broad.mit.edu 37 1 32669900 32669900 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:32669900G>C uc001bul.1 + 4 577 c.445G>C c.(445-447)GAG>CAG p.E149Q CCDC28B_uc001buk.2_Missense_Mutation_p.E149Q|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 149 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAAGAGGAAGAGGATGGGGT 0.582 NaN 0 0 0 0.006214 0 9 55 CSMD2 114784 broad.mit.edu 37 1 33985159 33985159 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:33985159C>T uc001bxn.1 - 69 10452 c.10423G>A c.(10423-10425)GAG>AAG p.E3475K CSMD2_uc001bxm.1_Missense_Mutation_p.E3619K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3475 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACTCCGCCTCGCTGGCCATG 0.612 NaN 0 0 0 0.002222 0 44 178 CLSPN 63967 broad.mit.edu 37 1 36202663 36202663 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:36202663G>C uc001bzi.2 - 24 3841 c.3761C>G c.(3760-3762)TCA>TGA p.S1254* CLSPN_uc009vux.2_Nonsense_Mutation_p.S1190* NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 1254 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTAGCAGTGAGCCTGTCTT 0.463 NaN 0 0 0 0.001523 0 21 107 MRPS15 64960 broad.mit.edu 37 1 36927747 36927747 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:36927747C>T uc001cas.2 - 3 357 c.193G>A c.(193-195)GAT>AAT p.D65N NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 65 GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTGGGTCATCATCCAGCCTA 0.537 NaN 0 0 0 0.002096 0 31 39 EPHA10 284656 broad.mit.edu 37 1 38192827 38192827 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:38192827G>A uc009vvi.2 - 8 1805 c.1719C>T c.(1717-1719)ATC>ATT p.I573I EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 573 Helical; (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGAGGGCCGAGATGGTCACTA 0.637 NaN 0 0 0 0.001168 0 6 26 KIAA0754 643314 broad.mit.edu 37 1 39879406 39879406 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:39879406G>A uc009vvt.1 + 1 4231 c.3469G>A c.(3469-3471)GCC>ACC p.A1157T MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 1021 Ala-rich.|12. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGGAATCCGCCTCCGCAGC 0.682 NaN 0 0 0 0.001168 0 6 33 NT5C1A 84618 broad.mit.edu 37 1 40131848 40131848 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:40131848C>G uc001cdq.1 - 2 196 c.196G>C c.(196-198)GAG>CAG p.E66Q NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 66 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGCTGCTCCTCGTCCATGCGA 0.582 NaN 0 0 0 0.001855 0 13 60 KIAA0467 23334 broad.mit.edu 37 1 43896036 43896036 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43896036G>C uc001cjk.1 + 16 2221 c.1759G>C c.(1759-1761)GAG>CAG p.E587Q NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1486 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAGTTTTCAGAGGCTGAGCT 0.522 NaN 0 0 0 0.008361 0 27 59 KIAA0467 23334 broad.mit.edu 37 1 43896196 43896196 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43896196G>T uc001cjk.1 + 17 2275 c.1813G>T c.(1813-1815)GAG>TAG p.E605* NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1504 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTGGTCACTGAGAGTGACCC 0.562 NaN 1 0 4.22769e-11 0.00632 5.26178e-11 26 53 KIAA0467 23334 broad.mit.edu 37 1 43905590 43905590 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43905590G>C uc001cjk.1 + 36 4846 c.4384G>C c.(4384-4386)GAA>CAA p.E1462Q NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2361 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGATGTGTGGGAAAAGGGGAA 0.577 NaN 0 0 0 0.007291 0 27 45 KIAA0467 23334 broad.mit.edu 37 1 43908143 43908143 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:43908143G>C uc001cjk.1 + 43 5770 c.5308G>C c.(5308-5310)GAC>CAC p.D1770H NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2669 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGGGCTCCAGACCTGGGGGC 0.617 NaN 0 0 0 0.00333 0 24 55 HECTD3 79654 broad.mit.edu 37 1 45472910 45472910 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:45472910C>T uc009vxk.2 - 11 1635 c.1537G>A c.(1537-1539)GAA>AAA p.E513K HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.E123K|HECTD3_uc010olh.1_Missense_Mutation_p.E229K NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 513 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) AGGGGCTTTTCATATTTGTCA 0.413 NaN 0 0 0 0.00278 0 20 101 ZSWIM5 57643 broad.mit.edu 37 1 45671765 45671765 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:45671765G>T uc001cnd.2 - 1 486 c.258C>A c.(256-258)TTC>TTA p.F86L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 86 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GGATCCGCTCGAAGCGCTCCT 0.627 NaN 1 0 5.16669e-11 0.000978 6.42489e-11 10 24 CYP4A11 1579 broad.mit.edu 37 1 47399996 47399996 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:47399996C>T uc001cqp.3 - 8 991 c.940G>A c.(940-942)GAG>AAG p.E314K CYP4A11_uc001cqq.2_Missense_Mutation_p.E314K|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 314 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GTGTCCACCTCAGCACGGAGG 0.547 NaN 0 0 0 0.004656 0 16 24 CYP4A22 284541 broad.mit.edu 37 1 47610264 47610264 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:47610264G>A uc001cqv.1 + 8 991 c.940G>A c.(940-942)GAG>AAG p.E314K CYP4A22_uc009vyo.2_Missense_Mutation_p.E314K|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 314 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 CCTCCGTGCTGAGGTGGACAC 0.552 NaN 0 0 0 0.003954 0 14 129 NRD1 4898 broad.mit.edu 37 1 52283797 52283797 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:52283797G>C uc001ctc.3 - 12 1828 c.1506C>G c.(1504-1506)ATC>ATG p.I502M NRD1_uc009vzb.2_Missense_Mutation_p.I197M|NRD1_uc001ctd.3_Missense_Mutation_p.I434M|NRD1_uc001cte.2_Missense_Mutation_p.I370M|NRD1_uc001ctf.2_Missense_Mutation_p.I434M|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.I302M NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 433 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 GAATTTTTCTGATTGGAACAA 0.323 NaN 0 0 0 0.00308 0 6 31 USP24 23358 broad.mit.edu 37 1 55595217 55595217 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:55595217C>T uc001cyg.3 - 29 3088 c.3088G>A c.(3088-3090)GAT>AAT p.D1030N NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1190 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 ATGTCATCATCAGCTGTTGGC 0.398 NaN 0 0 0 0.004482 0 9 60 RAVER2 55225 broad.mit.edu 37 1 65243754 65243754 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:65243754C>T uc001dbs.1 + 3 843 c.765C>T c.(763-765)GTC>GTT p.V255V RAVER2_uc001dbt.1_Silent_p.V134V|RAVER2_uc010opb.1_Silent_p.V134V NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 255 RRM 3. cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 TTTCCAGTGTCCATAAACCTG 0.318 NaN 0 0 0 0.00333 0 22 49 MIER1 57708 broad.mit.edu 37 1 67436578 67436578 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:67436578G>A uc001dde.2 + 9 994 c.860G>A c.(859-861)AGA>AAA p.R287K MIER1_uc010opf.1_Missense_Mutation_p.R251K|MIER1_uc009way.2_Missense_Mutation_p.R251K|MIER1_uc001ddc.2_Missense_Mutation_p.R287K|MIER1_uc001ddh.2_Missense_Mutation_p.R171K|MIER1_uc001ddf.2_Missense_Mutation_p.R251K|MIER1_uc001ddg.2_Missense_Mutation_p.R207K|MIER1_uc010opg.1_Missense_Mutation_p.R251K|MIER1_uc001ddj.1_Missense_Mutation_p.R234K|MIER1_uc001ddi.2_Missense_Mutation_p.R234K NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 258 ELM2.|Interaction with HDAC1. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 GCATCTAGAAGAACAGGTGAT 0.358 NaN 0 0 0 0.003163 0 16 61 PIGK 10026 broad.mit.edu 37 1 77627290 77627290 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:77627290C>G uc001dhk.2 - 7 736 c.691G>C c.(691-693)GAT>CAT p.D231H PIGK_uc010orj.1_Missense_Mutation_p.D155H|PIGK_uc009wbx.2_Missense_Mutation_p.D137H|PIGK_uc001dhl.1_Missense_Mutation_p.D231H NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 231 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 GAGAGTGAATCTTCTCCCACT 0.368 NaN 0 0 0 0.00245 0 14 65 LPHN2 23266 broad.mit.edu 37 1 82409390 82409390 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:82409390G>A uc001dit.3 + 6 1316 c.1135G>A c.(1135-1137)GTG>ATG p.V379M LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.V379M|LPHN2_uc001div.2_Missense_Mutation_p.V379M|LPHN2_uc009wcd.2_Missense_Mutation_p.V379M NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 379 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCAACTTTACGTGTGGAACAA 0.408 NaN 0 0 0 0.00278 0 24 91 RBMXL1 494115 broad.mit.edu 37 1 89449287 89449287 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:89449287C>A uc009wcx.2 - 3 939 c.223G>T c.(223-225)GAT>TAT p.D75Y CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.D75Y NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 75 RRM. nucleotide binding|RNA binding 0 GCTTTTCCATCTAATGACTTT 0.478 NaN OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.48254e-18 0.00361 3.14135e-18 53 169 GBP3 2635 broad.mit.edu 37 1 89486323 89486323 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:89486323G>T uc001dmt.2 - 2 287 c.82C>A c.(82-84)CTG>ATG p.L28M GBP3_uc010oss.1_Translation_Start_Site|GBP3_uc001dmu.2_Translation_Start_Site|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 28 Helical; (Potential). integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) AGGATTTTCAGAGCTTCTGGA 0.517 NaN 1 0 6.05902e-23 0.003755 7.72123e-23 37 106 TGFBR3 7049 broad.mit.edu 37 1 92184913 92184913 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:92184913G>A uc001doh.2 - 10 1988 c.1522C>T c.(1522-1524)CGG>TGG p.R508W TGFBR3_uc009wde.2_Missense_Mutation_p.R285W|TGFBR3_uc010osy.1_Missense_Mutation_p.R466W|TGFBR3_uc001doi.2_Missense_Mutation_p.R507W|TGFBR3_uc001doj.2_Missense_Mutation_p.R507W NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 508 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CACCGGGGCCGAGTACCGCAG 0.547 NaN 0 0 0 0.002836 0 35 62 EVI5 7813 broad.mit.edu 37 1 93091443 93091443 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:93091443C>T uc001dox.2 - 13 1538 c.1528G>A c.(1528-1530)GAA>AAA p.E510K EVI5_uc010otf.1_Missense_Mutation_p.E521K|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 510 Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GCAATGAGTTCTTCCTGAAGC 0.338 NaN 0 0 0 0.001786 0 31 46 ARHGAP29 9411 broad.mit.edu 37 1 94655506 94655506 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:94655506G>A uc001dqj.3 - 13 1784 c.1415C>T c.(1414-1416)TCA>TTA p.S472L ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.S38L NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 472 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCTTCAGTTGAATTTGTGGC 0.368 NaN 0 0 0 0.000978 0 12 60 SLC30A7 148867 broad.mit.edu 37 1 101387384 101387384 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:101387384C>G uc001dtn.2 + 8 1016 c.829C>G c.(829-831)CTT>GTT p.L277V SLC30A7_uc001dto.2_Missense_Mutation_p.L277V NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 277 Helical; (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TATAGCCATTCTTATAGTTGT 0.303 NaN 0 0 0 0.001855 0 13 80 COL11A1 1301 broad.mit.edu 37 1 103478004 103478004 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:103478004C>T uc001dul.2 - 14 1912 c.1594G>A c.(1594-1596)GGC>AGC p.G532S COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G544S|COL11A1_uc001dun.2_Missense_Mutation_p.G493S|COL11A1_uc009weh.2_Missense_Mutation_p.G416S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 532 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCATTGGGCCAGGTGGGCCT 0.388 NaN 0 0 0 0.008291 0 9 24 EPS8L3 79574 broad.mit.edu 37 1 110301959 110301959 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:110301959C>T uc001dyr.1 - 5 451 c.306G>A c.(304-306)GCG>GCA p.A102A EPS8L3_uc001dys.1_Silent_p.A102A|EPS8L3_uc001dyq.1_Silent_p.A102A|EPS8L3_uc009wfm.1_Silent_p.A68A|EPS8L3_uc009wfn.1_Silent_p.A68A|EPS8L3_uc009wfo.1_Silent_p.A49A NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 102 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) ATGTGTTGAGCGCCACATTCA 0.607 NaN 0 0 0 0.00361 0 68 144 CHIA 27159 broad.mit.edu 37 1 111854934 111854934 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:111854934G>A uc001eas.2 + 4 281 c.178G>A c.(178-180)GGG>AGG p.G60R CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 60 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CGCCTTTGCTGGGAGGCAGAA 0.522 NaN 0 0 0 0.00245 0 14 119 DDX20 11218 broad.mit.edu 37 1 112309338 112309338 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:112309338G>C uc001ebs.2 + 11 2649 c.2292G>C c.(2290-2292)CTG>CTC p.L764L DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 764 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATACGTCTGAGTTTTTCTG 0.453 NaN 0 0 0 0.001984 0 5 55 ST7L 54879 broad.mit.edu 37 1 113159453 113159453 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:113159453C>T uc001ecd.2 - 2 575 c.270G>A c.(268-270)TTG>TTA p.L90L ST7L_uc001ecc.2_5'UTR|ST7L_uc010owg.1_Silent_p.L90L|ST7L_uc010owh.1_Silent_p.L90L|ST7L_uc001ece.2_Silent_p.L90L|ST7L_uc001ecf.2_Silent_p.L73L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Silent_p.L25L|ST7L_uc001ech.2_Silent_p.L73L|ST7L_uc001eci.2_Silent_p.L90L|ST7L_uc009wgi.1_Intron|ST7L_uc010owj.1_Silent_p.L73L|CAPZA1_uc001ecj.1_5'Flank NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7-like isoform 1 90 Helical; (Potential). negative regulation of cell growth integral to membrane binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCCTGATATCAATGAAGAGG 0.264 NaN 0 0 0 0.000978 0 10 105 AMPD1 270 broad.mit.edu 37 1 115236063 115236063 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:115236063C>A uc001efe.1 - 2 112 c.28G>T c.(28-30)GAG>TAG p.E10* AMPD1_uc001eff.1_Intron NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 10 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCACGTTTCTCTTCAGCTGTA 0.323 NaN 1 0 1.64293e-13 0.00333 2.05545e-13 22 75 ATP1A1 476 broad.mit.edu 37 1 116935566 116935566 + Missense_Mutation SNP G G A rs148719009 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:116935566G>A uc001ege.2 + 11 1762 c.1423G>A c.(1423-1425)GCC>ACC p.A475T ATP1A1_uc010owv.1_Missense_Mutation_p.A444T|ATP1A1_uc010oww.1_Missense_Mutation_p.A475T|ATP1A1_uc010owx.1_Missense_Mutation_p.A444T|C1orf203_uc009whb.2_RNA NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 475 Cytoplasmic (Potential). A -> T (in Ref. 12; CAA27390). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AGAAAGATACGCCAAAATCGT 0.537 NaN 0 0 0 0.003163 0 14 109 NOTCH2 4853 broad.mit.edu 37 1 120461054 120461054 + Silent SNP C C T rs149442704 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:120461054C>T uc001eik.2 - 32 6160 c.5904G>A c.(5902-5904)GCG>GCA p.A1968A NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1968 Cytoplasmic (Potential).|ANK 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATTCACATCCGCTTGGCAGT 0.527 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.001368 0 11 104 NBPF10 100132406 broad.mit.edu 37 1 145293519 145293519 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145293519C>G uc001end.3 + 1 149 c.114C>G c.(112-114)CTC>CTG p.L38L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L38L|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Silent_p.L38L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 38 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCAGAAACCTCAAAGAGAAAT 0.473 NaN 0 0 0 0.00361 0 49 568 TXNIP 10628 broad.mit.edu 37 1 145440314 145440314 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145440314G>T uc001enn.3 + 5 961 c.620G>T c.(619-621)CGA>CTA p.R207L NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R152L NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 207 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACATGTTCCCGAATTGTGGTC 0.453 NaN 1 0 1.43246e-33 0.007835 1.83193e-33 40 84 ANKRD34A 284615 broad.mit.edu 37 1 145473774 145473774 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:145473774C>T uc001enq.1 + 4 1739 c.446C>T c.(445-447)TCG>TTG p.S149L NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 149 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACCGATACCTCGCCCTCAGGC 0.652 NaN 0 0 0 0.008291 0 11 47 BCL9 607 broad.mit.edu 37 1 147096327 147096327 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:147096327G>A uc001epq.2 + 10 4588 c.3848G>A c.(3847-3849)AGA>AAA p.R1283K BCL9_uc010ozr.1_Missense_Mutation_p.R1197K NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1283 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CAAGCCCCCAGAATGGGACTA 0.587 NaN T IGH@|IGL@ B-ALL 0 0 0 0.004482 0 9 44 HIST2H2BE 8349 broad.mit.edu 37 1 149858021 149858021 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:149858021G>A uc001etc.2 - 1 212 c.170C>T c.(169-171)TCC>TTC p.S57F HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 57 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATGGCCTTGGACGAGATGCC 0.587 NaN 0 0 0 0.00361 0 82 172 ANXA9 8416 broad.mit.edu 37 1 150960575 150960575 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:150960575C>T uc001ewa.2 + 11 1176 c.706C>T c.(706-708)CAG>TAG p.Q236* NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 236 Annexin 3. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTGTTTGATCAGTACCAGCG 0.557 NaN 0 0 0 0.00333 0 20 48 ZNF687 57592 broad.mit.edu 37 1 151261860 151261860 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151261860C>T uc001exq.2 + 5 2576 c.2478C>T c.(2476-2478)ATC>ATT p.I826I ZNF687_uc009wmo.2_Silent_p.I826I|ZNF687_uc009wmp.2_Silent_p.I826I NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCAGGCTGATCTACAAGTGCG 0.622 NaN 0 0 0 0.002852 0 41 94 ZNF687 57592 broad.mit.edu 37 1 151262612 151262612 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262612C>A uc001exq.2 + 7 3077 c.2979C>A c.(2977-2979)TTC>TTA p.F993L ZNF687_uc009wmo.2_Missense_Mutation_p.F993L|ZNF687_uc009wmp.2_Missense_Mutation_p.F993L NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 993 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGAAAAAGTTCCCCTGTCGCC 0.612 NaN 1 0 5.8336e-16 0.003271 7.33658e-16 14 95 ZNF687 57592 broad.mit.edu 37 1 151262619 151262619 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262619C>A uc001exq.2 + 7 3084 c.2986C>A c.(2986-2988)CGC>AGC p.R996S ZNF687_uc009wmo.2_Missense_Mutation_p.R996S|ZNF687_uc009wmp.2_Missense_Mutation_p.R996S NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 996 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTTCCCCTGTCGCCTGTGTGA 0.592 NaN 1 0 1.90571e-15 0.004289 2.39461e-15 13 94 ZNF687 57592 broad.mit.edu 37 1 151262635 151262635 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262635C>T uc001exq.2 + 7 3100 c.3002C>T c.(3001-3003)TCC>TTC p.S1001F ZNF687_uc009wmo.2_Missense_Mutation_p.S1001F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1001F NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1001 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGTGAGCGCTCCTTCTGCTCC 0.597 NaN 0 0 0 0.003271 0 13 95 ZNF687 57592 broad.mit.edu 37 1 151262637 151262637 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151262637T>C uc001exq.2 + 7 3102 c.3004T>C c.(3004-3006)TTC>CTC p.F1002L ZNF687_uc009wmo.2_Missense_Mutation_p.F1002L|ZNF687_uc009wmp.2_Missense_Mutation_p.F1002L NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1002 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGAGCGCTCCTTCTGCTCCGC 0.592 NaN 0 0 0 0.003755 0 13 96 ZNF687 57592 broad.mit.edu 37 1 151263516 151263516 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:151263516C>G uc001exq.2 + 9 3643 c.3545C>G c.(3544-3546)TCA>TGA p.S1182* ZNF687_uc009wmo.2_Nonsense_Mutation_p.S1182*|ZNF687_uc009wmp.2_3'UTR NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCCCCTCCATCAAGGTCTGAC 0.617 NaN 0 0 0 0.003954 0 24 59 TCHHL1 126637 broad.mit.edu 37 1 152058710 152058710 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:152058710C>T uc001ezo.1 - 3 1513 c.1448G>A c.(1447-1449)AGC>AAC p.S483N NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 483 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGCGTTTTTGCTGTTCACAAA 0.483 NaN 0 0 0 0.00361 0 98 225 LCE2B 26239 broad.mit.edu 37 1 152659594 152659594 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:152659594G>C uc001fai.2 + 2 329 c.275G>C c.(274-276)TGT>TCT p.C92S NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 92 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGACTGCTGTGAGAGTGAA 0.632 NaN 0 0 0 0.003271 0 35 108 ADAR 103 broad.mit.edu 37 1 154574803 154574803 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:154574803C>G uc001ffh.2 - 2 515 c.315G>C c.(313-315)CAG>CAC p.Q105H ADAR_uc001ffj.2_Missense_Mutation_p.Q105H|ADAR_uc001ffi.2_Missense_Mutation_p.Q105H|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 105 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GGAACCCTCTCTGGAGCCCCT 0.557 NaN 0 0 0 0.002836 0 34 61 RAG1AP1 55974 broad.mit.edu 37 1 155109406 155109406 + Silent SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155109406T>C uc001fhj.3 + 3 361 c.261T>C c.(259-261)TAT>TAC p.Y87Y RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Intron|RAG1AP1_uc001fhl.3_Silent_p.Y87Y NM_018845 NP_061333 Q9BRV3 SWET1_HUMAN recombination activating gene 1 activating 87 Helical; Name=3; (Potential).|MtN3/slv 1. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTTGGCATATCTGCATTACT 0.562 NaN 0 0 0 0.000602 0 5 78 ASH1L 55870 broad.mit.edu 37 1 155313492 155313492 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155313492C>T uc009wqq.2 - 23 8518 c.8038G>A c.(8038-8040)GAT>AAT p.D2680N RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2675N NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2680 BAH. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGGTGGCCATCAGGGGTGCGC 0.438 NaN 0 0 0 0.001984 0 7 64 GON4L 54856 broad.mit.edu 37 1 155796774 155796774 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:155796774G>A uc001flz.2 - 3 648 c.551C>T c.(550-552)TCA>TTA p.S184L GON4L_uc001fly.1_Missense_Mutation_p.S184L|GON4L_uc009wrh.1_Missense_Mutation_p.S184L|GON4L_uc001fma.1_Missense_Mutation_p.S184L|GON4L_uc001fmc.2_Missense_Mutation_p.S184L|GON4L_uc001fmd.3_Missense_Mutation_p.S184L|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.S12L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 184 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTGGCTGCCTGATGGCAGGGA 0.473 NaN 0 0 0 0.001855 0 13 72 SEMA4A 64218 broad.mit.edu 37 1 156126258 156126258 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156126258G>C uc001fnl.2 + 3 297 c.193G>C c.(193-195)GAC>CAC p.D65H SEMA4A_uc009wrq.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.D65H NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 65 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCAGGATTTTGACACTCTGCT 0.542 NaN 0 0 0 0.008361 0 28 60 BCAN 63827 broad.mit.edu 37 1 156617443 156617443 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156617443G>C uc001fpp.2 + 4 946 c.610G>C c.(610-612)GAT>CAT p.D204H BCAN_uc001fpo.2_Missense_Mutation_p.D204H NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 204 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGAGCAATGTGATGCTGGCTG 0.647 NaN 0 0 0 0.007413 0 17 122 ARHGEF11 9826 broad.mit.edu 37 1 156912573 156912573 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:156912573C>G uc001fqo.2 - 32 4156 c.3116_splice c.e32-1 p.D1039_splice ARHGEF11_uc010phu.1_Splice_Site_p.D455_splice|ARHGEF11_uc001fqn.2_Splice_Site_p.D1079_splice NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCCGTTTATCTGTGTGAGGA 0.542 NaN 0 0 0 0.006999 0 38 54 FCRL5 83416 broad.mit.edu 37 1 157514314 157514314 + Silent SNP C C T rs112294248 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:157514314C>T uc001fqu.2 - 5 740 c.582G>A c.(580-582)CTG>CTA p.L194L FCRL5_uc009wsm.2_Silent_p.L194L|FCRL5_uc010phv.1_Silent_p.L194L|FCRL5_uc010phw.1_Silent_p.L109L|FCRL5_uc001fqv.1_Silent_p.L194L|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 194 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGCTGGCTCTCAGCACTGGAC 0.557 NaN 0 0 0 0.00623 0 35 71 OR10J3 441911 broad.mit.edu 37 1 159284102 159284102 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:159284102G>A uc010piu.1 - 1 348 c.348C>T c.(346-348)CTC>CTT p.L116L NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) CCATGACTGTGAGCAGGAAGC 0.507 NaN 0 0 0 0.004007 0 15 79 ATP1A4 480 broad.mit.edu 37 1 160136489 160136489 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:160136489G>T uc001fve.3 + 8 1698 c.1219G>T c.(1219-1221)GAG>TAG p.E407* ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 407 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GACCGTGTATGAGGCCGACAC 0.552 NaN 1 0 1.76689e-08 0.006214 2.15438e-08 10 71 PVRL4 81607 broad.mit.edu 37 1 161046192 161046192 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:161046192G>C uc001fxo.2 - 4 1103 c.804C>G c.(802-804)CTC>CTG p.L268L PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.L2L NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 268 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TCAGGCACTTGAGCATAGCTC 0.562 NaN 0 0 0 0.004482 0 9 49 UHMK1 127933 broad.mit.edu 37 1 162468057 162468057 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:162468057C>T uc001gcc.1 + 1 403 c.267C>T c.(265-267)ATC>ATT p.I89I UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.I89I NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 89 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) ACAGAAACATCGGTAATTGCC 0.607 NaN 0 0 0 0.001168 0 4 22 FAM78B 149297 broad.mit.edu 37 1 166039523 166039523 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:166039523C>T uc001gdr.2 - 3 1331 c.741G>A c.(739-741)TGG>TGA p.W247* FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 247 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GCTTGGGCCTCCACATGAGGA 0.592 NaN 0 0 0 0.00333 0 24 106 TADA1 117143 broad.mit.edu 37 1 166845422 166845422 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:166845422C>A uc001gdw.2 - 1 233 c.49G>T c.(49-51)GAG>TAG p.E17* TADA1_uc009wve.2_Nonsense_Mutation_p.E17* NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 17 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 CCCAGGGCCTCGCTTAAGTTC 0.667 NaN 1 0 2.74318e-10 0.006214 3.39654e-10 9 47 ADCY10 55811 broad.mit.edu 37 1 167871010 167871010 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:167871010C>T uc001ger.2 - 5 624 c.326G>A c.(325-327)CGA>CAA p.R109Q ADCY10_uc009wvk.2_Missense_Mutation_p.R17Q|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.R108Q|ADCY10_uc009wvm.2_Intron NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 109 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CAGCTGCTTTCGCTCCACCCT 0.493 NaN 0 0 0 0.004656 0 26 140 GPR161 23432 broad.mit.edu 37 1 168054780 168054780 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:168054780C>T uc001gfc.2 - 8 1893 c.1579G>A c.(1579-1581)GAG>AAG p.E527K GPR161_uc001gfb.2_Missense_Mutation_p.E395K|GPR161_uc010pll.1_Missense_Mutation_p.E437K|GPR161_uc010plm.1_Missense_Mutation_p.E413K|GPR161_uc009wvo.2_Missense_Mutation_p.E544K|GPR161_uc001gfd.2_Missense_Mutation_p.E527K|GPR161_uc010pln.1_Missense_Mutation_p.E547K NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 527 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CATCTCTGCTCGGCAGCTAAA 0.667 NaN 0 0 0 0.004007 0 17 81 FMO1 2326 broad.mit.edu 37 1 171251468 171251468 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:171251468G>C uc009wvz.2 + 7 1315 c.1179G>C c.(1177-1179)CTG>CTC p.L393L FMO1_uc010pme.1_Silent_p.L330L|FMO1_uc001ghl.2_Silent_p.L393L|FMO1_uc001ghm.2_Silent_p.L393L|FMO1_uc001ghn.2_Silent_p.L393L NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 393 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCGAGTCCTGAAAGGTAAGT 0.448 NaN 0 0 0 0.001984 0 7 51 ACBD6 84320 broad.mit.edu 37 1 180283851 180283851 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:180283851C>G uc001gog.2 - 7 1291 c.670G>C c.(670-672)GAA>CAA p.E224Q NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 224 ANK 2. cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 GTTTGGCCTTCATTGTCCTAT 0.239 NaN 0 0 0 0.000978 0 11 77 C1orf14 81626 broad.mit.edu 37 1 182921966 182921966 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:182921966C>G uc001gpu.2 - 1 588 c.303G>C c.(301-303)GAG>GAC p.E101D C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 173 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) GCTGCGCCTCCTCTTCATCCT 0.602 NaN 0 0 0 0.000978 0 9 22 TPR 7175 broad.mit.edu 37 1 186322927 186322927 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:186322927G>A uc001grv.2 - 18 2524 c.2227C>T c.(2227-2229)CAT>TAT p.H743Y NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 743 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTCTCTCATGAAGTGATGTT 0.353 NaN T NTRK1 papillary thyroid 0 0 0 0.001368 0 13 98 KCNT2 343450 broad.mit.edu 37 1 196251455 196251455 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:196251455G>C uc001gtd.1 - 24 2789 c.2729C>G c.(2728-2730)ACG>AGG p.T910R KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T836R|KCNT2_uc001gtf.1_Missense_Mutation_p.T886R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T886R|KCNT2_uc001gth.1_Missense_Mutation_p.T407R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 910 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CAGAAGTCTCGTGATAGAAAT 0.303 NaN 0 0 0 0.00308 0 6 52 CFHR1 3078 broad.mit.edu 37 1 196797272 196797272 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:196797272C>T uc001gtn.2 + 4 617 c.503C>T c.(502-504)TCT>TTT p.S168F CFHR1_uc001gtm.2_Missense_Mutation_p.S72F NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 168 Sushi 3. complement activation extracellular space 0 AAATATCCATCTGGTGAGAGA 0.413 NaN 0 0 0 0.006122 0 17 26 DDX59 83479 broad.mit.edu 37 1 200617569 200617569 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:200617569G>C uc009wzk.2 - 7 1837 c.1594C>G c.(1594-1596)CAG>GAG p.Q532E DDX59_uc010ppl.1_Missense_Mutation_p.Q532E NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 532 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 CTCCTTACCTGATGGACATAC 0.398 NaN 0 0 0 0.00632 0 26 54 KIF21B 23046 broad.mit.edu 37 1 200967564 200967564 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:200967564C>G uc001gvs.1 - 14 2342 c.2025G>C c.(2023-2025)CAG>CAC p.Q675H KIF21B_uc001gvr.1_Missense_Mutation_p.Q675H|KIF21B_uc009wzl.1_Missense_Mutation_p.Q675H|KIF21B_uc010ppn.1_Missense_Mutation_p.Q675H NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 675 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GGATCTTGTTCTGCAGCAGAA 0.582 NaN 0 0 0 0.001786 0 28 130 ELF3 1999 broad.mit.edu 37 1 201981484 201981484 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:201981484C>T uc001gxg.3 + 3 3590 c.398C>T c.(397-399)TCT>TTT p.S133F ELF3_uc001gxi.3_Missense_Mutation_p.S133F|ELF3_uc001gxh.3_Missense_Mutation_p.S133F NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 133 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 TCCAGCTCTTCTGATGAGCTC 0.582 NaN 0 0 0 0.004656 0 24 132 ELF3 1999 broad.mit.edu 37 1 201981809 201981809 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:201981809C>T uc001gxg.3 + 4 3712 c.520C>T c.(520-522)CAG>TAG p.Q174* ELF3_uc001gxi.3_Nonsense_Mutation_p.Q174*|ELF3_uc001gxh.3_Nonsense_Mutation_p.Q174* NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 174 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 GGACGACGGTCAGCAAGCCAG 0.667 NaN 0 0 0 0.004007 0 16 77 LAX1 54900 broad.mit.edu 37 1 203734754 203734754 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:203734754C>G uc001haa.2 + 1 471 c.61C>G c.(61-63)CTG>GTG p.L21V LAX1_uc010pql.1_Intron NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 21 Extracellular (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GTCCAGCACTCTGCATGTGAC 0.557 NaN 0 0 0 0.001984 0 6 36 PIK3C2B 5287 broad.mit.edu 37 1 204438482 204438482 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:204438482G>C uc001haw.2 - 3 928 c.449C>G c.(448-450)TCT>TGT p.S150C PIK3C2B_uc010pqv.1_Missense_Mutation_p.S150C|PIK3C2B_uc001hax.1_Missense_Mutation_p.S150C|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 150 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTTCTTGCAAGAGCCCTCTAT 0.577 NaN 0 0 0 0.001168 0 6 68 NFASC 23114 broad.mit.edu 37 1 204942505 204942505 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:204942505G>A uc001hbj.2 + 12 1565 c.1237G>A c.(1237-1239)GAG>AAG p.E413K NFASC_uc001hbh.2_Missense_Mutation_p.E413K|NFASC_uc010pqz.1_Missense_Mutation_p.E407K|NFASC_uc010pra.1_Missense_Mutation_p.E424K|NFASC_uc001hbi.2_Missense_Mutation_p.E424K|NFASC_uc009xbg.1_Missense_Mutation_p.E497K|NFASC_uc010prb.1_Missense_Mutation_p.E424K|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.E234K NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 413 Extracellular (Potential).|Ig-like C2-type 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACCTCCAACGAGCATGGCTA 0.607 NaN 0 0 0 0.004007 0 16 37 ELK4 2005 broad.mit.edu 37 1 205589767 205589767 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205589767G>T uc001hcy.1 - 3 1657 c.407C>A c.(406-408)TCT>TAT p.S136Y ELK4_uc001hcz.2_Missense_Mutation_p.S136Y NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 136 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ATTGCGGCTAGAGGTCTTGGC 0.418 NaN T SLC45A3 prostate 1 0 2.74318e-10 0.006214 3.39654e-10 10 107 SLC45A3 85414 broad.mit.edu 37 1 205628644 205628644 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205628644G>C uc001hda.1 - 5 1719 c.1380C>G c.(1378-1380)CTC>CTG p.L460L SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 460 transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGGCCCCGCAGAGCGCGGGTG 0.677 NaN T ETV1|ETV5|ELK4|ERG prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 24 SLC26A9 115019 broad.mit.edu 37 1 205892252 205892252 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:205892252C>T uc001hdq.2 - 16 1845 c.1731G>A c.(1729-1731)ATG>ATA p.M577I SLC26A9_uc001hdo.2_Missense_Mutation_p.M245I|SLC26A9_uc001hdp.2_Missense_Mutation_p.M577I NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 577 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GTGTGGGCCTCATTCTCCGCT 0.522 NaN 0 0 0 0.003954 0 23 101 IKBKE 9641 broad.mit.edu 37 1 206652436 206652436 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:206652436C>G uc001hdz.1 + 10 1511 c.1143C>G c.(1141-1143)CTC>CTG p.L381L IKBKE_uc009xbv.1_Silent_p.L381L|IKBKE_uc001hea.1_Silent_p.L296L NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 381 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CCCTGACCCTCTTCAGCACAG 0.607 NaN 0 0 0 0.004007 0 17 43 LGTN 1939 broad.mit.edu 37 1 206772966 206772966 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:206772966C>T uc001heh.2 - 10 1262 c.1053G>A c.(1051-1053)AGG>AGA p.R351R LGTN_uc009xbw.2_Silent_p.R227R NM_006893 NP_008824 P41214 EIF2D_HUMAN ligatin 351 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) AAGATGTAATCCTAAAACCCA 0.532 NaN 0 0 0 0.00245 0 13 76 IRF6 3664 broad.mit.edu 37 1 209974644 209974644 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:209974644G>C uc001hhq.1 - 3 378 c.115C>G c.(115-117)CCC>GCC p.P39A IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.P39A NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 39 IRF tryptophan pentad repeat. P -> A (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGTTTCCAGGGAATCTGGAAG 0.512 NaN HNSCC(57;0.16) 0 0 0 0.004007 0 15 120 IRF6 3664 broad.mit.edu 37 1 209974759 209974759 + Translation_Start_Site SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:209974759G>C uc001hhq.1 - 3 263 c.0C>G c.(-2-2)ATCAT>ATGAT IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Translation_Start_Site NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGAGGGCCATGATCTGGGGGG 0.592 NaN HNSCC(57;0.16) 0 0 0 0.008291 0 9 98 SMYD2 56950 broad.mit.edu 37 1 214505378 214505378 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:214505378G>A uc010ptx.1 + 10 988 c.955G>A c.(955-957)GAG>AAG p.E319K SMYD2_uc009xdj.2_3'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_Intron NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 319 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TGAGCTGCTGGAGATCTGCGA 0.562 NaN OREG0012979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 38 DUSP10 11221 broad.mit.edu 37 1 221876002 221876002 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:221876002C>G uc001hmy.1 - 4 1383 c.1201G>C c.(1201-1203)GGG>CGG p.G401R DUSP10_uc001hmx.1_Missense_Mutation_p.G59R|DUSP10_uc001hmz.1_Missense_Mutation_p.G59R NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 401 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) AGCCCCTTCCCACACTGGTGA 0.522 NaN 0 0 0 0.003163 0 14 42 MIA3 375056 broad.mit.edu 37 1 222826446 222826446 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:222826446C>T uc001hnl.2 + 14 4192 c.4183C>T c.(4183-4185)CTT>TTT p.L1395F MIA3_uc009xea.1_Missense_Mutation_p.L1172F|MIA3_uc001hnm.2_Missense_Mutation_p.L273F NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1395 Potential.|Cytoplasmic (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) GGAAGTAGCTCTTACTCACAA 0.348 NaN 0 0 0 0.000248 0 4 48 CABC1 56997 broad.mit.edu 37 1 227149128 227149128 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:227149128C>T uc001hqm.1 + 7 3461 c.42C>T c.(40-42)GGC>GGT p.G14G CABC1_uc010pvp.1_5'UTR|CABC1_uc001hqn.1_Silent_p.G14G|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 14 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) TGGCTAAAGGCCTTGTCAAGC 0.642 NaN 0 0 0 0.001168 0 6 92 SNAP47 116841 broad.mit.edu 37 1 227923158 227923158 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:227923158G>A uc001hrf.2 + 1 462 c.48G>A c.(46-48)CCG>CCA p.P16P SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P16P|SNAP47_uc001hre.2_5'UTR|JMJD4_uc001hrc.2_5'Flank|JMJD4_uc001hrb.2_5'Flank NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 16 endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 CCGAGCGGCCGAGGCGCCGCG 0.761 NaN 0 0 0 0.004672 0 3 5 C1orf35 79169 broad.mit.edu 37 1 228290054 228290054 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:228290054C>G uc001hrx.2 - 5 498 c.404G>C c.(403-405)CGA>CCA p.R135P C1orf35_uc009xew.2_RNA NM_024319 NP_077295 Q9BU76 MMTA2_HUMAN hypothetical protein LOC79169 135 0 Prostate(94;0.0488) CTTGTCCTCTCGGGACATCGC 0.692 NaN 0 0 0 0.000602 0 4 18 PCNXL2 80003 broad.mit.edu 37 1 233314877 233314877 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:233314877G>A uc001hvl.2 - 16 3346 c.3111C>T c.(3109-3111)TTC>TTT p.F1037F PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1037 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AGAGGCCACAGAAGGCCGAAA 0.512 NaN 0 0 0 0.001368 0 10 57 IRF2BP2 359948 broad.mit.edu 37 1 234744657 234744657 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:234744657G>A uc001hwg.2 - 1 615 c.584C>T c.(583-585)TCG>TTG p.S195L IRF2BP2_uc009xfw.2_5'Flank|IRF2BP2_uc001hwf.2_Missense_Mutation_p.S195L NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 195 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CGGCGTGGCCGAGCCGTTCAT 0.766 NaN 0 0 0 0.001984 0 7 15 RYR2 6262 broad.mit.edu 37 1 237819236 237819236 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:237819236C>T uc001hyl.1 + 53 8201 c.8081C>T c.(8080-8082)TCA>TTA p.S2694L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2694 Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAACAGTCATCAATGGATTCT 0.413 NaN 0 0 0 0.008291 0 10 23 CNST 163882 broad.mit.edu 37 1 246811273 246811273 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:246811273G>A uc001ibp.2 + 9 2148 c.1770G>A c.(1768-1770)GAG>GAA p.E590E CNST_uc001ibo.3_Silent_p.E590E NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 590 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GTCTCCAGGAGAATCTGCCTT 0.403 NaN 0 0 0 0.001786 0 31 85 SCCPDH 51097 broad.mit.edu 37 1 246923504 246923504 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:246923504C>G uc001ibr.2 + 9 1312 c.965C>G c.(964-966)TCA>TGA p.S322* NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 322 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) GGCTATTTTTCAAAACAAGGC 0.299 NaN 0 0 0 0.005443 0 23 38 OR6F1 343169 broad.mit.edu 37 1 247875277 247875277 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:247875277G>A uc001idj.1 - 1 781 c.781C>T c.(781-783)CGC>TGC p.R261C NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ATAGAGGTGCGGACGTGAAGG 0.522 NaN 0 0 0 0.00245 0 15 71 OR2T12 127064 broad.mit.edu 37 1 248458107 248458107 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr1:248458107C>T uc010pzj.1 - 1 774 c.774G>A c.(772-774)ATG>ATA p.M258I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTGGGTCTCATATAGGTAA 0.483 NaN 0 0 0 0.003954 0 27 126 OPTN 10133 broad.mit.edu 37 10 13154581 13154581 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:13154581C>G uc001ilu.1 + 6 936 c.498C>G c.(496-498)CTC>CTG p.L166L OPTN_uc001ilv.1_Silent_p.L166L|OPTN_uc001ilw.1_Silent_p.L166L|OPTN_uc001ilx.1_Silent_p.L166L|OPTN_uc001ily.1_Silent_p.L166L|OPTN_uc010qbr.1_Silent_p.L109L|OPTN_uc001ilz.1_Silent_p.L166L NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 166 Interaction with Rab8.|Potential. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 AACTGCAGCTCAAGCTGAACT 0.498 NaN 0 0 0 0.002096 0 28 88 ACBD7 414149 broad.mit.edu 37 10 15121001 15121001 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:15121001C>T uc001inv.2 - 2 99 c.51G>A c.(49-51)CTG>CTA p.L17L ACBD7_uc010qby.1_5'UTR NM_001039844 NP_001034933 Q8N6N7 ACBD7_HUMAN acyl-Coenzyme A binding domain containing 7 17 ACB. fatty-acyl-CoA binding 0 GTCTTGCTTTCAGCTTCCTCA 0.358 NaN 0 0 0 0.007835 0 33 93 MLLT10 8028 broad.mit.edu 37 10 22002839 22002839 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:22002839C>T uc001iqs.2 + 15 2234 c.1886C>T c.(1885-1887)TCA>TTA p.S629L MLLT10_uc001iqt.2_Missense_Mutation_p.S613L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S613L|MLLT10_uc001ira.2_Missense_Mutation_p.S70L|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 629 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 CTCTCTCCCTCAGCTGTGTCA 0.473 NaN T MLL|PICALM|CDK6 AL 0 0 0 0.001523 0 20 78 C10orf67 256815 broad.mit.edu 37 10 23611391 23611391 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:23611391C>G uc010qcx.1 - 3 472 c.406G>C c.(406-408)GAG>CAG p.E136Q NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN hypothetical protein LOC256815 136 0 AAAGATTCCTCTTTCAGTCGG 0.328 NaN 0 0 0 0.006122 0 16 103 SVIL 6840 broad.mit.edu 37 10 29820964 29820964 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:29820964G>T uc001iut.1 - 9 2729 c.1976C>A c.(1975-1977)CCT>CAT p.P659H SVIL_uc001iuu.1_Intron NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 659 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGAAGTTATAGGTTGGGTTCT 0.488 NaN 1 0 1.15919e-05 0.008871 1.39568e-05 18 139 ZNF33A 7581 broad.mit.edu 37 10 38306269 38306269 + Missense_Mutation SNP G G A rs582502 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:38306269G>A uc001izh.2 + 4 383 c.205G>A c.(205-207)GAG>AAG p.E69K ZNF33A_uc001izg.2_Missense_Mutation_p.E69K|ZNF33A_uc010qev.1_Missense_Mutation_p.E76K|ZNF33A_uc001izi.1_Missense_Mutation_p.E69K|ZNF33A_uc001izj.2_RNA NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 69 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ACAAGGAGAAGAGCCATGGAA 0.433 NaN 0 0 0 0.00361 0 54 143 ZNF33B 7582 broad.mit.edu 37 10 43089326 43089326 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:43089326G>A uc001jaf.1 - 5 1187 c.1072C>T c.(1072-1074)CAA>TAA p.Q358* ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q246*|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 358 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGATTACATTGAAAGTGTTTC 0.418 NaN 0 0 0 0.007835 0 42 104 RET 5979 broad.mit.edu 37 10 43601965 43601965 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:43601965G>A uc001jal.2 + 5 1199 c.1009G>A c.(1009-1011)GAG>AAG p.E337K RET_uc001jak.1_Missense_Mutation_p.E337K|RET_uc010qez.1_Missense_Mutation_p.E83K NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 337 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CTGGCCCAACGAGACCTCGGT 0.652 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 0 0 0 0.008291 0 11 20 ALOX5 240 broad.mit.edu 37 10 45877975 45877975 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:45877975C>T uc001jce.2 + 2 294 c.195C>T c.(193-195)ATC>ATT p.I65I ALOX5_uc009xmt.2_Silent_p.I65I|ALOX5_uc010qfg.1_Silent_p.I65I NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 65 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGGGCGAGATCCAGCTGGTCA 0.547 NaN 0 0 0 0.007413 0 17 53 ERCC6 2074 broad.mit.edu 37 10 50690842 50690842 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:50690842G>C uc001jhs.3 - 10 2214 c.2060C>G c.(2059-2061)TCG>TGG p.S687W ERCC6_uc010qgr.1_Missense_Mutation_p.S57W|ERCC6_uc001jhr.3_Missense_Mutation_p.S87W NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 687 Helicase ATP-binding. S -> L (in CSB). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GTCAAAGAGCGACCACAGCTC 0.483 NaN Direct_reversal_of_damage|NER 0 0 0 0.004878 0 35 64 TFAM 7019 broad.mit.edu 37 10 60145995 60145995 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:60145995G>A uc001jkf.2 + 2 249 c.117G>A c.(115-117)CCG>CCA p.P39P TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.P39P NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 39 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TGTATTTACCGAGGTGGTTTT 0.338 NaN 0 0 0 0.007291 0 27 70 MYPN 84665 broad.mit.edu 37 10 69926110 69926110 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:69926110G>A uc001jnm.3 + 11 1845 c.1660G>A c.(1660-1662)GCA>ACA p.A554T MYPN_uc001jnl.1_Missense_Mutation_p.A554T|MYPN_uc001jnn.3_Missense_Mutation_p.A279T|MYPN_uc001jno.3_Missense_Mutation_p.A554T|MYPN_uc009xps.2_Missense_Mutation_p.A554T|MYPN_uc009xpt.2_Missense_Mutation_p.A554T|MYPN_uc010qit.1_Missense_Mutation_p.A260T|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 554 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CACCAACCTGGCAGCTATTGA 0.552 NaN 0 0 0 0.001855 0 11 56 TET1 80312 broad.mit.edu 37 10 70412289 70412289 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70412289G>A uc001jok.3 + 6 4904 c.4399G>A c.(4399-4401)GAA>AAA p.E1467K NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1467 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AATAAGGATAGAAATAGTAGT 0.363 NaN 0 0 0 0.00278 0 19 46 TET1 80312 broad.mit.edu 37 10 70412337 70412337 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70412337C>G uc001jok.3 + 6 4952 c.4447C>G c.(4447-4449)CCA>GCA p.P1483A NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1483 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCATGGGTGTCCAATTGCTAA 0.348 NaN 0 0 0 0.001855 0 12 46 DDX21 9188 broad.mit.edu 37 10 70719870 70719870 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:70719870G>A uc001jov.1 + 2 486 c.396G>A c.(394-396)AAG>AAA p.K132K DDX21_uc001jow.1_Silent_p.K64K NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 132 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 AGCCCAAGAAGATGAAGAAAG 0.408 NaN 0 0 0 0.008291 0 11 42 FUT11 170384 broad.mit.edu 37 10 75532615 75532615 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:75532615C>G uc001jva.2 + 1 567 c.524C>G c.(523-525)TCG>TGG p.S175W FUT11_uc001juy.1_Missense_Mutation_p.S175W|FUT11_uc001juz.1_Missense_Mutation_p.S175W NM_173540 NP_775811 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) 175 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 Prostate(51;0.0112) AGTCGCCACTCGGATTACCCG 0.687 NaN 0 0 0 0.006122 0 16 36 DUPD1 338599 broad.mit.edu 37 10 76803619 76803619 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:76803619G>C uc001jwq.1 - 2 357 c.357C>G c.(355-357)TTC>TTG p.F119L NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 119 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CACTGAGGTCGAAGGTGGGCA 0.577 NaN 0 0 0 0.007413 0 18 68 PAPSS2 9060 broad.mit.edu 37 10 89501082 89501082 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:89501082C>T uc001kex.2 + 9 1425 c.1162C>T c.(1162-1164)CTG>TTG p.L388L PAPSS2_uc001kew.2_Silent_p.L393L NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 388 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CCAATACCGTCTGACACCTCT 0.378 NaN 0 0 0 0.006214 0 9 76 IFIT3 3437 broad.mit.edu 37 10 91099478 91099478 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:91099478G>A uc001kgf.2 + 2 1295 c.1066G>A c.(1066-1068)GAA>AAA p.E356K LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.E356K NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 356 type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 CCCTGATGCTGAAAAGCAACA 0.453 NaN 0 0 0 0.003954 0 27 38 CPN1 1369 broad.mit.edu 37 10 101841262 101841262 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:101841262C>G uc001kql.2 - 1 381 c.121G>C c.(121-123)GAA>CAA p.E41Q NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 41 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCGGGGCATTCGTTTTGCACC 0.597 NaN 0 0 0 0.001882 0 21 36 PKD2L1 9033 broad.mit.edu 37 10 102089772 102089772 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:102089772G>A uc001kqx.1 - 1 472 c.89C>T c.(88-90)TCC>TTC p.S30F PKD2L1_uc009xwm.1_5'UTR NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 30 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCCGTGTGGGGAAGGGGGACC 0.622 NaN 0 0 0 0.002222 0 39 80 CNNM2 54805 broad.mit.edu 37 10 104678701 104678701 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:104678701C>G uc001kwm.2 + 1 588 c.464C>G c.(463-465)TCA>TGA p.S155* CNNM2_uc001kwn.2_Nonsense_Mutation_p.S155*|CNNM2_uc001kwl.2_Nonsense_Mutation_p.S155* NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 155 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ATCCGCACCTCAGACATCATC 0.502 NaN 0 0 0 0.004656 0 28 196 CNNM2 54805 broad.mit.edu 37 10 104816644 104816644 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:104816644G>A uc001kwm.2 + 4 2120 c.1996G>A c.(1996-1998)GAG>AAG p.E666K CNNM2_uc001kwn.2_Missense_Mutation_p.E666K NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 666 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GAAATATGATGAGAAGAACAA 0.433 NaN 0 0 0 0.005524 0 35 98 ABLIM1 3983 broad.mit.edu 37 10 116307536 116307536 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:116307536C>G uc010qsg.1 - 5 773 c.674_splice c.e5-1 p.N225_splice ABLIM1_uc010qsh.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsi.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsk.1_Splice_Site_p.N149_splice|ABLIM1_uc009xyp.2_Splice_Site_p.N159_splice|ABLIM1_uc009xyo.2_Splice_Site_p.N73_splice NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCGGCACAATCTGAAAAAGAG 0.522 NaN 0 0 0 0.004482 0 8 32 INPP5F 22876 broad.mit.edu 37 10 121586615 121586615 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:121586615C>G uc001leo.2 + 20 2888 c.2722C>G c.(2722-2724)CTT>GTT p.L908V INPP5F_uc001lep.2_Missense_Mutation_p.L298V NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 908 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GTCCCAGTCTCTTAGCAGCAC 0.488 NaN 0 0 0 0.001855 0 14 68 TACC2 10579 broad.mit.edu 37 10 123844900 123844900 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:123844900C>G uc001lfv.2 + 4 3245 c.2885C>G c.(2884-2886)TCG>TGG p.S962W TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S962W|TACC2_uc010qtv.1_Missense_Mutation_p.S962W NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 962 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) TCGAGGGTCTCGCCTCCAGCA 0.537 NaN 0 0 0 0.002836 0 34 78 DMBT1 1755 broad.mit.edu 37 10 124380654 124380654 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:124380654C>T uc001lgk.1 + 41 5085 c.4979C>T c.(4978-4980)TCC>TTC p.S1660F DMBT1_uc001lgl.1_Missense_Mutation_p.S1650F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1032F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1660F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S363F|DMBT1_uc009yac.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1660 SRCR 13. 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) TATCGAGGCTCCTGGGGAACC 0.587 NaN 0 0 0 0.00361 0 101 231 DMBT1 1755 broad.mit.edu 37 10 124390773 124390773 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:124390773G>A uc001lgk.1 + 46 6041 c.5935G>A c.(5935-5937)GAA>AAA p.E1979K DMBT1_uc001lgl.1_Missense_Mutation_p.E1969K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1351K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1979K|DMBT1_uc010qtx.1_Missense_Mutation_p.E699K|DMBT1_uc009yab.1_Missense_Mutation_p.E682K|DMBT1_uc009yac.1_Missense_Mutation_p.E273K NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1979 SRCR 14. 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) TAATCATCGTGAAGATGCTGG 0.537 NaN 0 0 0 0.003271 0 30 139 DHX32 55760 broad.mit.edu 37 10 127542652 127542652 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:127542652C>T uc001ljf.1 - 4 1461 c.970G>A c.(970-972)GAA>AAA p.E324K DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.E324K|DHX32_uc009yam.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 324 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTTCTGTTTCATCGAGTGGC 0.388 NaN 0 0 0 0.00245 0 13 106 MKI67 4288 broad.mit.edu 37 10 129903899 129903899 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:129903899C>G uc001lke.2 - 13 6400 c.6205G>C c.(6205-6207)GAG>CAG p.E2069Q MKI67_uc001lkf.2_Missense_Mutation_p.E1709Q|MKI67_uc009yav.1_Missense_Mutation_p.E1644Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1219Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2069 16 X 122 AA approximate repeats.|9. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GATTGGGCCTCTTCCTTAGGT 0.483 NaN 0 0 0 0.00361 0 64 320 MKI67 4288 broad.mit.edu 37 10 129904445 129904445 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr10:129904445C>G uc001lke.2 - 13 5854 c.5659G>C c.(5659-5661)GAG>CAG p.E1887Q MKI67_uc001lkf.2_Missense_Mutation_p.E1527Q|MKI67_uc009yav.1_Missense_Mutation_p.E1462Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1037Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1887 16 X 122 AA approximate repeats.|8. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AATTCTTCCTCTACGTCTGCT 0.458 NaN 0 0 0 0.00874 0 42 346 CDHR5 53841 broad.mit.edu 37 11 618014 618014 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:618014G>A uc001lqj.2 - 14 2163 c.2058C>T c.(2056-2058)CTC>CTT p.L686L IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.L492L|CDHR5_uc009ycc.2_Silent_p.L520L|CDHR5_uc009ycd.2_Silent_p.L680L|CDHR5_uc001lql.2_Silent_p.L686L NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 686 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CAAGGACGGCGAGGCCAAGGA 0.682 NaN 0 0 0 0.001984 0 7 27 MUC5B 727897 broad.mit.edu 37 11 1157932 1157932 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:1157932C>G uc009ycr.1 + 9 1125 c.999C>G c.(997-999)TTC>TTG p.F333L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCCTGACTTCTGCCGTGAGT 0.687 NaN 0 0 0 0.006214 0 8 47 TRIM3 10612 broad.mit.edu 37 11 6470362 6470362 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:6470362C>T uc001mdh.2 - 13 2518 c.2131G>A c.(2131-2133)GAA>AAA p.E711K TRIM3_uc001mdi.2_Missense_Mutation_p.E711K|TRIM3_uc010raj.1_Missense_Mutation_p.E592K|TRIM3_uc009yfd.2_Missense_Mutation_p.E711K NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 711 NHL 6. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACAGTGGTTCTGCAGATGTG 0.547 NaN 0 0 0 0.008871 0 18 40 DNHD1 144132 broad.mit.edu 37 11 6592126 6592126 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:6592126C>T uc001mdw.3 + 42 13948 c.13384C>T c.(13384-13386)CGC>TGC p.R4462C DNHD1_uc001mea.3_Missense_Mutation_p.R731C|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.R730C|DNHD1_uc010rao.1_Missense_Mutation_p.R720C|DNHD1_uc009yfg.2_Missense_Mutation_p.R87C NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4462 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCACGTGATTCGCCAAGACGA 0.627 NaN 0 0 0 0.00499 0 18 42 IPO7 10527 broad.mit.edu 37 11 9435956 9435956 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:9435956C>T uc001mho.2 + 5 776 c.634C>T c.(634-636)CAG>TAG p.Q212* NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 212 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGCTCTTGTTCAGGTAATATC 0.343 NaN 0 0 0 0.006214 0 8 71 SBF2 81846 broad.mit.edu 37 11 9838482 9838482 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:9838482G>A uc001mib.2 - 29 4021 c.3883C>T c.(3883-3885)CAC>TAC p.H1295Y SBF2_uc001mid.2_5'UTR NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1295 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GAGGCCGAGTGATCCTTGCCT 0.507 NaN 0 0 0 0.001368 0 13 59 SBF2 81846 broad.mit.edu 37 11 10014566 10014566 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:10014566G>A uc001mib.2 - 11 1276 c.1138C>T c.(1138-1140)CAT>TAT p.H380Y SBF2_uc001mif.3_Missense_Mutation_p.H136Y NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 380 dDENN. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGCTCTGCATGAATTCTTATA 0.318 NaN 0 0 0 0.003271 0 32 81 MICALCL 84953 broad.mit.edu 37 11 12341262 12341262 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:12341262C>T uc001mkg.1 + 4 1737 c.1446C>T c.(1444-1446)CTC>CTT p.L482L NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 482 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) ACTTTCCCCTCAGAGCACAGG 0.468 NaN 0 0 0 0.002445 0 32 111 BTBD10 84280 broad.mit.edu 37 11 13435141 13435141 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:13435141C>T uc001mkz.2 - 6 1001 c.744G>A c.(742-744)CTG>CTA p.L248L BTBD10_uc010rcl.1_Silent_p.L256L|BTBD10_uc001mla.2_Silent_p.L232L|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.L200L|BTBD10_uc010rcn.1_Silent_p.L217L|BTBD10_uc009ygo.2_Silent_p.L200L NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 248 nucleus 0 Epithelial(150;0.0214) ATGCTTCTCTCAGTTCAGGAA 0.328 NaN 0 0 0 0.00308 0 8 61 HPS5 11234 broad.mit.edu 37 11 18309162 18309162 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:18309162G>A uc001mod.1 - 18 2915 c.2637C>T c.(2635-2637)ATC>ATT p.I879I HPS5_uc001moe.1_Silent_p.I765I|HPS5_uc001mof.1_Silent_p.I765I NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 879 cytosol ovary(1)|pancreas(1)|skin(1) 3 AAAGTTGTATGATATCCGATG 0.393 NaN Hermansky-Pudlak_syndrome 0 0 0 0.007413 0 20 50 MUC15 143662 broad.mit.edu 37 11 26584757 26584757 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:26584757G>C uc001mqx.2 - 3 1016 c.750C>G c.(748-750)GTC>GTG p.V250V ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.V277V|MUC15_uc001mqy.2_Intron NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 250 Helical; (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TAAGCAATGAGACACCCAGAA 0.343 NaN 0 0 0 0.002096 0 26 63 CCDC73 493860 broad.mit.edu 37 11 32636042 32636042 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:32636042G>T uc001mtv.2 - 16 1866 c.1822C>A c.(1822-1824)CCA>ACA p.P608T NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 608 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) CGAGTCCCTGGAAGCAATCTG 0.333 NaN 1 0 8.12818e-05 0.001984 9.68923e-05 7 36 QSER1 79832 broad.mit.edu 37 11 32955538 32955538 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:32955538C>T uc001mty.2 + 4 2614 c.2347C>T c.(2347-2349)CAG>TAG p.Q783* QSER1_uc001mtz.1_Nonsense_Mutation_p.Q544*|QSER1_uc001mua.2_Nonsense_Mutation_p.Q288* NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 783 Gln-rich. p.Q783Q(1) ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TGATCATTCTCAGCAGCAACT 0.403 NaN 0 0 0 0.004007 0 16 104 CSTF3 1479 broad.mit.edu 37 11 33108639 33108639 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:33108639C>A uc001muh.2 - 18 1856 c.1690G>T c.(1690-1692)GCT>TCT p.A564S TCP11L1_uc001muf.1_Intron NM_001326 NP_001317 Q12996 CSTF3_HUMAN cleavage stimulation factor subunit 3 isoform 1 564 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding 0 ATAGAAGGAGCTACAACTGGG 0.433 NaN 1 0 1.5842e-08 0.001855 1.93326e-08 11 337 CRY2 1408 broad.mit.edu 37 11 45891150 45891150 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:45891150G>C uc010rgn.1 + 7 1061 c.1039G>C c.(1039-1041)GAC>CAC p.D347H CRY2_uc009ykw.2_Missense_Mutation_p.D265H|CRY2_uc010rgo.1_Missense_Mutation_p.D69H NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 326 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 CCCCAGGTTTGACCGCATGGA 0.592 NaN 0 0 0 0.007835 0 42 100 DGKZ 8525 broad.mit.edu 37 11 46387826 46387826 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:46387826G>A uc001ncn.1 + 2 145 c.20G>A c.(19-21)AGA>AAA p.R7K DGKZ_uc001nch.1_Intron|DGKZ_uc010rgq.1_Intron|DGKZ_uc001ncj.1_Intron|DGKZ_uc010rgr.1_Intron|DGKZ_uc001nck.1_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.1_Intron NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 7 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TTCTTTAGGAGACATTTCCGG 0.682 NaN 0 0 0 0.001984 0 7 19 DGKZ 8525 broad.mit.edu 37 11 46397143 46397143 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:46397143G>A uc001ncn.1 + 21 2561 c.2436G>A c.(2434-2436)CAG>CAA p.Q812Q DGKZ_uc001nch.1_Silent_p.Q640Q|DGKZ_uc010rgq.1_Silent_p.Q567Q|DGKZ_uc001ncj.1_Silent_p.Q590Q|DGKZ_uc010rgr.1_Silent_p.Q589Q|DGKZ_uc001nck.1_Silent_p.Q402Q|DGKZ_uc001ncl.2_Silent_p.Q624Q|DGKZ_uc001ncm.2_Silent_p.Q623Q|DGKZ_uc009yky.1_Silent_p.Q624Q|DGKZ_uc010rgs.1_Silent_p.Q601Q NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 812 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCATGGTGCAGAAGGCCAAGC 0.507 NaN 0 0 0 0.004482 0 5 12 ARFGAP2 84364 broad.mit.edu 37 11 47198344 47198344 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47198344G>C uc001ndt.2 - 1 76 c.61C>G c.(61-63)CCA>GCA p.P21A ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndu.2_Missense_Mutation_p.P21A|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndv.1_Missense_Mutation_p.P21A NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 21 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TTGTTGGTTGGAACTGCGCGA 0.617 NaN 0 0 0 0.004482 0 8 44 DDB2 1643 broad.mit.edu 37 11 47254407 47254407 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47254407C>T uc001neb.2 + 4 694 c.499C>T c.(499-501)CTC>TTC p.L167F DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L103F|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.L31F|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 167 WD 2. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 GTTTAACCCTCTCAATACCAA 0.498 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.000978 0 10 112 DDB2 1643 broad.mit.edu 37 11 47254409 47254409 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47254409C>T uc001neb.2 + 4 696 c.501C>T c.(499-501)CTC>CTT p.L167L DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.L103L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Silent_p.L31L|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 167 WD 2. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 TTAACCCTCTCAATACCAACC 0.498 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.000978 0 10 112 FNBP4 23360 broad.mit.edu 37 11 47744605 47744605 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:47744605G>C uc009ylv.2 - 15 2881 c.2728C>G c.(2728-2730)CCT>GCT p.P910A FNBP4_uc001ngi.2_Missense_Mutation_p.P224A|FNBP4_uc001ngj.2_Missense_Mutation_p.P817A NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 910 Pro-rich. ovary(1) 1 ggaggaggaggaggtggtggt 0.353 NaN 0 0 0 0.001168 0 6 6 PTPRJ 5795 broad.mit.edu 37 11 48152048 48152048 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:48152048C>T uc001ngp.3 + 8 1750 c.1395C>T c.(1393-1395)GTC>GTT p.V465V PTPRJ_uc001ngo.3_Silent_p.V465V NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 465 Extracellular (Potential).|Fibronectin type-III 5. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 TGACAGTGGTCAGCACGACGG 0.468 NaN 0 0 0 0.004007 0 16 44 OR5L2 26338 broad.mit.edu 37 11 55595152 55595152 + Missense_Mutation SNP C C T rs144590289 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:55595152C>T uc001nhy.1 + 1 458 c.458C>T c.(457-459)ACG>ATG p.T153M NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TTCTGTGGGACGGTGTGTTCT 0.488 NaN HNSCC(27;0.073) 0 0 0 0.004878 0 35 127 OR5T3 390154 broad.mit.edu 37 11 56020545 56020545 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56020545G>A uc010rjd.1 + 1 870 c.870G>A c.(868-870)ATG>ATA p.M290I NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 290 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TCAGTTATATGAGACCAAGTT 0.403 NaN 0 0 0 0.000978 0 11 96 OR5T1 390155 broad.mit.edu 37 11 56043552 56043552 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56043552G>A uc001nio.1 + 1 438 c.438G>A c.(436-438)GTG>GTA p.V146V NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 146 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGTATTCAGTGAGCATGTCAC 0.438 NaN 0 0 0 0.00361 0 64 200 OR8K1 390157 broad.mit.edu 37 11 56114212 56114212 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:56114212G>C uc010rjg.1 + 1 698 c.698G>C c.(697-699)AGA>ACA p.R233T NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GCCATTCTCAGAATGAACTCA 0.378 NaN HNSCC(65;0.19) 0 0 0 0.001368 0 13 53 OR5A2 219981 broad.mit.edu 37 11 59190117 59190117 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59190117C>A uc010rkt.1 - 1 310 c.310G>T c.(310-312)GTC>TTC p.V104F NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCACAGAAGACAAAGTACTGA 0.507 NaN 1 0 2.37509e-13 0.001523 2.96629e-13 21 56 OR4D11 219986 broad.mit.edu 37 11 59271544 59271544 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59271544C>T uc001noa.1 + 1 496 c.496C>T c.(496-498)CTC>TTC p.L166F NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTTGCTGCCTCTCCCTTTCTG 0.517 NaN 0 0 0 0.00361 0 54 172 OR4D11 219986 broad.mit.edu 37 11 59271963 59271963 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:59271963C>T uc001noa.1 + 1 915 c.915C>T c.(913-915)CTC>CTT p.L305L NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGAGAAGACTCGTGCCTTCTG 0.308 NaN 0 0 0 0.008291 0 11 53 FTH1 2495 broad.mit.edu 37 11 61732243 61732243 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732243G>C uc001nsu.2 - 4 743 c.508C>G c.(508-510)CTC>GTC p.L170V NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 170 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) TTGTCAAAGAGATATTCCGCC 0.522 NaN 0 0 0 0.003954 0 24 70 FTH1 2495 broad.mit.edu 37 11 61732561 61732561 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732561C>G uc001nsu.2 - 3 520 c.285G>C c.(283-285)GAG>GAC p.E95D NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 95 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) TCAGCCCGCTCTCCCAGTCAT 0.448 NaN 0 0 0 0.002836 0 33 221 FTH1 2495 broad.mit.edu 37 11 61732918 61732918 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:61732918C>G uc001nsu.2 - 2 419 c.184G>C c.(184-186)GAG>CAG p.E62Q NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 62 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) TCCCTCTCCTCATGAGATTGG 0.443 NaN 0 0 0 0.008361 0 30 212 AHNAK 79026 broad.mit.edu 37 11 62289440 62289440 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62289440G>A uc001ntl.2 - 5 12749 c.12449C>T c.(12448-12450)TCT>TTT p.S4150F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4150 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTTGGGCAGAGAAACGTCCAC 0.522 NaN 0 0 0 0.00874 0 45 132 INTS5 80789 broad.mit.edu 37 11 62414702 62414702 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62414702G>C uc001nud.2 - 2 2903 c.2850C>G c.(2848-2850)CTC>CTG p.L950L GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 950 Helical; (Potential). snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CATGCTCCCGGAGAAAACCCC 0.587 NaN 0 0 0 0.00361 0 49 198 INTS5 80789 broad.mit.edu 37 11 62415293 62415293 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62415293G>A uc001nud.2 - 2 2312 c.2259C>T c.(2257-2259)GTC>GTT p.V753V GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 753 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CACGGCCGATGACTCCAGCAT 0.547 NaN 0 0 0 0.006122 0 17 62 HNRNPUL2 221092 broad.mit.edu 37 11 62494157 62494157 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:62494157C>G uc001nuw.2 - 1 665 c.472G>C c.(472-474)GAG>CAG p.E158Q HNRNPUL2_uc001nuu.1_RNA|TTC9C_uc001nux.2_5'Flank|TTC9C_uc001nuy.2_5'Flank NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 158 Glu-rich. cell killing nucleus ATP binding|nucleic acid binding 0 CTCCGCTCCTCGGGTTCGTCT 0.701 NaN 0 0 0 0.001368 0 13 26 NRXN2 9379 broad.mit.edu 37 11 64410027 64410027 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64410027G>A uc001oap.2 - 2 760 c.249C>T c.(247-249)CTC>CTT p.L83L NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 83 Extracellular (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CGCCGCGGGTGAGGAAGGGCA 0.731 NaN 0 0 0 0.00308 0 7 18 PYGM 5837 broad.mit.edu 37 11 64520647 64520647 + Missense_Mutation SNP G G C rs142207594 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64520647G>C uc001oax.3 - 12 2233 c.1416C>G c.(1414-1416)TTC>TTG p.F472L PYGM_uc001oay.3_Missense_Mutation_p.F384L NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 472 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CCAGCTCATAGAAGTCTTTGA 0.577 NaN 0 0 0 0.00361 0 62 146 ATG2A 23130 broad.mit.edu 37 11 64665196 64665196 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64665196C>T uc001obx.2 - 36 5129 c.5014G>A c.(5014-5016)GAG>AAG p.E1672K ATG2A_uc001obw.2_Missense_Mutation_p.E437K NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1672 protein binding ovary(1)|central_nervous_system(1) 2 ATGGGGACCTCAGACGTGAAG 0.647 NaN 0 0 0 0.001368 0 12 48 ZNHIT2 741 broad.mit.edu 37 11 64884581 64884581 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:64884581C>T uc001ocw.2 - 1 590 c.545G>A c.(544-546)GGA>GAA p.G182E uc009yqb.1_Missense_Mutation_p.S151F NM_014205 NP_055020 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT domain containing 2 182 metal ion binding breast(1) 1 CGGGACATCTCCAAGAACCCG 0.726 NaN 0 0 0 0.001984 0 5 14 RELA 5970 broad.mit.edu 37 11 65427190 65427190 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:65427190G>C uc001ofg.2 - 6 646 c.506C>G c.(505-507)TCA>TGA p.S169* RELA_uc001ofh.2_Nonsense_Mutation_p.S166*|RELA_uc010ron.1_Nonsense_Mutation_p.S180*|RELA_uc009yqr.2_Nonsense_Mutation_p.S116*|RELA_uc001ofe.2_Nonsense_Mutation_p.S169*|RELA_uc001off.2_Nonsense_Mutation_p.S169*|RELA_uc009yqs.1_RNA NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 169 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GGGCCTGCCTGATGGGTCCCG 0.587 NaN 0 0 0 0.007291 0 26 74 BBS1 582 broad.mit.edu 37 11 66278173 66278173 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:66278173G>A uc001oij.1 + 1 55 c.43G>A c.(43-45)GAG>AAG p.E15K BBS1_uc001oii.1_Intron|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.E15K|BBS1_uc001oik.1_5'UTR|BBS1_uc001oil.1_Missense_Mutation_p.E15K NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 15 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 CTGCGGAGCTGAGAGGTGAAG 0.662 NaN Bardet-Biedl_syndrome 0 0 0 0.008291 0 9 32 KDM2A 22992 broad.mit.edu 37 11 67022406 67022406 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:67022406G>A uc001ojw.2 + 21 4233 c.3369G>A c.(3367-3369)TTG>TTA p.L1123L KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.L817L|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.2_Silent_p.L247L NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1123 LRR 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 ACGTCACCTTGATCGACCTTC 0.502 NaN 0 0 0 0.001984 0 6 19 CHKA 1119 broad.mit.edu 37 11 67888317 67888317 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:67888317C>T uc001onj.2 - 1 542 c.328G>A c.(328-330)GAG>AAG p.E110K CHKA_uc001onk.2_Missense_Mutation_p.E110K NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 110 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) ATGTGGAACTCGTCCTCGCGG 0.577 NaN 0 0 0 0.004007 0 13 47 PPFIA1 8500 broad.mit.edu 37 11 70189871 70189871 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:70189871G>C uc001opo.2 + 15 2002 c.1804G>C c.(1804-1806)GAT>CAT p.D602H PPFIA1_uc001opn.1_Missense_Mutation_p.D602H|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 602 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGACGTGTCTGATGGTGAAGA 0.532 NaN 0 0 0 0.001984 0 7 58 ARHGEF17 9828 broad.mit.edu 37 11 73078785 73078785 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73078785G>A uc001otu.2 + 21 6173 c.6152G>A c.(6151-6153)CGA>CAA p.R2051Q NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2051 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 ACTGTGGGTCGAGACGACAGC 0.632 NaN 0 0 0 0.004007 0 13 82 UCP3 7352 broad.mit.edu 37 11 73718076 73718076 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73718076C>T uc001our.2 - 2 367 c.12G>A c.(10-12)CTG>CTA p.L4L UCP3_uc001ous.2_Silent_p.L4L NM_003356 NP_003347 P55916 UCP3_HUMAN uncoupling protein 3 isoform UCP3L 4 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding pancreas(1) 1 Breast(11;2.08e-05) CTGAAGGCTTCAGTCCAACCA 0.602 NaN 0 0 0 0.000978 0 9 31 C2CD3 26005 broad.mit.edu 37 11 73820130 73820130 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73820130C>A uc001ouu.2 - 12 2138 c.1911G>T c.(1909-1911)TGG>TGT p.W637C NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 637 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGTTGGAATTCCACCAGTGCT 0.433 NaN 1 0 7.07596e-05 0.006122 8.44891e-05 19 47 C2CD3 26005 broad.mit.edu 37 11 73844510 73844510 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:73844510G>A uc001ouu.2 - 6 1275 c.1048C>T c.(1048-1050)CAT>TAT p.H350Y C2CD3_uc001ouv.2_Missense_Mutation_p.H350Y NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 350 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) ATAGGAGGATGAACTTGGTCC 0.393 NaN 0 0 0 0.00245 0 13 20 MAP6 4135 broad.mit.edu 37 11 75298605 75298605 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:75298605C>T uc001owu.2 - 4 2006 c.1941G>A c.(1939-1941)CCG>CCA p.P647P NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 647 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) TTTCATCCTTCGGATGCTCTG 0.512 NaN 0 0 0 0.00361 0 58 129 C11orf30 56946 broad.mit.edu 37 11 76257029 76257029 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:76257029G>C uc001oxl.2 + 20 3605 c.3462G>C c.(3460-3462)TTG>TTC p.L1154F C11orf30_uc001oxm.2_Missense_Mutation_p.L1056F|C11orf30_uc010rsb.1_Missense_Mutation_p.L1169F|C11orf30_uc010rsc.1_Missense_Mutation_p.L1155F|C11orf30_uc001oxn.2_Missense_Mutation_p.L1155F|C11orf30_uc010rsd.1_Missense_Mutation_p.L1063F|C11orf30_uc010rse.1_Missense_Mutation_p.L401F|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1154 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AAATGTCTTTGATGGAAGCTC 0.448 NaN 0 0 0 0.00333 0 26 59 ODZ4 26011 broad.mit.edu 37 11 78369325 78369325 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:78369325C>G uc001ozl.3 - 34 8551 c.8088G>C c.(8086-8088)CAG>CAC p.Q2696H ODZ4_uc001ozk.3_Missense_Mutation_p.Q921H|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2696 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GCACGGCTCTCTGCCGGGCCA 0.657 NaN 0 0 0 0.008291 0 10 21 CCDC81 60494 broad.mit.edu 37 11 86119250 86119250 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:86119250G>A uc001pbx.1 + 9 1479 c.1051G>A c.(1051-1053)GAT>AAT p.D351N CCDC81_uc001pbw.1_Missense_Mutation_p.D261N|CCDC81_uc010rtq.1_Missense_Mutation_p.D134N|CCDC81_uc001pby.1_Intron NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 351 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) AGAGATAGAAGATGAGAGACT 0.428 NaN 0 0 0 0.000978 0 11 35 KBTBD3 143879 broad.mit.edu 37 11 105923824 105923824 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:105923824C>G uc001pja.2 - 4 2232 c.1592G>C c.(1591-1593)TGG>TCG p.W531S KBTBD3_uc001pjb.2_Missense_Mutation_p.W531S|KBTBD3_uc009yxm.2_Missense_Mutation_p.W452S NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 527 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TTCGCCTTTCCAAACACAAGT 0.358 NaN 0 0 0 0.000602 0 5 46 DDX10 1662 broad.mit.edu 37 11 108577549 108577549 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:108577549C>T uc001pkm.2 + 10 1372 c.1307C>T c.(1306-1308)CCT>CTT p.P436L DDX10_uc001pkl.1_Missense_Mutation_p.P436L NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 436 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AAGAAAGTACCTGTGAAGGAA 0.373 NaN T NUP98 AML* 0 0 0 0.005443 0 27 154 ZBTB16 7704 broad.mit.edu 37 11 113934854 113934854 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:113934854G>C uc001pop.2 + 2 1096 c.832G>C c.(832-834)GAG>CAG p.E278Q ZBTB16_uc001poo.1_Missense_Mutation_p.E278Q|ZBTB16_uc001poq.2_Missense_Mutation_p.E278Q NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 278 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AAGAGGCAAAGAGGGGCCTGG 0.632 NaN 0 0 0 0.004482 0 8 41 ABCG4 64137 broad.mit.edu 37 11 119027643 119027643 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:119027643G>C uc001pvs.2 + 9 1323 c.987G>C c.(985-987)CAG>CAC p.Q329H ABCG4_uc009zar.2_Missense_Mutation_p.Q329H NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 329 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGGCTGTGCAGAATGGGCTGT 0.582 NaN 0 0 0 0.00278 0 22 98 POU2F3 25833 broad.mit.edu 37 11 120169015 120169015 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:120169015C>T uc001pxc.2 + 4 276 c.174C>T c.(172-174)CTC>CTT p.L58L POU2F3_uc010rzk.1_5'UTR|POU2F3_uc010rzl.1_5'UTR NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 58 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGCAGACCCTCTCCCATCGGC 0.532 NaN 0 0 0 0.002522 0 43 227 C11orf63 79864 broad.mit.edu 37 11 122805334 122805334 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:122805334C>T uc001pym.2 + 5 1482 c.1185C>T c.(1183-1185)CCC>CCT p.P395P NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 395 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATAACCCTCCCAGGCAGCAAC 0.463 NaN 0 0 0 0.00308 0 8 32 ST14 6768 broad.mit.edu 37 11 130059777 130059777 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:130059777C>T uc001qfw.2 + 5 777 c.584C>T c.(583-585)TCA>TTA p.S195L ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 195 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTGGTCACCTCAGTGGTGGCT 0.701 NaN 0 0 0 0.008871 0 18 85 CACNA1C 775 broad.mit.edu 37 12 2690861 2690861 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:2690861C>A uc009zdu.1 + 14 2314 c.2001C>A c.(1999-2001)CTC>CTA p.L667L CACNA1C_uc009zdv.1_Silent_p.L664L|CACNA1C_uc001qkb.2_Silent_p.L667L|CACNA1C_uc001qkc.2_Silent_p.L667L|CACNA1C_uc001qke.2_Silent_p.L667L|CACNA1C_uc001qkf.2_Silent_p.L667L|CACNA1C_uc001qjz.2_Silent_p.L667L|CACNA1C_uc001qkd.2_Silent_p.L667L|CACNA1C_uc001qkg.2_Silent_p.L667L|CACNA1C_uc009zdw.1_Silent_p.L667L|CACNA1C_uc001qkh.2_Silent_p.L667L|CACNA1C_uc001qkl.2_Silent_p.L667L|CACNA1C_uc001qkn.2_Silent_p.L667L|CACNA1C_uc001qko.2_Silent_p.L667L|CACNA1C_uc001qkp.2_Silent_p.L667L|CACNA1C_uc001qkr.2_Silent_p.L667L|CACNA1C_uc001qku.2_Silent_p.L667L|CACNA1C_uc001qkq.2_Silent_p.L667L|CACNA1C_uc001qks.2_Silent_p.L667L|CACNA1C_uc001qkt.2_Silent_p.L667L|CACNA1C_uc001qka.1_Silent_p.L202L|CACNA1C_uc001qki.1_Silent_p.L403L|CACNA1C_uc001qkj.1_Silent_p.L403L|CACNA1C_uc001qkk.1_Silent_p.L403L|CACNA1C_uc001qkm.1_Silent_p.L403L|CACNA1C_uc001qkw.2_5'Flank NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 667 II.|Helical; Name=S5 of repeat II; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) tcttctccctcctGGGGATGC 0.423 NaN 1 0 5.50884e-06 0.001368 6.64382e-06 12 86 ITFG2 55846 broad.mit.edu 37 12 2933049 2933049 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:2933049C>T uc001qlb.1 + 11 1244 c.1180C>T c.(1180-1182)CTG>TTG p.L394L ITFG2_uc010seb.1_Silent_p.L217L|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 394 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GTCTACCAATCTGGTGAAACT 0.582 NaN 0 0 0 0.00361 0 43 97 CD4 920 broad.mit.edu 37 12 6924060 6924060 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:6924060C>T uc001qqv.1 + 5 754 c.509C>T c.(508-510)TCC>TTC p.S170F CD4_uc009zez.1_Missense_Mutation_p.S115F|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 170 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) AAGACCCTCTCCGTGTCTCAG 0.552 NaN 0 0 0 0.001882 0 22 49 CLEC6A 93978 broad.mit.edu 37 12 8618181 8618181 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:8618181G>A uc001qum.1 + 4 442 c.325G>A c.(325-327)GAG>AAG p.E109K NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 109 Extracellular (Potential).|C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) GAACTGTGTTGAGATGGGAGC 0.363 NaN 0 0 0 0.003755 0 30 77 CLEC12A 160364 broad.mit.edu 37 12 10124258 10124258 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:10124258C>T uc001qwr.3 + 1 251 c.63C>T c.(61-63)ATC>ATT p.I21I CLEC12A_uc001qwq.2_Silent_p.I31I|CLEC12A_uc001qws.3_Silent_p.I21I|CLEC12A_uc001qwt.2_5'UTR NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 21 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 TGGAAAAAATCCCAGAAATTG 0.318 NaN 0 0 0 0.00499 0 18 73 BCL2L14 79370 broad.mit.edu 37 12 12247765 12247765 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:12247765C>G uc001rac.2 + 5 1047 c.846C>G c.(844-846)CTC>CTG p.L282L ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.L282L|BCL2L14_uc001rae.2_3'UTR NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 282 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CGGCCAAGCTCACAGCTATTG 0.552 NaN 0 0 0 0.007291 0 31 91 PLCZ1 89869 broad.mit.edu 37 12 18876389 18876389 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:18876389C>T uc010sid.1 - 4 414 c.223G>A c.(223-225)GAG>AAG p.E75K PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_Intron NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 75 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTGAAAATCTCAATAATTTCT 0.338 NaN 0 0 0 0.004007 0 16 65 PDE3A 5139 broad.mit.edu 37 12 20801786 20801786 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:20801786G>A uc001reh.1 + 13 2752 c.2730G>A c.(2728-2730)CTG>CTA p.L910L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 910 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCACTGACCTGAAGAAACACT 0.323 NaN 0 0 0 0.003271 0 31 64 C12orf71 728858 broad.mit.edu 37 12 27235150 27235150 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:27235150G>T uc001rhq.2 - 1 306 c.267C>A c.(265-267)TTC>TTA p.F89L NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 89 0 CCCAGGCCAGGAAGATGCTTA 0.483 NaN 1 0 0.00307968 0.00308 0.00364399 7 52 IPO8 10526 broad.mit.edu 37 12 30833556 30833556 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:30833556C>T uc001rjd.2 - 5 669 c.499G>A c.(499-501)GAG>AAG p.E167K NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 167 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGTTCTCTCTCTTCTGCTTTC 0.318 NaN 0 0 0 0.007413 0 19 136 KIF21A 55605 broad.mit.edu 37 12 39703448 39703448 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:39703448G>C uc001rly.2 - 33 4363 c.4217C>G c.(4216-4218)TCA>TGA p.S1406* KIF21A_uc001rlv.2_Nonsense_Mutation_p.S351*|KIF21A_uc001rlw.2_Nonsense_Mutation_p.S676*|KIF21A_uc001rlx.2_Nonsense_Mutation_p.S1393*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.S1353*|KIF21A_uc010skl.1_Nonsense_Mutation_p.S1369*|KIF21A_uc001rlt.2_Nonsense_Mutation_p.S26*|KIF21A_uc001rlu.2_Nonsense_Mutation_p.S26* NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1406 WD 2. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) ATAAGATGTTGATACAGTGAA 0.393 NaN 0 0 0 0.001855 0 12 49 LRRK2 120892 broad.mit.edu 37 12 40629491 40629491 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:40629491G>A uc001rmg.3 + 4 532 c.411G>A c.(409-411)AAG>AAA p.K137K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 137 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) TTGGACTGAAGACCTTAGATC 0.303 NaN 0 0 0 0.001855 0 12 53 LASS5 91012 broad.mit.edu 37 12 50536906 50536906 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:50536906G>A uc001rwd.3 - 3 402 c.385C>T c.(385-387)CGG>TGG p.R129W LASS5_uc001rwc.2_Missense_Mutation_p.R48W|LASS5_uc001rwe.3_Missense_Mutation_p.R70W|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN LAG1 homolog, ceramide synthase 5 129 Cytoplasmic (Potential).|Homeobox. ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 TGATTCCTCCGATGGCGAAAC 0.478 NaN 0 0 0 0.00361 0 124 307 METTL7A 25840 broad.mit.edu 37 12 51323733 51323733 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51323733G>C uc001rxb.2 + 2 823 c.535G>C c.(535-537)GAG>CAG p.E179Q METTL7A_uc010smv.1_Nonstop_Mutation_p.*110S NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 179 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 TGTGGCAGCTGAGTGTTCGAC 0.428 NaN 0 0 0 0.00361 0 56 188 METTL7A 25840 broad.mit.edu 37 12 51323817 51323817 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51323817G>T uc001rxb.2 + 2 907 c.619G>T c.(619-621)GAG>TAG p.E207* METTL7A_uc010smv.1_3'UTR NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 207 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 CCTGACCAGAGAGAGCTGGAA 0.572 NaN 1 0 3.33393e-15 0.004878 4.18558e-15 38 127 CSRNP2 81566 broad.mit.edu 37 12 51467852 51467852 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51467852C>T uc001rxu.1 - 3 463 c.165G>A c.(163-165)CTG>CTA p.L55L NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 55 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTGCCGCTTCAGGATGGATG 0.383 NaN 0 0 0 0.00333 0 25 78 BIN2 51411 broad.mit.edu 37 12 51686023 51686023 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:51686023C>G uc001ryg.2 - 10 919 c.867G>C c.(865-867)GAG>GAC p.E289D BIN2_uc009zlz.2_Missense_Mutation_p.E257D|BIN2_uc001ryh.2_Missense_Mutation_p.E165D|BIN2_uc010sng.1_Missense_Mutation_p.E263D NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 289 cytoplasm protein binding ovary(1) 1 CAGATTCACTCTCACTCTTCA 0.488 NaN 0 0 0 0.004289 0 37 83 KRT6B 3854 broad.mit.edu 37 12 52843380 52843380 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:52843380G>T uc001sak.2 - 5 998 c.950C>A c.(949-951)TCC>TAC p.S317Y NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 317 Rod.|Linker 12. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) TAGCACCACGGATGTGTCTGA 0.527 NaN 1 0 2.75727e-19 0.004878 3.49206e-19 20 236 HOXC11 3227 broad.mit.edu 37 12 54367563 54367563 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54367563G>T uc001sem.2 + 1 654 c.538G>T c.(538-540)GAG>TAG p.E180* NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 180 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCCAAGGGGGAGCCCGAGGC 0.721 NaN T NUP98 AML 1 0 0.000157383 0.00308 0.000187454 8 33 HOXC11 3227 broad.mit.edu 37 12 54367605 54367605 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54367605G>A uc001sem.2 + 1 696 c.580G>A c.(580-582)GAG>AAG p.E194K NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 194 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTCCCGGGCTGAGGCGGGTGC 0.756 NaN T NUP98 AML 0 0 0 0.001984 0 7 13 HNRNPA1 3178 broad.mit.edu 37 12 54675946 54675946 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54675946G>C uc001sfl.2 + 4 456 c.352G>C c.(352-354)GAA>CAA p.E118Q CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zng.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009znh.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zni.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfn.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.E73Q|HNRNPA1_uc009znj.1_Missense_Mutation_p.E73Q NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 118 Globular B domain.|RRM 2. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 AGACACTGAAGAACATCACCT 0.383 NaN 0 0 0 0.00245 0 14 35 NFE2 4778 broad.mit.edu 37 12 54686808 54686808 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54686808G>A uc009znk.2 - 2 982 c.472C>T c.(472-474)CTT>TTT p.L158F NFE2_uc001sfq.2_Missense_Mutation_p.L158F|NFE2_uc001sfr.3_Missense_Mutation_p.L158F|NFE2_uc009znl.2_Missense_Mutation_p.L158F NM_006163 NP_006154 Q16621 NFE2_HUMAN nuclear factor, erythroid derived 2 isoform 1 158 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding 0 TCCAGCTCAAGAGATTCAGCA 0.572 NaN 0 0 0 0.00361 0 48 133 NFE2 4778 broad.mit.edu 37 12 54686810 54686810 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54686810G>A uc009znk.2 - 2 980 c.470C>T c.(469-471)TCT>TTT p.S157F NFE2_uc001sfq.2_Missense_Mutation_p.S157F|NFE2_uc001sfr.3_Missense_Mutation_p.S157F|NFE2_uc009znl.2_Missense_Mutation_p.S157F NM_006163 NP_006154 Q16621 NFE2_HUMAN nuclear factor, erythroid derived 2 isoform 1 157 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding 0 CAGCTCAAGAGATTCAGCATC 0.567 NaN 0 0 0 0.00361 0 50 133 GPR84 53831 broad.mit.edu 37 12 54756605 54756605 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:54756605C>G uc001sfu.2 - 2 1121 c.1031G>C c.(1030-1032)AGA>ACA p.R344T NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 344 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity breast(2) 2 AGCCTGGACTCTGGCATCCAG 0.537 NaN 0 0 0 0.00361 0 66 150 ERBB3 2065 broad.mit.edu 37 12 56481671 56481671 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 T C T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56481671T>C uc001sjh.2 + 6 899 c.706T>C c.(706-708)TCA>CCA p.S236P ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S177P|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 236 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CGGGGGCTGCTCAGGCCCTCA 0.547 NaN 0 0 0 0.00361 0 49 140 MYL6 4637 broad.mit.edu 37 12 56553863 56553863 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56553863C>T uc001sjw.1 + 4 366 c.280C>T c.(280-282)CGG>TGG p.R94W MYL6_uc001sjv.2_Missense_Mutation_p.R94W|MYL6_uc001sjx.1_Missense_Mutation_p.R94W|MYL6_uc010sqd.1_Missense_Mutation_p.R187W|MYL6_uc001sjz.2_Missense_Mutation_p.R59W|MYL6_uc010sqe.1_Missense_Mutation_p.R59W NM_021019 NP_066299 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and 94 EF-hand 2. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(18;0.0979) CGAAGGACTTCGGGTGTTTGA 0.512 NaN 0 0 0 0.005443 0 27 63 TIMELESS 8914 broad.mit.edu 37 12 56822358 56822358 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:56822358C>A uc001slf.2 - 12 1551 c.1383G>T c.(1381-1383)GTG>GTT p.V461V TIMELESS_uc001slg.2_Silent_p.V460V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 461 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TGCTCTCCCTCACAGCCTCAT 0.562 NaN 1 0 0.00136819 0.001368 0.00162558 12 42 LEMD3 23592 broad.mit.edu 37 12 65639552 65639552 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:65639552G>A uc001ssl.1 + 11 2497 c.2491G>A c.(2491-2493)GAG>AAG p.E831K LEMD3_uc009zqo.1_Missense_Mutation_p.E830K NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 831 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) AAATTCACGTGAGGTAAAGTA 0.313 NaN 0 0 0 0.002096 0 34 60 MDM1 56890 broad.mit.edu 37 12 68707440 68707440 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:68707440G>C uc001stz.2 - 10 1729 c.1593C>G c.(1591-1593)CTC>CTG p.L531L MDM1_uc010stc.1_Silent_p.L496L|MDM1_uc009zqv.1_Silent_p.L251L NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 531 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTGGAGTAGTGAGATCATGAT 0.408 NaN 0 0 0 0.00278 0 24 158 TBC1D15 64786 broad.mit.edu 37 12 72316827 72316827 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:72316827C>T uc001swu.2 + 18 1994 c.1985C>T c.(1984-1986)TCA>TTA p.S662L TBC1D15_uc010stt.1_Missense_Mutation_p.S631L|TBC1D15_uc001swv.2_Missense_Mutation_p.S645L|TBC1D15_uc001sww.2_Missense_Mutation_p.S394L NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 640 protein binding|Rab GTPase activator activity 0 ACACCAGATTCAGACGTTGGT 0.428 NaN 0 0 0 0.006122 0 19 142 LRRIQ1 84125 broad.mit.edu 37 12 85466779 85466779 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:85466779C>T uc001tac.2 + 11 2901 c.2790C>T c.(2788-2790)GTC>GTT p.V930V LRRIQ1_uc001tab.1_Silent_p.V930V NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 930 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TGGCACAAGTCTGGATTCCAA 0.403 NaN 0 0 0 0.00499 0 17 76 EEA1 8411 broad.mit.edu 37 12 93172980 93172980 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:93172980C>G uc001tck.2 - 25 3830 c.3565G>C c.(3565-3567)GAG>CAG p.E1189Q NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 1189 Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TTTCTCTTCTCCTGTTCAACA 0.388 NaN 0 0 0 0.002445 0 34 100 DEPDC4 120863 broad.mit.edu 37 12 100657378 100657378 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:100657378C>G uc001thi.2 - 2 454 c.451G>C c.(451-453)GAA>CAA p.E151Q DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.E84Q|DEPDC4_uc009ztv.1_Missense_Mutation_p.E151Q|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 151 DEP. intracellular signal transduction 0 TTGGAATCTTCAAATTCTAAT 0.333 NaN 0 0 0 0.00499 0 18 39 SLC17A8 246213 broad.mit.edu 37 12 100797851 100797851 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:100797851G>A uc010svi.1 + 9 1402 c.1089G>A c.(1087-1089)ATG>ATA p.M363I SLC17A8_uc009ztx.2_Missense_Mutation_p.M313I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 363 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 ACATGGTTATGACAATCGTTG 0.428 NaN 0 0 0 0.001523 0 20 65 ALDH1L2 160428 broad.mit.edu 37 12 105456731 105456731 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:105456731C>G uc001tlc.2 - 7 983 c.856G>C c.(856-858)GGT>CGT p.G286R ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 286 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 TTCTTGGCACCTTTAATTTCC 0.403 NaN 0 0 0 0.008871 0 19 55 SVOP 55530 broad.mit.edu 37 12 109306319 109306319 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:109306319G>C uc010sxh.1 - 15 1811 c.1639C>G c.(1639-1641)CAG>GAG p.Q547E NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 547 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 CACTATTCCTGAGAGCCAGAG 0.632 NaN 0 0 0 0.00361 0 67 185 SVOP 55530 broad.mit.edu 37 12 109309593 109309593 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:109309593C>G uc010sxh.1 - 14 1578 c.1406G>C c.(1405-1407)AGA>ACA p.R469T NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 469 Helical; (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 AGCACCCACTCTTGCCATGCC 0.592 NaN 0 0 0 0.001168 0 4 11 ERP29 10961 broad.mit.edu 37 12 112460294 112460294 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:112460294G>C uc001ttk.1 + 3 742 c.624G>C c.(622-624)AAG>AAC p.K208N ERP29_uc001ttl.1_3'UTR NM_006817 NP_006808 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 isoform 1 208 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity 0 TCATGGGGAAGATCTTAGACC 0.542 NaN 0 0 0 0.00499 0 17 48 TRAFD1 10906 broad.mit.edu 37 12 112585913 112585913 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:112585913C>T uc001ttp.2 + 8 1049 c.963C>T c.(961-963)CTC>CTT p.L321L TRAFD1_uc001tto.2_Silent_p.L321L|TRAFD1_uc010syj.1_RNA NM_006700 NP_006691 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 321 negative regulation of innate immune response intracellular protein binding|zinc ion binding 0 TACCTTCACTCAATACTGGCA 0.423 NaN 0 0 0 0.003163 0 15 47 OAS3 4940 broad.mit.edu 37 12 113376424 113376424 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:113376424G>A uc001tug.2 + 1 176 c.89G>A c.(88-90)CGG>CAG p.R30Q OAS3_uc001tue.2_Missense_Mutation_p.R30Q|OAS3_uc001tuf.2_Missense_Mutation_p.R30Q NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 30 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GAGAAGGCGCGGCGCGCTCTG 0.721 NaN 0 0 0 0.001984 0 6 31 FBXW8 26259 broad.mit.edu 37 12 117402587 117402587 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:117402587G>A uc001twg.1 + 5 845 c.763G>A c.(763-765)GAG>AAG p.E255K FBXW8_uc001twf.1_Missense_Mutation_p.E189K|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 255 WD 2. protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CGAGGAGGATGAGCCTGGAAT 0.522 NaN 0 0 0 0.008871 0 19 176 CIT 11113 broad.mit.edu 37 12 120288075 120288075 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:120288075G>A uc001txi.1 - 5 472 c.419C>T c.(418-420)TCA>TTA p.S140L CIT_uc001txj.1_Missense_Mutation_p.S140L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 140 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTCAAAAAATGAAACCTAGGG 0.393 NaN 0 0 0 0.00361 0 71 202 DDX55 57696 broad.mit.edu 37 12 124104529 124104529 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124104529G>C uc001ufi.2 + 14 1669 c.1645G>C c.(1645-1647)GAG>CAG p.E549Q DDX55_uc001ufk.2_Missense_Mutation_p.E402Q|DDX55_uc001ufl.2_Missense_Mutation_p.E156Q NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 549 Lys-rich. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TATTGAAGATGAGGACATGGA 0.348 NaN 0 0 0 0.008871 0 19 73 ATP6V0A2 23545 broad.mit.edu 37 12 124212437 124212437 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124212437C>T uc001ufr.2 + 6 877 c.629C>T c.(628-630)TCC>TTC p.S210F ATP6V0A2_uc001ufq.1_Missense_Mutation_p.S210F NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 210 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CTGGATGAATCCCTTGAAGAC 0.408 NaN 0 0 0 0.001168 0 6 64 DNAH10 196385 broad.mit.edu 37 12 124398924 124398924 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:124398924G>A uc001uft.3 + 60 10072 c.10047G>A c.(10045-10047)CTG>CTA p.L3349L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3349 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAAGCTGCTGGGGGACTGCC 0.607 NaN 0 0 0 0.003954 0 23 74 SFRS8 6433 broad.mit.edu 37 12 132198734 132198734 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:132198734G>C uc001uja.1 + 2 477 c.337G>C c.(337-339)GAG>CAG p.E113Q SFRS8_uc010tbn.1_Missense_Mutation_p.E113Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Missense_Mutation_p.K2N NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 113 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) GTGTGATGAAGAGAGGTATTT 0.453 NaN 0 0 0 0.000602 0 5 35 GOLGA3 2802 broad.mit.edu 37 12 133381374 133381374 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:133381374C>T uc001ukz.1 - 7 2084 c.1525G>A c.(1525-1527)GAG>AAG p.E509K GOLGA3_uc001ula.1_Missense_Mutation_p.E509K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E509K NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 509 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TACTGCTCCTCGGCCACCTGC 0.607 NaN 0 0 0 0.00632 0 28 66 PARP4 143 broad.mit.edu 37 13 25008601 25008601 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:25008601C>T uc001upl.2 - 31 4784 c.4678G>A c.(4678-4680)GAA>AAA p.E1560K NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1560 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CACACTATTTCATCCTCTTCT 0.398 NaN 0 0 0 0.003163 0 16 96 MTMR6 9107 broad.mit.edu 37 13 25826037 25826037 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:25826037G>A uc001uqf.3 - 12 1751 c.1432C>T c.(1432-1434)CAC>TAC p.H478Y MTMR6_uc001uqe.1_Missense_Mutation_p.H478Y NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 478 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTAAATCTGTGAGATTCGGAA 0.323 NaN 0 0 0 0.008361 0 29 204 CDK8 1024 broad.mit.edu 37 13 26928010 26928010 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:26928010G>C uc001uqr.1 + 4 475 c.449G>C c.(448-450)AGA>ACA p.R150T CDK8_uc001uqs.1_Missense_Mutation_p.R150T|CDK8_uc001uqt.1_5'UTR NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 150 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GTGTTGCACAGAGATTTGGTA 0.408 NaN 0 0 0 0.004482 0 7 44 USPL1 10208 broad.mit.edu 37 13 31232711 31232711 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:31232711C>T uc001utc.2 + 9 2929 c.2497C>T c.(2497-2499)CCA>TCA p.P833S USPL1_uc001utd.2_Missense_Mutation_p.P504S|USPL1_uc001ute.1_Missense_Mutation_p.P504S NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 833 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AGCAGGCCCTCCATCGTCTAA 0.502 NaN 0 0 0 0.00499 0 14 97 FRY 10129 broad.mit.edu 37 13 32811517 32811517 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:32811517T>G uc001utx.2 + 44 6308 c.5812T>G c.(5812-5814)TCT>GCT p.S1938A FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1938 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TATACCCAGCTCTTCCTCACC 0.453 NaN 0 0 0 0.008291 0 10 42 AKAP11 11215 broad.mit.edu 37 13 42874796 42874796 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:42874796A>G uc001uys.1 + 8 2089 c.1914A>G c.(1912-1914)ATA>ATG p.I638M NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 638 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAAGCAGATATTCACAAACA 0.398 NaN 0 0 0 0.00308 0 8 72 PCDH8 5100 broad.mit.edu 37 13 53421533 53421533 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:53421533C>T uc001vhi.2 - 1 1242 c.1039G>A c.(1039-1041)GTC>ATC p.V347I PCDH8_uc001vhj.2_Missense_Mutation_p.V347I NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 347 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTGTCATTGACGTCTCGGATG 0.726 NaN 0 0 0 0.006214 0 8 31 PCDH9 5101 broad.mit.edu 37 13 67802023 67802023 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:67802023C>A uc001vik.2 - 2 1242 c.550G>T c.(550-552)GGG>TGG p.G184W PCDH9_uc001vil.2_Missense_Mutation_p.G184W|PCDH9_uc010thl.1_Missense_Mutation_p.G184W|PCDH9_uc001vin.3_Missense_Mutation_p.G184W NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 184 Extracellular (Potential).|Cadherin 2. 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) ACACTCTGCCCATTTAACAAT 0.428 NaN 1 0 0.00198382 0.001984 0.00235119 7 141 ITGBL1 9358 broad.mit.edu 37 13 102235651 102235651 + Nonsense_Mutation SNP T T A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:102235651T>A uc001vpb.2 + 6 1032 c.813T>A c.(811-813)TGT>TGA p.C271* ITGBL1_uc010agb.2_Nonsense_Mutation_p.C222*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.C130* NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 271 V.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCTGTGAATGTGATGAGAGGG 0.443 NaN 0 0 0 0.002445 0 33 141 MYO16 23026 broad.mit.edu 37 13 109613989 109613989 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:109613989C>T uc001vqt.1 + 18 2200 c.2074C>T c.(2074-2076)CAG>TAG p.Q692* MYO16_uc010agk.1_Nonsense_Mutation_p.Q714*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q492*|MYO16_uc010tjh.1_Nonsense_Mutation_p.Q204* NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 692 Myosin head-like 1. 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) TTCTGACCTCCAGCTCCTGGA 0.458 NaN 0 0 0 0.002222 0 40 68 MCF2L 23263 broad.mit.edu 37 13 113720402 113720402 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:113720402G>C uc001vsu.2 + 8 992 c.970G>C c.(970-972)GAG>CAG p.E324Q MCF2L_uc001vsq.2_Missense_Mutation_p.E324Q|MCF2L_uc010tjr.1_Missense_Mutation_p.E267Q|MCF2L_uc001vsr.2_Missense_Mutation_p.E271Q|MCF2L_uc001vss.3_Missense_Mutation_p.E265Q|MCF2L_uc010tjs.1_Missense_Mutation_p.E265Q|MCF2L_uc001vst.1_Missense_Mutation_p.E229Q NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 297 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CAGTGTCCTGGAGAGCCTCAG 0.642 NaN 0 0 0 0.006214 0 9 19 ATP4B 496 broad.mit.edu 37 13 114309237 114309237 + Missense_Mutation SNP C C T rs142885298 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr13:114309237C>T uc001vtz.2 - 2 175 c.133G>A c.(133-135)GTG>ATG p.V45M ATP4B_uc010agy.1_Missense_Mutation_p.V45M NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 45 Helical; Signal-anchor for type II membrane protein; (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) TAGAAGGCCACGTAGTACAGG 0.428 NaN 0 0 0 0.002836 0 34 51 PABPN1 8106 broad.mit.edu 37 14 23792231 23792231 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:23792231G>A uc001wjk.2 + 3 1772 c.490G>A c.(490-492)GAG>AAG p.E164K PABPN1_uc001wjh.3_Missense_Mutation_p.E191K|PABPN1_uc001wjj.2_Missense_Mutation_p.E164K NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 164 Necessary for homooligomerization. modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CATGTCCATTGAGGAGAAGAT 0.418 NaN 0 0 0 0.00361 0 62 132 REC8 9985 broad.mit.edu 37 14 24648862 24648862 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:24648862G>C uc001wmr.2 + 19 1808 c.1381G>C c.(1381-1383)GAG>CAG p.E461Q REC8_uc001wms.2_Missense_Mutation_p.E461Q NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 461 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) TGAACTCCCTGAGGTGCCCAT 0.627 NaN 0 0 0 0.003954 0 27 68 KHNYN 23351 broad.mit.edu 37 14 24901328 24901328 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:24901328C>G uc001wph.3 + 3 1063 c.861C>G c.(859-861)CTC>CTG p.L287L KHNYN_uc010tpc.1_Silent_p.L328L|KHNYN_uc010alw.2_Silent_p.L287L|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 287 ovary(2)|liver(1) 3 AAGTGGCCCTCAGGCCACAGT 0.627 NaN OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 8 46 RALGAPA1 253959 broad.mit.edu 37 14 36096603 36096603 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:36096603C>G uc001wti.2 - 33 5423 c.5032G>C c.(5032-5034)GAA>CAA p.E1678Q RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.E1678Q|RALGAPA1_uc010tpv.1_Missense_Mutation_p.E1691Q|RALGAPA1_uc010tpw.1_Missense_Mutation_p.E1725Q NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1678 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AGAACATCTTCTTCATCTCTT 0.368 NaN 0 0 0 0.000978 0 11 121 MGAT2 4247 broad.mit.edu 37 14 50088560 50088560 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:50088560G>A uc001wwr.2 + 1 1072 c.574G>A c.(574-576)GAC>AAC p.D192N SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 192 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) TCCAGGTAGTGACCCTAGAGA 0.507 NaN 0 0 0 0.002222 0 45 121 KLHDC1 122773 broad.mit.edu 37 14 50175883 50175883 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:50175883G>T uc001www.2 + 2 131 c.103G>T c.(103-105)GAA>TAA p.E35* SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_5'UTR|KLHDC1_uc010tqh.1_5'UTR NM_172193 NP_751943 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 35 Kelch 1. cytoplasm pancreas(1) 1 all_epithelial(31;0.00244)|Breast(41;0.00964) TTAGTCTATTGAAGACAATGA 0.289 NaN 1 0 9.31168e-06 0.001855 1.12208e-05 13 74 GNPNAT1 64841 broad.mit.edu 37 14 53248520 53248520 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:53248520G>A uc001xab.2 - 4 582 c.327C>T c.(325-327)TTC>TTT p.F109F NM_198066 NP_932332 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 109 Substrate binding.|N-acetyltransferase. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity 0 Breast(41;0.176) AGGAATGGATGAATTTATGTT 0.358 NaN 0 0 0 0.007291 0 30 106 FBXO34 55030 broad.mit.edu 37 14 55817300 55817300 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:55817300C>G uc001xbu.2 + 2 437 c.192C>G c.(190-192)ATC>ATG p.I64M FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.I64M NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 64 ovary(2)|lung(2)|skin(1) 5 CATTTGGGATCCTTTCTCCAA 0.438 NaN 0 0 0 0.00361 0 54 109 FBXO34 55030 broad.mit.edu 37 14 55817474 55817474 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:55817474C>G uc001xbu.2 + 2 611 c.366C>G c.(364-366)TTC>TTG p.F122L FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.F122L NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 122 ovary(2)|lung(2)|skin(1) 5 AAATTGCATTCTTTGCATCCC 0.428 NaN 0 0 0 0.002299 0 23 34 DAAM1 23002 broad.mit.edu 37 14 59819345 59819345 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:59819345G>A uc001xdz.1 + 19 2417 c.2292G>A c.(2290-2292)ATG>ATA p.M764I DAAM1_uc001xea.1_Missense_Mutation_p.M754I|DAAM1_uc001xec.1_5'Flank NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 764 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTTTTGAGATGAGCCGGTGAG 0.398 NaN 0 0 0 0.000248 0 4 14 DAAM1 23002 broad.mit.edu 37 14 59834201 59834201 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:59834201G>C uc001xdz.1 + 25 3036 c.2911G>C c.(2911-2913)GAG>CAG p.E971Q DAAM1_uc001xea.1_Missense_Mutation_p.E961Q|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 971 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACAACCAGATGAGTTCTTTGG 0.378 NaN 0 0 0 0.003163 0 14 62 SIX1 6495 broad.mit.edu 37 14 61115580 61115580 + Missense_Mutation SNP G G A rs80356459 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:61115580G>A uc001xfb.3 - 1 576 c.328C>T c.(328-330)CGG>TGG p.R110W NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 110 R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction). branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CGGCGCACCCGATATTTGCCC 0.632 NaN 0 0 0 0.007835 0 43 76 GPHN 10243 broad.mit.edu 37 14 67291216 67291216 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:67291216G>A uc001xiy.2 + 4 1347 c.226G>A c.(226-228)GAA>AAA p.E76K GPHN_uc001xiw.2_Intron|GPHN_uc001xix.2_Missense_Mutation_p.E76K|GPHN_uc010tss.1_Missense_Mutation_p.E76K|GPHN_uc010tst.1_Intron|GPHN_uc010tsu.1_5'UTR NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 76 MPT Mo-transferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTGGTGTGATGAAAAGGAACT 0.398 NaN T MLL AL 0 0 0 0.001368 0 11 35 PCNX 22990 broad.mit.edu 37 14 71479708 71479708 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:71479708C>G uc001xmo.2 + 11 3231 c.2785C>G c.(2785-2787)CTC>GTC p.L929V PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 929 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTAGCTCTCTCTCCCACAGAT 0.328 NaN 0 0 0 0.006214 0 9 62 DCAF4 26094 broad.mit.edu 37 14 73404761 73404761 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:73404761C>G uc001xng.2 + 2 295 c.75C>G c.(73-75)CTC>CTG p.L25L DCAF4_uc001xnj.2_Silent_p.L25L|DCAF4_uc010ttr.1_Missense_Mutation_p.S14C|DCAF4_uc001xnh.2_Intron|DCAF4_uc010tts.1_Silent_p.L25L|DCAF4_uc010ttt.1_5'UTR|DCAF4_uc001xni.2_Silent_p.L25L|DCAF4_uc001xnk.2_Silent_p.L25L NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 25 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 GGTTCAGACTCCGTGATTCTG 0.488 NaN 0 0 0 0.004878 0 35 102 RBM25 58517 broad.mit.edu 37 14 73576063 73576063 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:73576063C>T uc001xno.2 + 14 1763 c.1555C>T c.(1555-1557)CAG>TAG p.Q519* RBM25_uc010ttu.1_Nonsense_Mutation_p.Q519*|RBM25_uc001xnp.2_Nonsense_Mutation_p.Q314* NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 519 Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AAGTGCTCTTCAGAAAAGGTT 0.428 NaN 0 0 0 0.00874 0 37 118 FAM161B 145483 broad.mit.edu 37 14 74411204 74411204 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:74411204G>C uc001xpd.1 - 3 865 c.759C>G c.(757-759)CTC>CTG p.L253L NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 TCAAAGAAGAGAGGAGCAGTT 0.567 NaN 0 0 0 0.004656 0 26 74 TMED8 283578 broad.mit.edu 37 14 77808143 77808143 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:77808143G>C uc001xto.1 - 6 949 c.949C>G c.(949-951)CTC>GTC p.L317V TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.L161V NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 317 GOLD. transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) TGGAAGTAGAGAGTCTTGTTG 0.577 NaN 0 0 0 0.002522 0 38 86 AHSA1 10598 broad.mit.edu 37 14 77934848 77934848 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:77934848G>A uc001xtw.2 + 8 1001 c.841G>A c.(841-843)GAG>AAG p.E281K AHSA1_uc010tvk.1_Missense_Mutation_p.E281K NM_012111 NP_036243 O95433 AHSA1_HUMAN activator of heat shock 90kDa protein ATPase 281 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ATCTTGGCCAGAGGGTAAGTA 0.279 NaN 0 0 0 0.008871 0 18 61 EML5 161436 broad.mit.edu 37 14 89124543 89124543 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:89124543C>T uc001xxg.2 - 27 4051 c.3865G>A c.(3865-3867)GAA>AAA p.E1289K EML5_uc001xxf.2_Missense_Mutation_p.E84K|EML5_uc001xxh.1_Missense_Mutation_p.E428K NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1289 cytoplasm|microtubule ovary(3) 3 CCATCTTCTTCAGAATCAATG 0.363 NaN 0 0 0 0.005443 0 27 77 DDX24 57062 broad.mit.edu 37 14 94528596 94528596 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:94528596C>G uc001ycj.2 - 3 1189 c.1090G>C c.(1090-1092)GAG>CAG p.E364Q DDX24_uc010twq.1_Missense_Mutation_p.E321Q|DDX24_uc010twr.1_Missense_Mutation_p.E114Q NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 364 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) CCAGTCTGCTCTTTATCAAGA 0.483 NaN 0 0 0 0.002852 0 41 110 DYNC1H1 1778 broad.mit.edu 37 14 102493971 102493971 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:102493971G>C uc001yks.2 + 47 9228 c.9064G>C c.(9064-9066)GAA>CAA p.E3022Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3022 AAA 4 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGGTCTCTTTGAAGGAGACGA 0.542 NaN 0 0 0 0.004007 0 17 44 DYNC1H1 1778 broad.mit.edu 37 14 102502930 102502930 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr14:102502930G>A uc001yks.2 + 57 11023 c.10859G>A c.(10858-10860)AGA>AAA p.R3620K NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3620 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GACGCCTTCAGAAAGAACTTA 0.468 NaN 0 0 0 0.007835 0 40 118 OR4M2 390538 broad.mit.edu 37 15 22369079 22369079 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:22369079C>T uc010tzu.1 + 1 504 c.504C>T c.(502-504)TTC>TTT p.F168F LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTTCCTTTCTGTGGGCCCA 0.493 NaN 0 0 0 0.00361 0 68 406 MKRN3 7681 broad.mit.edu 37 15 23811021 23811021 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:23811021A>G uc001ywh.3 + 1 568 c.92A>G c.(91-93)GAC>GGC p.D31G MKRN3_uc001ywi.2_Missense_Mutation_p.D31G|MKRN3_uc010ayi.1_Missense_Mutation_p.D31G NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 31 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCTGGGCCGGACCTTCCCGTC 0.667 NaN 0 0 0 0.004672 0 3 40 OCA2 4948 broad.mit.edu 37 15 28277301 28277301 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:28277301G>T uc001zbh.3 - 3 346 c.236C>A c.(235-237)TCT>TAT p.S79Y OCA2_uc010ayv.2_Missense_Mutation_p.S79Y NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 79 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGGCAAAGAAGAGTGAGACCT 0.443 NaN Oculocutaneous_Albinism 1 0 1.75199e-13 0.007291 2.18998e-13 31 82 HERC2 8924 broad.mit.edu 37 15 28437183 28437183 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:28437183G>A uc001zbj.2 - 53 8481 c.8375C>T c.(8374-8376)TCG>TTG p.S2792L HERC2_uc001zbk.1_Missense_Mutation_p.S327L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2792 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACGGAGGACGACACATTCAG 0.587 NaN OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 53 166 ARHGAP11A 9824 broad.mit.edu 37 15 32929006 32929006 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:32929006C>T uc001zgy.1 + 12 2754 c.2032C>T c.(2032-2034)CAA>TAA p.Q678* ARHGAP11A_uc010ubw.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_uc010ubx.1_Nonsense_Mutation_p.Q489* NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 678 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TTCACCCCTTCAAACTCAAAC 0.308 NaN 0 0 0 0.001984 0 7 29 SCG5 6447 broad.mit.edu 37 15 32988730 32988730 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:32988730C>G uc001zha.2 + 6 676 c.559C>G c.(559-561)CTA>GTA p.L187V SCG5_uc001zgz.2_Missense_Mutation_p.L186V NM_001144757 NP_001138229 P05408 7B2_HUMAN secretogranin V isoform 1 187 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding 0 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) CAATCCATATCTACAAGGACA 0.373 NaN 0 0 0 0.00245 0 13 26 FAM98B 283742 broad.mit.edu 37 15 38766480 38766480 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:38766480G>C uc001zkb.1 + 6 745 c.710G>C c.(709-711)GGA>GCA p.G237A FAM98B_uc001zkc.2_Missense_Mutation_p.G237A NM_001042429 NP_001035894 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 237 tRNA-splicing ligase complex protein binding ovary(1) 1 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) CAGTCCTTTGGATGGTCTGAT 0.428 NaN 0 0 0 0.007413 0 18 188 C15orf23 90417 broad.mit.edu 37 15 40675092 40675092 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:40675092C>T uc001zll.2 + 1 171 c.56C>T c.(55-57)TCT>TTT p.S19F C15orf23_uc010ucp.1_Missense_Mutation_p.S19F|C15orf23_uc001zlo.2_Missense_Mutation_p.S19F|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 19 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) ACATGGCTGTCTACAGAGTGC 0.592 NaN 0 0 0 0.001168 0 6 44 NUSAP1 51203 broad.mit.edu 37 15 41648287 41648287 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:41648287G>T uc001zns.3 + 5 729 c.499G>T c.(499-501)GAT>TAT p.D167Y NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.D167Y|NUSAP1_uc010bce.2_Missense_Mutation_p.D167Y|NUSAP1_uc001znt.3_Missense_Mutation_p.D152Y|NUSAP1_uc001znv.3_Missense_Mutation_p.D166Y|NUSAP1_uc001znu.3_Missense_Mutation_p.D166Y|NUSAP1_uc010ucw.1_Missense_Mutation_p.D144Y|NUSAP1_uc001znw.3_5'UTR NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 167 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding 0 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) TCTCTACACAGATGAGTCATC 0.358 NaN 1 0 0.00198382 0.001984 0.00235119 5 20 MGA 23269 broad.mit.edu 37 15 42021428 42021428 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42021428C>T uc010ucy.1 + 11 3905 c.3724C>T c.(3724-3726)CGA>TGA p.R1242* MGA_uc010ucz.1_Nonsense_Mutation_p.R1242* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1242 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.R1242P(1) 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) TGCTCGAGTTCGAGTATATGA 0.413 NaN 0 0 0 0.001368 0 12 46 MGA 23269 broad.mit.edu 37 15 42028655 42028655 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42028655C>G uc010ucy.1 + 13 4374 c.4193C>G c.(4192-4194)TCT>TGT p.S1398C MGA_uc010ucz.1_Missense_Mutation_p.S1398C|MGA_uc010uda.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1398 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) GTGAAAATCTCTATGCCATCA 0.468 NaN 0 0 0 0.00499 0 17 56 MGA 23269 broad.mit.edu 37 15 42028795 42028795 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42028795C>T uc010ucy.1 + 13 4514 c.4333C>T c.(4333-4335)CAT>TAT p.H1445Y MGA_uc010ucz.1_Missense_Mutation_p.H1445Y|MGA_uc010uda.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1445 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) GGAGAGATTACATGGAGGCAA 0.493 NaN 0 0 0 0.001855 0 13 47 MGA 23269 broad.mit.edu 37 15 42042799 42042799 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42042799G>C uc010ucy.1 + 17 7175 c.6994G>C c.(6994-6996)GAT>CAT p.D2332H MGA_uc010ucz.1_Missense_Mutation_p.D2123H|MGA_uc010uda.1_Missense_Mutation_p.D948H|MGA_uc001zoi.2_Missense_Mutation_p.D546H NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2293 Basic motif. 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) TGAGGAGGTTGATGATGTAGA 0.348 NaN 0 0 0 0.001168 0 5 19 MAPKBP1 23005 broad.mit.edu 37 15 42092064 42092064 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42092064G>T uc001zok.3 + 3 444 c.158G>T c.(157-159)AGA>ATA p.R53I MAPKBP1_uc001zoj.3_Missense_Mutation_p.R53I|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.R53I|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 53 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCTGGAGGCAGAGGACTTGCC 0.498 NaN 1 0 4.79706e-38 0.00361 6.14024e-38 61 169 MAPKBP1 23005 broad.mit.edu 37 15 42092078 42092078 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42092078G>A uc001zok.3 + 3 458 c.172G>A c.(172-174)GAC>AAC p.D58N MAPKBP1_uc001zoj.3_Missense_Mutation_p.D58N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D58N|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 58 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACTTGCCTGTGACCCCCGATC 0.502 NaN 0 0 0 0.00361 0 57 162 GANC 2595 broad.mit.edu 37 15 42584941 42584941 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:42584941C>T uc001zpi.2 + 5 652 c.338C>T c.(337-339)TCA>TTA p.S113L GANC_uc001zph.2_Missense_Mutation_p.S113L|GANC_uc001zpj.1_5'UTR NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 113 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGGCTGATTTCATGCTCTGGG 0.413 NaN 0 0 0 0.005443 0 29 70 UBR1 197131 broad.mit.edu 37 15 43281096 43281096 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:43281096C>G uc001zqq.2 - 35 3984 c.3918G>C c.(3916-3918)TTG>TTC p.L1306F NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1306 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GTGGCACTTTCAATCCAATTC 0.373 NaN 0 0 0 0.003755 0 38 105 SQRDL 58472 broad.mit.edu 37 15 45965961 45965961 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:45965961C>T uc001zvt.2 + 6 805 c.616C>T c.(616-618)CAG>TAG p.Q206* SQRDL_uc001zvu.2_Nonsense_Mutation_p.Q206*|SQRDL_uc001zvv.2_Nonsense_Mutation_p.Q206* NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 206 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TGGAGCCCCTCAGAAGATCAT 0.478 NaN 0 0 0 0.003163 0 15 64 DMXL2 23312 broad.mit.edu 37 15 51772908 51772908 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772908C>G uc002abf.2 - 24 6620 c.6395G>C c.(6394-6396)AGA>ACA p.R2132T DMXL2_uc002abd.2_Missense_Mutation_p.R202T|DMXL2_uc010ufy.1_Missense_Mutation_p.R2132T|DMXL2_uc010bfa.2_Missense_Mutation_p.R1496T NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2132 Potential. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CTGCAATCTTCTTCTTTCTAT 0.423 NaN 0 0 0 0.002836 0 33 136 DMXL2 23312 broad.mit.edu 37 15 51772963 51772963 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772963C>T uc002abf.2 - 24 6565 c.6340G>A c.(6340-6342)GAA>AAA p.E2114K DMXL2_uc002abd.2_Missense_Mutation_p.E184K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2114K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1478K NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2114 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TCTACCATTTCTTCCTGATCC 0.398 NaN 0 0 0 0.004656 0 25 130 DMXL2 23312 broad.mit.edu 37 15 51772972 51772972 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51772972C>G uc002abf.2 - 24 6556 c.6331G>C c.(6331-6333)GAT>CAT p.D2111H DMXL2_uc002abd.2_Missense_Mutation_p.D181H|DMXL2_uc010ufy.1_Missense_Mutation_p.D2111H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1475H NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2111 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TCTTCCTGATCCAGCAGATCA 0.393 NaN 0 0 0 0.00333 0 22 125 DMXL2 23312 broad.mit.edu 37 15 51773374 51773374 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:51773374C>G uc002abf.2 - 24 6154 c.5929G>C c.(5929-5931)GAT>CAT p.D1977H DMXL2_uc002abd.2_Missense_Mutation_p.D47H|DMXL2_uc010ufy.1_Missense_Mutation_p.D1977H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1341H NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1977 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TCACCCCAATCAAGATTAAGA 0.408 NaN 0 0 0 0.00361 0 72 193 ONECUT1 3175 broad.mit.edu 37 15 53081206 53081206 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:53081206G>C uc002aci.1 - 1 1004 c.876C>G c.(874-876)ATC>ATG p.I292M NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 292 CUT. 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) CTTTGGTATTGATCTCTTCCA 0.627 NaN 0 0 0 0.003755 0 36 101 ALDH1A2 8854 broad.mit.edu 37 15 58285149 58285149 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:58285149G>A uc002aex.2 - 6 736 c.678C>T c.(676-678)ATC>ATT p.I226I ALDH1A2_uc002aey.2_Silent_p.I226I|ALDH1A2_uc010ugv.1_Silent_p.I205I|ALDH1A2_uc010ugw.1_Silent_p.I197I|ALDH1A2_uc002aew.2_Silent_p.I130I NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 226 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTACCTCCTTGATGAGGGCTC 0.473 NaN 0 0 0 0.00361 0 48 125 VPS13C 54832 broad.mit.edu 37 15 62283250 62283250 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:62283250G>T uc002agz.2 - 18 1601 c.1527C>A c.(1525-1527)TTC>TTA p.F509L VPS13C_uc002aha.2_Missense_Mutation_p.F466L|VPS13C_uc002ahb.1_Missense_Mutation_p.F509L|VPS13C_uc002ahc.1_Missense_Mutation_p.F466L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 509 protein localization ovary(2) 2 CAATGGCAGTGAAGAGTTTAT 0.299 NaN 1 0 2.32416e-17 0.002299 2.93836e-17 21 97 ANKDD1A 348094 broad.mit.edu 37 15 65239700 65239700 + Missense_Mutation SNP C C T rs145708523 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:65239700C>T uc002aoa.2 + 13 1267 c.1238C>T c.(1237-1239)TCT>TTT p.S413F ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.S290F NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 413 Death. signal transduction ovary(1) 1 CAGCTCCGTTCTGTGCTGTGG 0.592 NaN 0 0 0 0.000978 0 9 20 NOX5 79400 broad.mit.edu 37 15 69325600 69325600 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:69325600G>C uc002ars.1 + 5 858 c.838G>C c.(838-840)GAC>CAC p.D280H NOX5_uc002arp.1_Missense_Mutation_p.D262H|NOX5_uc002arq.1_Missense_Mutation_p.D234H|NOX5_uc010bid.1_Missense_Mutation_p.D245H|NOX5_uc002arr.1_Missense_Mutation_p.D252H|NOX5_uc010bie.1_Missense_Mutation_p.D80H|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 280 Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CCTCAACTTCGACTGCAGCTT 0.647 NaN 0 0 0 0.000978 0 10 40 LRRC49 54839 broad.mit.edu 37 15 71256227 71256227 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:71256227C>T uc002asw.2 + 9 1124 c.877C>T c.(877-879)CAG>TAG p.Q293* LRRC49_uc002asu.2_Nonsense_Mutation_p.Q283*|LRRC49_uc002asx.2_Nonsense_Mutation_p.Q249*|LRRC49_uc010ukf.1_Nonsense_Mutation_p.Q298*|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Nonsense_Mutation_p.Q265* NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 293 LRRCT. cytoplasm|microtubule ovary(1) 1 CACTGTCCTTCAGAATATGAT 0.463 NaN 0 0 0 0.00361 0 59 140 ISLR2 57611 broad.mit.edu 37 15 74427127 74427127 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:74427127G>C uc002axd.2 + 4 2801 c.2032G>C c.(2032-2034)GAT>CAT p.D678H ISLR2_uc002axe.2_Missense_Mutation_p.D678H|ISLR2_uc010bjg.2_Missense_Mutation_p.D678H|ISLR2_uc010bjf.2_Missense_Mutation_p.D678H NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 678 Cytoplasmic (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GGAGGGCCTTGATGAAGACGC 0.667 NaN OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.002299 0 23 52 CYP1A1 1543 broad.mit.edu 37 15 75014950 75014950 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:75014950C>T uc002ayp.3 - 2 611 c.489G>A c.(487-489)GTG>GTA p.V163V CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.V163V|CYP1A1_uc010bjy.2_Silent_p.V163V|CYP1A1_uc010bjz.1_Intron NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 163 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCTCCTTGCTCACATGCTCTT 0.582 NaN Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 0 0 0 0.002836 0 34 110 CSPG4 1464 broad.mit.edu 37 15 75977247 75977247 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:75977247C>T uc002baw.2 - 5 4372 c.4279G>A c.(4279-4281)GAG>AAG p.E1427K NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1427 CSPG 9.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ATCAGCTGCTCTTCCACCTAG 0.552 NaN 0 0 0 0.008871 0 18 62 FANCI 55215 broad.mit.edu 37 15 89835963 89835963 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:89835963G>C uc010bnp.1 + 21 2127 c.2037G>C c.(2035-2037)AAG>AAC p.K679N FANCI_uc002bnm.1_Missense_Mutation_p.K679N|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.K500N|FANCI_uc002bnq.1_Missense_Mutation_p.K92N NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 679 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) CCTGGTATAAGAATACAGTCA 0.289 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00632 0 29 58 FANCI 55215 broad.mit.edu 37 15 89836185 89836185 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:89836185G>C uc010bnp.1 + 22 2272 c.2182G>C c.(2182-2184)GAT>CAT p.D728H FANCI_uc002bnm.1_Missense_Mutation_p.D728H|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.D549H|FANCI_uc002bnq.1_Missense_Mutation_p.D141H NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 728 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TAAATCAGCAGATTTTTCTCA 0.328 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.007291 0 29 88 C15orf42 90381 broad.mit.edu 37 15 90168528 90168528 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90168528G>C uc002boe.2 + 20 4987 c.4987G>C c.(4987-4989)GAT>CAT p.D1663H C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1663 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ATTTCAAACAGATGGGGTTCC 0.592 NaN 0 0 0 0.006214 0 10 92 TTLL13 440307 broad.mit.edu 37 15 90799463 90799463 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90799463C>T uc002bpd.1 + 6 927 c.639C>T c.(637-639)TTC>TTT p.F213F TTLL13_uc002bpe.1_Intron NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 213 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) GTGGCATCTTCATTACCCGAA 0.537 NaN 0 0 0 0.001855 0 10 126 NGRN 51335 broad.mit.edu 37 15 90808999 90808999 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:90808999C>T uc002bpf.1 + 1 105 c.55C>T c.(55-57)CGC>TGC p.R19C TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR NM_001033088 NP_001028260 Q9NPE2 NGRN_HUMAN neugrin 19 neuron differentiation extracellular region|nucleus large_intestine(2)|ovary(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CGCCGTCACTCGCTGTGGGTT 0.692 NaN 0 0 0 0.00245 0 12 36 MAN2A2 4122 broad.mit.edu 37 15 91456191 91456191 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:91456191C>A uc010bnz.2 + 17 2669 c.2554C>A c.(2554-2556)CAC>AAC p.H852N MAN2A2_uc002bqc.2_Missense_Mutation_p.H852N|MAN2A2_uc010uql.1_Missense_Mutation_p.H514N|MAN2A2_uc010uqm.1_Missense_Mutation_p.H431N|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 852 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGAGCACATTCACCAGGCGGT 0.567 NaN 1 0 1.10923e-09 0.00278 1.36521e-09 23 65 LRRK1 79705 broad.mit.edu 37 15 101588736 101588736 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101588736G>A uc002bwr.2 + 22 3492 c.3173G>A c.(3172-3174)AGG>AAG p.R1058K LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1058 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCAGGAACAGGAAAGTCACC 0.448 NaN 0 0 0 0.004656 0 26 108 LRRK1 79705 broad.mit.edu 37 15 101601442 101601442 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101601442G>A uc002bwr.2 + 30 5065 c.4746G>A c.(4744-4746)ATG>ATA p.M1582I LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1582 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCCTGGGATGAAGGTGAGCT 0.612 NaN 0 0 0 0.00245 0 13 41 CHSY1 22856 broad.mit.edu 37 15 101718818 101718818 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:101718818C>T uc002bwt.1 - 4 1667 c.1184G>A c.(1183-1185)AGA>AAA p.R395K CHSY1_uc010usd.1_Missense_Mutation_p.R123K NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 395 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCCATTCCTCTTCGAGGGGG 0.542 NaN 0 0 0 0.004289 0 35 73 TARSL2 123283 broad.mit.edu 37 15 102255153 102255153 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr15:102255153C>G uc002bxm.2 - 4 635 c.580G>C c.(580-582)GAA>CAA p.E194Q TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 194 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCGTGCTTTCAGCCAGTTCC 0.403 NaN 0 0 0 0.001368 0 11 62 STUB1 10273 broad.mit.edu 37 16 731803 731803 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:731803G>C uc002cit.2 + 4 946 c.535G>C c.(535-537)GAG>CAG p.E179Q STUB1_uc002ciu.2_Missense_Mutation_p.E107Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 179 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) GGAGCTGGAAGAGTGCCAGCG 0.627 NaN 0 0 0 0.001882 0 21 55 HN1L 90861 broad.mit.edu 37 16 1741917 1741917 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:1741917G>A uc002cmg.2 + 3 303 c.267G>A c.(265-267)GGG>GGA p.G89G HN1L_uc010uvi.1_Silent_p.G117G|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Intron|HN1L_uc010uvj.1_Intron|HN1L_uc010uvk.1_Silent_p.G76G NM_144570 NP_653171 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 89 cytoplasm|nucleus upper_aerodigestive_tract(1) 1 CACCTGGAGGGAAGACCAGCG 0.542 NaN 0 0 0 0.007413 0 16 74 MAPK8IP3 23162 broad.mit.edu 37 16 1810466 1810466 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:1810466G>C uc002cmk.2 + 12 1507 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q MAPK8IP3_uc002cml.2_Missense_Mutation_p.E457Q|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E464Q NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 463 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GGGCGAGTTGGAGGCTGCTAA 0.537 NaN 0 0 0 0.005524 0 37 89 PDPK1 5170 broad.mit.edu 37 16 2647748 2647748 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:2647748C>G uc002cqs.2 + 14 1795 c.1651C>G c.(1651-1653)CCG>GCG p.P551A PDPK1_uc002cqt.2_Missense_Mutation_p.P424A|PDPK1_uc010bsn.2_3'UTR|PDPK1_uc002cqu.2_Missense_Mutation_p.P524A NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 551 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) CCAGAGCCACCCGGACGCCGC 0.662 NaN 0 0 0 0.00245 0 14 35 THOC6 79228 broad.mit.edu 37 16 3077242 3077242 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:3077242C>T uc002ctb.2 + 11 1067 c.771C>T c.(769-771)ATC>ATT p.I257I HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.I257I|THOC6_uc002ctc.2_Silent_p.I233I|THOC6_uc002cta.2_Silent_p.I233I NM_024339 NP_077315 Q86W42 THOC6_HUMAN WD repeat domain 58 isoform 1 257 WD 6. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding ovary(1)|central_nervous_system(1) 2 TCTTCCCCATCCGGGCGCCAC 0.637 NaN 0 0 0 0.004289 0 38 87 CREBBP 1387 broad.mit.edu 37 16 3777746 3777746 + Silent SNP C C T rs144609433 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:3777746C>T uc002cvv.2 - 31 7506 c.7302G>A c.(7300-7302)ACG>ACA p.T2434T CREBBP_uc002cvw.2_Silent_p.T2396T NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2434 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) ACTTCTCTAGCGTGTCCCCCG 0.552 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.00361 0 66 131 GSPT1 2935 broad.mit.edu 37 16 11980398 11980398 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:11980398G>A uc002dbr.2 - 7 796 c.769C>T c.(769-771)CAC>TAC p.H257Y GSPT1_uc002dbu.2_Missense_Mutation_p.H394Y|GSPT1_uc002dbt.2_Missense_Mutation_p.H395Y|GSPT1_uc010bux.2_Missense_Mutation_p.H257Y NM_001130007 NP_001123479 P15170 ERF3A_HUMAN G1 to S phase transition 1 isoform 3 257 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GGCATAAAGTGAATGTCCTTT 0.348 NaN 0 0 0 0.002299 0 24 64 NOMO1 23420 broad.mit.edu 37 16 14951394 14951394 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:14951394G>C uc002dcv.2 + 11 1168 c.1102G>C c.(1102-1104)GAG>CAG p.E368Q NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 368 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 ATTCCGCCTTGAGAACATAAC 0.428 NaN 0 0 0 0.006999 0 29 73 KIAA0430 9665 broad.mit.edu 37 16 15718772 15718772 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:15718772G>C uc002ddr.2 - 10 2317 c.2124C>G c.(2122-2124)CTC>CTG p.L708L KIAA0430_uc002ddq.2_Silent_p.L564L|KIAA0430_uc010uzv.1_Silent_p.L704L|KIAA0430_uc010uzw.1_Silent_p.L706L NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 707 peroxisome nucleotide binding|RNA binding 0 TTCGGGCACTGAGGTTCTCCT 0.408 NaN 0 0 0 0.002445 0 32 66 SMG1 23049 broad.mit.edu 37 16 18856931 18856931 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:18856931C>G uc002dfm.2 - 39 6402 c.6039G>C c.(6037-6039)TTG>TTC p.L2013F SMG1_uc010bwb.2_Missense_Mutation_p.L1873F|SMG1_uc010bwa.2_Missense_Mutation_p.L744F|SMG1_uc002dfo.3_Missense_Mutation_p.L311F NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2013 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGGGCTTCATCAAAGCTGTGT 0.388 NaN 0 0 0 0.003755 0 32 150 C16orf88 400506 broad.mit.edu 37 16 19726086 19726086 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:19726086C>G uc002dgq.2 - 2 287 c.272G>C c.(271-273)AGA>ACA p.R91T IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 91 Lys-rich. nucleolus 0 CTCTGTCCGTCTAGCAGGCAG 0.473 NaN 0 0 0 0.006122 0 17 92 DNAH3 55567 broad.mit.edu 37 16 21132097 21132097 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:21132097C>G uc010vbe.1 - 11 1663 c.1663G>C c.(1663-1665)GAG>CAG p.E555Q DNAH3_uc002die.2_Intron NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 555 Stem (By similarity). 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) ATGCTGGGCTCTCCTGGCTCA 0.507 NaN 0 0 0 0.004007 0 15 38 VWA3A 146177 broad.mit.edu 37 16 22157565 22157565 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:22157565G>C uc010vbq.1 + 27 2835 c.2739G>C c.(2737-2739)GTG>GTC p.V913V VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_5'UTR|VWA3A_uc010bxe.1_5'UTR NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 913 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) AGGGAGTGGTGAGACACATCC 0.532 NaN 0 0 0 0.008291 0 10 24 USP31 57478 broad.mit.edu 37 16 23096215 23096215 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:23096215G>A uc002dll.2 - 11 1796 c.1796C>T c.(1795-1797)TCC>TTC p.S599F USP31_uc010bxm.2_5'UTR NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 599 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) GAAACACTGGGATAAAGTGCA 0.488 NaN 0 0 0 0.00361 0 114 280 TNRC6A 27327 broad.mit.edu 37 16 24801938 24801938 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:24801938C>G uc002dmm.2 + 6 2089 c.1975C>G c.(1975-1977)CAA>GAA p.Q659E TNRC6A_uc010bxs.2_Missense_Mutation_p.Q406E|TNRC6A_uc010vcc.1_Missense_Mutation_p.Q406E|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q406E|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q406E NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 659 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GACAAATGAGCAAAGCAGTGT 0.468 NaN 0 0 0 0.006122 0 19 52 TNRC6A 27327 broad.mit.edu 37 16 24802034 24802034 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:24802034C>T uc002dmm.2 + 6 2185 c.2071C>T c.(2071-2073)CAG>TAG p.Q691* TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc010vcc.1_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q438* NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 691 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TGGGGAAAGTCAGAGTAGAGA 0.473 NaN 0 0 0 0.00278 0 23 55 SULT1A2 6799 broad.mit.edu 37 16 28603594 28603594 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:28603594G>A uc002dqg.1 - 7 1116 c.765C>T c.(763-765)TTC>TTT p.F255F uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.F255F NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 255 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 CTTTCCTCATGAAGGGGGAGA 0.602 NaN 0 0 0 0.00361 0 45 152 SRCAP 10847 broad.mit.edu 37 16 30723652 30723652 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:30723652C>G uc002dze.1 + 13 2270 c.1885C>G c.(1885-1887)CTG>GTG p.L629V SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L486V|SRCAP_uc010bzz.1_Missense_Mutation_p.L199V NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 629 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCTAGACTGGCTGGTTACCAT 0.522 NaN 0 0 0 0.001168 0 6 155 ZNF668 79759 broad.mit.edu 37 16 31075325 31075325 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:31075325G>A uc010caf.2 - 2 813 c.456C>T c.(454-456)CTC>CTT p.L152L ZNF668_uc002eao.2_Silent_p.L152L|ZNF668_uc010cag.1_Silent_p.L152L NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 152 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 TGAGCTTGGAGAGCGCGCCAT 0.672 NaN 0 0 0 0.001368 0 11 16 SLC5A2 6524 broad.mit.edu 37 16 31500575 31500575 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:31500575C>G uc002ecf.3 + 12 1600 c.1581C>G c.(1579-1581)CTC>CTG p.L527L SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 527 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TGCACTACCTCTACTTCGCCA 0.642 NaN 0 0 0 0.001855 0 13 43 ABCC11 85320 broad.mit.edu 37 16 48237196 48237196 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48237196G>C uc002eff.1 - 13 2171 c.1821C>G c.(1819-1821)CTC>CTG p.L607L ABCC11_uc002efg.1_Silent_p.L607L|ABCC11_uc002efh.1_Silent_p.L607L|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 607 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCAGCAGTGGAGCACCTGGA 0.582 NaN Cerumen_Type 0 0 0 0.006214 0 8 10 LONP2 83752 broad.mit.edu 37 16 48329968 48329968 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48329968C>T uc002efi.1 + 9 1515 c.1426C>T c.(1426-1428)CTA>TTA p.L476L LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L432L NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 476 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 AGATCATTATCTAAATGTGGC 0.393 NaN 0 0 0 0.00361 0 61 167 N4BP1 9683 broad.mit.edu 37 16 48595368 48595368 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:48595368C>G uc002efp.2 - 2 1423 c.1186G>C c.(1186-1188)GAA>CAA p.E396Q NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 396 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) GCTGAAAATTCTCTGTCTTCT 0.348 NaN 0 0 0 0.002299 0 23 47 CHD9 80205 broad.mit.edu 37 16 53338321 53338321 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53338321G>C uc002ehb.2 + 30 6567 c.6403G>C c.(6403-6405)GAC>CAC p.D2135H CHD9_uc002egy.2_Missense_Mutation_p.D2135H|CHD9_uc002ehc.2_Missense_Mutation_p.D2135H|CHD9_uc002ehf.2_Missense_Mutation_p.D1249H|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.D141H NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2135 Ser-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTCTGATTCTGACTCAGATTC 0.438 NaN 0 0 0 0.001984 0 6 20 CHD9 80205 broad.mit.edu 37 16 53352139 53352139 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53352139G>A uc002ehb.2 + 36 7764 c.7600G>A c.(7600-7602)GAG>AAG p.E2534K CHD9_uc002egy.2_Missense_Mutation_p.E2518K|CHD9_uc002ehc.2_Missense_Mutation_p.E2519K|CHD9_uc002ehf.2_Missense_Mutation_p.E1632K|CHD9_uc010cbw.2_Missense_Mutation_p.E600K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2534 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GCAGCTTCATGAGGGAAGACC 0.338 NaN 0 0 0 0.001368 0 12 33 RBL2 5934 broad.mit.edu 37 16 53498194 53498194 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:53498194C>G uc002ehi.3 + 12 1735 c.1617C>G c.(1615-1617)GTC>GTG p.V539V RBL2_uc010vgv.1_Silent_p.V465V|RBL2_uc002ehj.2_Silent_p.V249V|RBL2_uc010vgw.1_Silent_p.V323V NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 539 Domain A.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCCTTGAGGTCGTCACTTTTT 0.323 NaN 0 0 0 0.004672 0 3 54 IRX5 10265 broad.mit.edu 37 16 54967645 54967645 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:54967645C>T uc002ehv.2 + 3 1312 c.1312C>T c.(1312-1314)CAT>TAT p.H438Y IRX5_uc002ehw.2_Missense_Mutation_p.H372Y NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 438 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 TCCGGGGTCTCATTTCAATGG 0.592 NaN 0 0 0 0.008361 0 31 88 CCDC135 84229 broad.mit.edu 37 16 57732921 57732921 + Silent SNP C C T rs116591936 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:57732921C>T uc002emi.2 + 3 452 c.363C>T c.(361-363)AAC>AAT p.N121N CCDC135_uc002emj.2_Silent_p.N121N|CCDC135_uc002emk.2_Silent_p.N121N NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 121 cytoplasm central_nervous_system(1) 1 ACCCCCTGAACGAGTGTGAAG 0.647 NaN 0 0 0 0.001786 0 29 219 CNGB1 1258 broad.mit.edu 37 16 57957231 57957231 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:57957231G>C uc002emt.2 - 18 1654 c.1589C>G c.(1588-1590)CCA>CGA p.P530R CNGB1_uc010cdh.2_Missense_Mutation_p.P524R NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 530 Cytoplasmic (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 GGACTCTGCTGGTGACAACGC 0.582 NaN 0 0 0 0.001984 0 6 83 PRSS54 221191 broad.mit.edu 37 16 58319877 58319877 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:58319877C>T uc002enf.2 - 5 881 c.486G>A c.(484-486)CAG>CAA p.Q162Q PRSS54_uc002eng.2_Silent_p.Q162Q|PRSS54_uc010vie.1_Silent_p.Q63Q NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 162 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCCAGCAGTTCTGCAAGACTG 0.547 NaN 0 0 0 0.005443 0 28 77 CNOT1 23019 broad.mit.edu 37 16 58621270 58621270 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:58621270G>C uc002env.2 - 5 650 c.357C>G c.(355-357)CTC>CTG p.L119L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L119L|CNOT1_uc002enx.2_Silent_p.L119L|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 119 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGCTTAATTTGAGCACTTTAC 0.323 NaN 0 0 0 0.006122 0 15 118 CDH5 1003 broad.mit.edu 37 16 66426236 66426236 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:66426236G>C uc002eom.3 + 7 1323 c.1167G>C c.(1165-1167)CTG>CTC p.L389L CDH5_uc002eon.1_Silent_p.L389L NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 389 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGAAGCCTCTGATTGGCACAG 0.537 NaN 0 0 0 0.006999 0 41 120 GFOD2 81577 broad.mit.edu 37 16 67709505 67709505 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:67709505C>T uc002eub.2 - 3 1006 c.711G>A c.(709-711)GTG>GTA p.V237V GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.V132V NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 237 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) AGTTGAGTGTCACTGTGCTAC 0.587 NaN 0 0 0 0.001523 0 22 60 EDC4 23644 broad.mit.edu 37 16 67918030 67918030 + Silent SNP C C T rs142793660 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:67918030C>T uc002eur.2 + 29 4351 c.4185C>T c.(4183-4185)CTC>CTT p.L1395L EDC4_uc010cer.2_Silent_p.L1014L|EDC4_uc002eus.2_Silent_p.L1125L|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1395 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TGCATGGCCTCGTGACCCCCA 0.627 NaN OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000978 0 11 20 PLA2G15 23659 broad.mit.edu 37 16 68293167 68293167 + Silent SNP C C T rs142263893 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:68293167C>T uc002evr.2 + 6 929 c.846C>T c.(844-846)TTC>TTT p.F282F PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.F188F|PLA2G15_uc010vlf.1_Silent_p.F82F|PLA2G15_uc002evs.2_Silent_p.F103F NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 282 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 AGAAGGTGTTCGTGCAGACAC 0.577 NaN 0 0 0 0.001523 0 21 64 SF3B3 23450 broad.mit.edu 37 16 70589022 70589022 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:70589022G>C uc002ezf.2 + 13 1834 c.1623G>C c.(1621-1623)AAG>AAC p.K541N NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 541 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CCCCTGGAAAGAAAACAATTG 0.453 NaN 0 0 0 0.003214 0 46 93 HYDIN 54768 broad.mit.edu 37 16 70843806 70843806 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:70843806C>T uc002ezr.2 - 85 14888 c.14760G>A c.(14758-14760)CTG>CTA p.L4920L HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4921 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GCGTGGCTTTCAGATAGAGCT 0.468 NaN 0 0 0 0.00361 0 196 479 CHST4 10164 broad.mit.edu 37 16 71571634 71571634 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:71571634G>A uc002fan.2 + 2 1235 c.1054G>A c.(1054-1056)GAT>AAT p.D352N CHST4_uc002fao.2_Missense_Mutation_p.D352N NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 352 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 AGCCTGTGGCGATGCCATGAA 0.512 NaN OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 14 77 PMFBP1 83449 broad.mit.edu 37 16 72156877 72156877 + Missense_Mutation SNP C C T rs145484256 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:72156877C>T uc002fcc.3 - 19 2891 c.2719G>A c.(2719-2721)GAG>AAG p.E907K PMFBP1_uc002fcd.2_Missense_Mutation_p.E902K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E757K NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 907 ovary(2) 2 Ovarian(137;0.179) CCTAGTTTCTCATTGGCGACC 0.532 NaN 0 0 0 0.004656 0 25 80 MLKL 197259 broad.mit.edu 37 16 74706420 74706420 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:74706420G>C uc002fdb.2 - 11 1839 c.1398C>G c.(1396-1398)CTC>CTG p.L466L MLKL_uc002fdc.2_Silent_p.L258L NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 466 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 AAAAGGTGGAGAGTTTCTTTA 0.408 NaN 0 0 0 0.00361 0 53 160 WDR59 79726 broad.mit.edu 37 16 74920244 74920244 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:74920244C>A uc002fdh.1 - 24 2572 c.2470G>T c.(2470-2472)GAA>TAA p.E824* WDR59_uc002fdf.1_Nonsense_Mutation_p.E269*|WDR59_uc002fdg.1_Nonsense_Mutation_p.E416* NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 824 ovary(1)|breast(1) 2 CGGAGCTCTTCTGGTGAGGAT 0.527 NaN 1 0 6.53348e-20 0.003755 8.28917e-20 35 86 VAT1L 57687 broad.mit.edu 37 16 77822778 77822778 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:77822778C>G uc002ffg.1 + 1 296 c.199C>G c.(199-201)CAG>GAG p.Q67E NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 67 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 GCCCGAGCCTCAGGACGGCGA 0.672 NaN 0 0 0 0.001984 0 6 13 PLCG2 5336 broad.mit.edu 37 16 81960752 81960752 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:81960752C>G uc002fgt.2 + 23 2635 c.2483C>G c.(2482-2484)TCA>TGA p.S828* NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 828 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 GAGGACATCTCAACTGCAGAC 0.527 NaN 0 0 0 0.00361 0 59 144 MPHOSPH6 10200 broad.mit.edu 37 16 82197748 82197748 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:82197748C>T uc002fgw.2 - 2 152 c.103G>A c.(103-105)GAA>AAA p.E35K NM_005792 NP_005783 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 35 Poly-Glu. M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding 0 ATTTTCTTTTCTTCTTCTTCT 0.353 NaN 0 0 0 0.00278 0 22 58 KIAA0513 9764 broad.mit.edu 37 16 85120761 85120761 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:85120761A>G uc002fiu.2 + 12 1395 c.1175A>G c.(1174-1176)AAC>AGC p.N392S KIAA0513_uc010voj.1_Missense_Mutation_p.N382S NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 392 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) GTGATTGGCAACCTGGATGAA 0.602 NaN OREG0023994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 14 51 IL17C 27189 broad.mit.edu 37 16 88706324 88706324 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:88706324C>G uc002fla.2 + 3 487 c.438C>G c.(436-438)CTC>CTG p.L146L NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 146 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) CAGCTGCGCTCAACTCCGTGC 0.687 NaN 0 0 0 0.000978 0 12 25 IL17C 27189 broad.mit.edu 37 16 88706361 88706361 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:88706361C>T uc002fla.2 + 3 524 c.475C>T c.(475-477)CGC>TGC p.R159C NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 159 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) GCTGGTGCTGCGCCGCCGGCC 0.701 NaN 0 0 0 0.00499 0 17 38 SPG7 6687 broad.mit.edu 37 16 89611106 89611106 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:89611106G>T uc002fnj.2 + 10 1396 c.1375G>T c.(1375-1377)GAC>TAC p.D459Y SPG7_uc002fnk.1_RNA NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 459 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GAACCGAGCTGACATTTTGGA 0.602 NaN 1 0 9.39024e-22 0.002222 1.19346e-21 44 87 SPIRE2 84501 broad.mit.edu 37 16 89929889 89929889 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr16:89929889C>T uc002foz.1 + 11 1633 c.1581C>T c.(1579-1581)TTC>TTT p.F527F SPIRE2_uc010ciw.1_Silent_p.F527F|SPIRE2_uc002fpa.1_Silent_p.F479F|SPIRE2_uc010cix.1_Silent_p.F394F NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 527 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCTAGGAGTTCAGCCACCCCG 0.597 NaN 0 0 0 0.001368 0 12 36 SMG6 23293 broad.mit.edu 37 17 2202598 2202598 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:2202598G>A uc002fub.1 - 2 1504 c.1449C>T c.(1447-1449)GTC>GTT p.V483V SMG6_uc002fud.1_Silent_p.V452V NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 483 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 ATGTAGGGCTGACTTCATCAT 0.512 NaN 0 0 0 0.00361 0 102 157 OR1G1 8390 broad.mit.edu 37 17 3030061 3030061 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:3030061G>C uc002fvc.1 - 1 785 c.785C>G c.(784-786)TCT>TGT p.S262C NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTTGAGGGAGAACTGAAATC 0.483 NaN 0 0 0 0.007413 0 19 35 CAMKK1 84254 broad.mit.edu 37 17 3779565 3779565 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:3779565G>A uc002fwt.2 - 10 1042 c.948C>T c.(946-948)TTC>TTT p.F316F CAMKK1_uc002fwu.2_Silent_p.F316F|CAMKK1_uc002fwv.2_Silent_p.F354F NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 316 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CGGGGGCCATGAATGCTGGGG 0.627 NaN 0 0 0 0.001882 0 21 37 MYBBP1A 10514 broad.mit.edu 37 17 4451467 4451467 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:4451467G>A uc002fyb.3 - 12 1757 c.1695C>T c.(1693-1695)TTC>TTT p.F565F MYBBP1A_uc002fxz.3_Silent_p.F565F NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 565 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 GCTGCGCAGTGAAGGGTGTCA 0.662 NaN 0 0 0 0.002299 0 22 34 EIF4A1 1973 broad.mit.edu 37 17 7480991 7480991 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7480991G>T uc002gho.1 + 16 2198 c.873G>T c.(871-873)AAG>AAT p.K291N EIF4A1_uc002ghr.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghq.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghp.1_Missense_Mutation_p.K291N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 291 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 TCACCGAGAAGATGCATGCTC 0.547 NaN 1 0 2.98393e-07 0.00278 3.61689e-07 23 107 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7577099C>G uc002gim.2 - 8 1033 c.839G>C c.(838-840)AGA>ACA p.R280T TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(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) GCGCCGGTCTCTCCCAGGACA 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.000978 0 12 20 CYB5D1 124637 broad.mit.edu 37 17 7761959 7761959 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:7761959G>A uc002gjb.3 + 3 662 c.273G>A c.(271-273)CTG>CTA p.L91L LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.L91L NM_144607 NP_653208 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 91 Cytochrome b5 heme-binding. heme binding skin(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) CCGGCTGCCTGAGGTACTGCA 0.627 NaN OREG0024147 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 54 77 PIK3R5 23533 broad.mit.edu 37 17 8794166 8794166 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:8794166C>G uc002glt.2 - 7 613 c.546G>C c.(544-546)CTG>CTC p.L182L PIK3R5_uc010vuz.1_Silent_p.L182L|PIK3R5_uc002glu.3_Intron|PIK3R5_uc010coa.1_Silent_p.L182L|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 182 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CGGGCGTACTCAGCTTATTGG 0.647 NaN 0 0 0 0.004482 0 9 29 MYH3 4621 broad.mit.edu 37 17 10543550 10543550 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:10543550G>C uc002gmq.1 - 21 2522 c.2445C>G c.(2443-2445)ATC>ATG p.I815M NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 815 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TGTTGTACTGGATGCAGAAGA 0.478 NaN 0 0 0 0.006122 0 18 42 ZNF624 57547 broad.mit.edu 37 17 16525625 16525625 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:16525625G>C uc010cpi.1 - 6 2658 c.2575C>G c.(2575-2577)CAA>GAA p.Q859E NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 859 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GTTTCTCTTTGATGTATTCTT 0.323 NaN 0 0 0 0.00278 0 21 69 CCDC144A 9720 broad.mit.edu 37 17 16612919 16612919 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:16612919G>C uc002gqk.1 + 5 1624 c.1548G>C c.(1546-1548)TTG>TTC p.L516F CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 516 Potential. 0 TCCTGGCTTTGAAGAAAGAAG 0.353 NaN 0 0 0 0.00361 0 61 104 SREBF1 6720 broad.mit.edu 37 17 17716007 17716007 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:17716007G>C uc002gru.1 - 19 3567 c.3373C>G c.(3373-3375)CGC>GGC p.R1125G SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R744G|SREBF1_uc002grq.1_Missense_Mutation_p.R644G|SREBF1_uc002grr.1_Missense_Mutation_p.R871G|SREBF1_uc002grs.1_Missense_Mutation_p.R1101G|SREBF1_uc002grt.1_Missense_Mutation_p.R1155G NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 1125 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 AGCAGCCGGCGATCGCCAAGC 0.706 NaN 0 0 0 0.004672 0 3 12 ALDH3A1 218 broad.mit.edu 37 17 19642974 19642974 + Silent SNP G G A rs151020632 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:19642974G>A uc010cqu.2 - 7 1293 c.963C>T c.(961-963)CTC>CTT p.L321L ALDH3A1_uc010vzd.1_Silent_p.L321L|ALDH3A1_uc002gwj.2_Silent_p.L321L|ALDH3A1_uc010cqv.2_Silent_p.L320L|ALDH3A1_uc002gwk.2_Silent_p.L438L|ALDH3A1_uc002gwl.1_Silent_p.L248L NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 321 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CCACGTCCGTGAGGATGGTGG 0.642 NaN 0 0 0 0.004007 0 14 47 TMEM11 8834 broad.mit.edu 37 17 21102080 21102080 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:21102080C>G uc002gyp.2 - 2 579 c.136G>C c.(136-138)GAG>CAG p.E46Q TMEM11_uc002gyq.2_3'UTR NM_003876 NP_003867 P17152 TMM11_HUMAN transmembrane protein 11 46 mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding 0 AGCTCGTACTCAAACTGGTCT 0.557 NaN 0 0 0 0.00245 0 14 45 DHRS13 147015 broad.mit.edu 37 17 27228278 27228278 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:27228278G>A uc002hde.3 - 4 539 c.412C>T c.(412-414)CTG>TTG p.L138L DHRS13_uc002hdd.3_Silent_p.L88L|DHRS13_uc010wba.1_Silent_p.L57L NM_144683 NP_653284 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 138 extracellular region binding|oxidoreductase activity 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) ACCCGAAGCAGCAGGTTAAAC 0.602 NaN 0 0 0 0.000978 0 11 141 TAOK1 57551 broad.mit.edu 37 17 27861196 27861196 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:27861196G>A uc002hdz.1 + 19 2616 c.2422G>A c.(2422-2424)GAA>AAA p.E808K TAOK1_uc010wbe.1_Missense_Mutation_p.E660K|TAOK1_uc010wbf.1_Missense_Mutation_p.E808K NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 808 Potential. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GCTGCAGCAGGAACTGGAGCT 0.488 NaN 0 0 0 0.00361 0 58 43 EFCAB5 374786 broad.mit.edu 37 17 28380455 28380455 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:28380455G>A uc002het.2 + 10 1675 c.1483G>A c.(1483-1485)GAA>AAA p.E495K EFCAB5_uc010wbi.1_Missense_Mutation_p.E238K|EFCAB5_uc010wbj.1_Missense_Mutation_p.E439K|EFCAB5_uc010wbk.1_Missense_Mutation_p.E152K|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E374K|EFCAB5_uc010csf.2_Missense_Mutation_p.E374K NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 495 calcium ion binding ovary(1)|skin(1) 2 TAAACTTAACGAACAGAGAAC 0.388 NaN 0 0 0 0.002836 0 33 216 NF1 4763 broad.mit.edu 37 17 29552264 29552264 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:29552264C>G uc002hgg.2 + 17 2330 c.1997C>G c.(1996-1998)TCT>TGT p.S666C NF1_uc002hgh.2_Missense_Mutation_p.S666C|NF1_uc010csn.1_Missense_Mutation_p.S526C|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 666 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) GGGAACTCCTCTATGGTCAGC 0.373 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 0.007413 0 16 111 RHOT1 55288 broad.mit.edu 37 17 30519316 30519316 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:30519316C>G uc002hgz.2 + 9 876 c.637C>G c.(637-639)CAG>GAG p.Q213E RHOT1_uc002hgw.2_Missense_Mutation_p.Q213E|RHOT1_uc002hgy.2_Missense_Mutation_p.Q213E|RHOT1_uc002hha.2_Missense_Mutation_p.Q86E|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.Q86E|RHOT1_uc010wby.1_Missense_Mutation_p.Q213E|RHOT1_uc002hhb.2_Missense_Mutation_p.Q192E|RHOT1_uc002hgv.2_Missense_Mutation_p.Q213E NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 213 EF-hand 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CAACTTCTTTCAGGTAATGGT 0.303 NaN 0 0 0 0.001368 0 13 59 PEX12 5193 broad.mit.edu 37 17 33903113 33903113 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:33903113G>C uc002hjp.2 - 3 1384 c.768C>G c.(766-768)TTC>TTG p.F256L NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 256 Helical; (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACTGCAAGAAGAATACACCCA 0.468 NaN 0 0 0 0.007835 0 43 73 AP2B1 163 broad.mit.edu 37 17 34036247 34036247 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34036247C>T uc002hjr.2 + 18 2606 c.2417C>T c.(2416-2418)GCT>GTT p.A806V AP2B1_uc002hjq.2_Missense_Mutation_p.A820V|AP2B1_uc010wci.1_Missense_Mutation_p.A782V|AP2B1_uc002hjs.2_Missense_Mutation_p.A749V|AP2B1_uc002hjt.2_Missense_Mutation_p.A820V|AP2B1_uc010ctv.2_Missense_Mutation_p.A820V|AP2B1_uc010wcj.1_Missense_Mutation_p.A557V NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 806 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGGCAGGTGGCTGTGAAAAAC 0.473 NaN 0 0 0 0.000978 0 12 67 GAS2L2 246176 broad.mit.edu 37 17 34073061 34073061 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34073061G>A uc002hjv.1 - 6 1483 c.1455C>T c.(1453-1455)TTC>TTT p.F485F NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 485 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTCCCTGAACTGGAAGA 0.642 NaN 0 0 0 0.00361 0 49 87 GAS2L2 246176 broad.mit.edu 37 17 34076186 34076186 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:34076186G>C uc002hjv.1 - 3 706 c.678C>G c.(676-678)GTC>GTG p.V226V NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 226 GAR. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAGACACTTTGACCATGGAGA 0.592 NaN 0 0 0 0.000602 0 5 29 ACACA 31 broad.mit.edu 37 17 35631157 35631157 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:35631157G>C uc002hnm.2 - 9 1015 c.824C>G c.(823-825)TCA>TGA p.S275* ACACA_uc002hnk.2_Nonsense_Mutation_p.S197*|ACACA_uc002hnl.2_Nonsense_Mutation_p.S217*|ACACA_uc002hnn.2_Nonsense_Mutation_p.S275*|ACACA_uc002hno.2_Nonsense_Mutation_p.S312*|ACACA_uc010cuz.2_Nonsense_Mutation_p.S275*|ACACA_uc002hnq.2_Nonsense_Mutation_p.S197* NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 275 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GATACGTTTTGAAAAATCATT 0.413 NaN 0 0 0 0.008871 0 17 61 SRCIN1 80725 broad.mit.edu 37 17 36715882 36715882 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:36715882C>T uc002hqd.2 - 10 2189 c.1964G>A c.(1963-1965)CGA>CAA p.R655Q SRCIN1_uc002hqf.1_Missense_Mutation_p.R527Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.R509Q|SRCIN1_uc002hqg.2_5'Flank NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 527 Potential.|Interaction with SNAP25 (By similarity). exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CTGCAGGCCTCGCAGGTGAAG 0.736 NaN 0 0 0 0.004482 0 8 25 TOP2A 7153 broad.mit.edu 37 17 38551779 38551779 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38551779C>T uc002huq.2 - 29 3859 c.3733G>A c.(3733-3735)GAA>AAA p.E1245K NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1245 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GGGCTTCCTTCAGTATTTTCA 0.289 NaN 0 0 0 0.004482 0 7 45 CCR7 1236 broad.mit.edu 37 17 38711414 38711414 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38711414C>T uc002huw.2 - 3 780 c.717G>A c.(715-717)ATG>ATA p.M239I NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 239 Helical; Name=5; (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) AACAGAAGCTCATGGCCAGCA 0.557 NaN 0 0 0 0.008291 0 11 47 KRT10 3858 broad.mit.edu 37 17 38978738 38978738 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:38978738G>A uc002hvi.2 - 1 126 c.100C>T c.(100-102)CTA>TTA p.L34L KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 34 Head.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) GAAATTCTTAGGGATGACAct 0.423 NaN 0 0 0 0.00499 0 18 48 KRT12 3859 broad.mit.edu 37 17 39022938 39022938 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39022938C>T uc002hvk.2 - 1 525 c.501G>A c.(499-501)GGG>GGA p.G167G NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 167 Rod.|Linker 1. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CATCTGCAGTCCCAGTTCCTC 0.413 NaN 0 0 0 0.003214 0 46 146 KRTAP4-7 100132476 broad.mit.edu 37 17 39240819 39240819 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39240819C>G uc010wfn.1 + 1 361 c.361C>G c.(361-363)CTG>GTG p.L121V NM_033061 NP_149050 keratin associated protein 4-7 0 ctgctgctgcCTGCGTCCAGT 0.313 NaN 0 0 0 0.000248 0 3 3 KRT37 8688 broad.mit.edu 37 17 39580734 39580734 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39580734G>A uc002hwp.1 - 1 89 c.42C>T c.(40-42)TGC>TGT p.C14C uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 14 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GAGCCATGGTGCAACCCAGAG 0.577 NaN 0 0 0 0.002445 0 30 101 KRT37 8688 broad.mit.edu 37 17 39580750 39580750 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:39580750G>A uc002hwp.1 - 1 73 c.26C>T c.(25-27)TCA>TTA p.S9L uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 9 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CAGAGGGCATGAGGAGGTGCT 0.577 NaN 0 0 0 0.002096 0 28 94 ACLY 47 broad.mit.edu 37 17 40025364 40025364 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40025364G>C uc002hyg.2 - 27 3229 c.3066C>G c.(3064-3066)ATC>ATG p.I1022M ACLY_uc002hyh.2_Missense_Mutation_p.I1012M|ACLY_uc002hyi.2_Missense_Mutation_p.I1076M|ACLY_uc010wfx.1_Missense_Mutation_p.I1066M|ACLY_uc010wfy.1_Missense_Mutation_p.I751M NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 1022 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) CTACATTCAGGATAAGATTTG 0.363 NaN 0 0 0 0.00245 0 13 294 TTC25 83538 broad.mit.edu 37 17 40095357 40095357 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40095357G>C uc002hyj.3 + 7 1079 c.990G>C c.(988-990)CAG>CAC p.Q330H TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 330 TPR 5. cytoplasm protein binding p.Q330Q(1) ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) GGAATGCCCAGATTGAGCTGG 0.537 NaN 0 0 0 0.004482 0 9 35 PLEKHH3 79990 broad.mit.edu 37 17 40820225 40820225 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:40820225C>A uc002iau.2 - 13 2769 c.2302G>T c.(2302-2304)GAC>TAC p.D768Y PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.D129Y|PLEKHH3_uc002iaw.2_3'UTR NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 768 signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GGGGAGGTGTCTGGCAGGTCT 0.647 NaN 1 0 1.10923e-09 0.00278 1.36521e-09 22 41 MPP3 4356 broad.mit.edu 37 17 41879119 41879119 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:41879119C>G uc002iei.3 - 20 1874 c.1708G>C c.(1708-1710)GAG>CAG p.E570Q MPP3_uc002ieh.2_Missense_Mutation_p.E595Q|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 570 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CTCAGCTTCTCTAAGACCACT 0.423 NaN 0 0 0 0.00361 0 46 99 GFAP 2670 broad.mit.edu 37 17 42987985 42987985 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:42987985C>G uc002ihq.2 - 7 1229 c.1169G>C c.(1168-1170)CGA>CCA p.R390P GFAP_uc002ihr.2_Missense_Mutation_p.R390P NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 390 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GTACTGACCTCGAATCTGCAG 0.622 NaN 0 0 0 0.000248 0 4 3 C1QL1 10882 broad.mit.edu 37 17 43037561 43037561 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:43037561C>A uc002ihv.2 - 2 1000 c.772G>T c.(772-774)GAC>TAC p.D258Y NM_006688 NP_006679 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 258 C1q. locomotory behavior collagen 0 Prostate(33;0.155) GGAGCTCAGTCGGAGTAGATG 0.657 NaN 1 0 9.39024e-22 0.002222 1.19346e-21 44 122 MAPT 4137 broad.mit.edu 37 17 44061213 44061213 + Missense_Mutation SNP A A T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44061213A>T uc002ijr.3 + 6 1363 c.1043A>T c.(1042-1044)GAG>GTG p.E348V MAPT_uc010dau.2_Missense_Mutation_p.E348V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 348 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) GACACAAAAGAGGCTGACCTT 0.637 NaN 0 0 0 0.005443 0 27 98 STH 246744 broad.mit.edu 37 17 44076776 44076776 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44076776G>C uc002ijy.2 + 1 161 c.131G>C c.(130-132)AGA>ACA p.R44T MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_001007532 NP_001007533 Q8IWL8 STH_HUMAN saitohin 44 cytoplasm|nucleus 0 CAGGTTGCCAGAGACAGAACC 0.388 NaN 0 0 0 0.001368 0 12 48 KIAA1267 284058 broad.mit.edu 37 17 44144094 44144094 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:44144094G>A uc002ikb.2 - 5 1742 c.1657C>T c.(1657-1659)CAG>TAG p.Q553* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.Q553* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 553 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) AAGACAGGCTGAAGACTATAC 0.338 NaN 0 0 0 0.001368 0 12 35 PNPO 55163 broad.mit.edu 37 17 46023278 46023278 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:46023278T>C uc002imo.2 + 5 622 c.469T>C c.(469-471)TAC>CAC p.Y157H PNPO_uc010wkz.1_Missense_Mutation_p.Y139H|PNPO_uc010wla.1_Missense_Mutation_p.Y62H|PNPO_uc010wlb.1_Intron NM_018129 NP_060599 Q9NVS9 PNPO_HUMAN pyridoxine 5'-phosphate oxidase 157 Substrate. pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity 0 Pyridoxal Phosphate(DB00114) GGCTGAGTGCTACTTCCACTC 0.597 NaN 0 0 0 0.006122 0 19 42 CACNA1G 8913 broad.mit.edu 37 17 48669297 48669297 + Splice_Site SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:48669297G>T uc002irk.1 + 13 3127 c.2755_splice c.e13-1 p.I919_splice CACNA1G_uc002iri.1_Splice_Site_p.I919_splice|CACNA1G_uc002irj.1_Splice_Site_p.I919_splice|CACNA1G_uc002irl.1_Splice_Site_p.I919_splice|CACNA1G_uc002irm.1_Splice_Site_p.I919_splice|CACNA1G_uc002irn.1_Splice_Site_p.I919_splice|CACNA1G_uc002iro.1_Splice_Site_p.I919_splice|CACNA1G_uc002irp.1_Splice_Site_p.I919_splice|CACNA1G_uc002irq.1_Splice_Site_p.I919_splice|CACNA1G_uc002irr.1_Splice_Site_p.I919_splice|CACNA1G_uc002irs.1_Splice_Site_p.I919_splice|CACNA1G_uc002irt.1_Splice_Site_p.I919_splice|CACNA1G_uc002irv.1_Splice_Site_p.I919_splice|CACNA1G_uc002irw.1_Splice_Site_p.I919_splice|CACNA1G_uc002iru.1_Splice_Site_p.I919_splice|CACNA1G_uc002irx.1_Splice_Site_p.I832_splice|CACNA1G_uc002iry.1_Splice_Site_p.I832_splice|CACNA1G_uc002irz.1_Splice_Site_p.I832_splice|CACNA1G_uc002isa.1_Splice_Site_p.I832_splice|CACNA1G_uc002isb.1_Splice_Site_p.I832_splice|CACNA1G_uc002isc.1_Splice_Site_p.I832_splice|CACNA1G_uc002isd.1_Splice_Site_p.I832_splice|CACNA1G_uc002ise.1_Splice_Site_p.I832_splice|CACNA1G_uc002isf.1_Splice_Site_p.I832_splice|CACNA1G_uc002isg.1_Splice_Site_p.I832_splice|CACNA1G_uc002ish.1_Splice_Site_p.I832_splice|CACNA1G_uc002isi.1_Splice_Site_p.I832_splice NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCTGCCCGCAGATCCTGACCC 0.582 NaN 1 0 6.31663e-08 0.003163 7.68238e-08 15 12 CACNA1G 8913 broad.mit.edu 37 17 48678510 48678510 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:48678510G>A uc002irk.1 + 19 4262 c.3890G>A c.(3889-3891)CGC>CAC p.R1297H CACNA1G_uc002iri.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irj.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irl.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irm.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irn.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iro.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irp.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irq.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irr.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irs.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irt.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irv.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irw.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iru.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irx.1_Missense_Mutation_p.R1210H|CACNA1G_uc002iry.1_Missense_Mutation_p.R1210H|CACNA1G_uc002irz.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isa.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isb.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isc.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isd.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ise.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isf.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isg.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ish.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isi.1_Missense_Mutation_p.R1187H|CACNA1G_uc002isj.2_Missense_Mutation_p.R21H NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1297 Extracellular (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCCATGGAGCGCCCCAAAATT 0.592 NaN 0 0 0 0.007291 0 31 35 C17orf67 339210 broad.mit.edu 37 17 54893199 54893199 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:54893199G>A uc010dci.2 - 1 52 c.45C>T c.(43-45)CTC>CTT p.L15L C17orf67_uc002iuq.2_RNA NM_001085430 NP_001078899 Q0P5P2 CQ067_HUMAN hypothetical protein LOC339210 precursor 15 extracellular region 0 Breast(9;2.49e-06) GCCTCTTGCTGAGTGAATCCT 0.517 NaN 0 0 0 0.006214 0 10 81 CLTC 1213 broad.mit.edu 37 17 57743597 57743597 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:57743597C>G uc002ixq.1 + 11 2221 c.1778C>G c.(1777-1779)CCT>CGT p.P593R CLTC_uc002ixp.2_Missense_Mutation_p.P593R|CLTC_uc002ixr.1_Missense_Mutation_p.P597R NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 593 Heavy chain arm.|Distal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ATGCATGCGCCTCAAGTATGT 0.433 NaN T ALK|TFE3 ALCL|renal 0 0 0 0.000978 0 10 100 CLTC 1213 broad.mit.edu 37 17 57754433 57754433 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:57754433C>G uc002ixq.1 + 17 3123 c.2680C>G c.(2680-2682)CTT>GTT p.L894V CLTC_uc002ixp.2_Missense_Mutation_p.L894V|CLTC_uc002ixr.1_Missense_Mutation_p.L898V NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 894 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GGAGAGATTTCTTCGTGAAAA 0.458 NaN T ALK|TFE3 ALCL|renal 0 0 0 0.002222 0 43 58 MED13 9969 broad.mit.edu 37 17 60108955 60108955 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60108955G>A uc002izo.2 - 6 936 c.859C>T c.(859-861)CAG>TAG p.Q287* MED13_uc002izp.2_5'Flank NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 287 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 ATGTCTGACTGAGGGACTAGA 0.468 NaN 0 0 0 0.000978 0 11 51 MRC2 9902 broad.mit.edu 37 17 60743976 60743976 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60743976C>G uc002jad.2 + 4 1257 c.855C>G c.(853-855)ATC>ATG p.I285M MRC2_uc002jac.2_Missense_Mutation_p.I285M NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 285 Extracellular (Potential).|C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 AGACCTACATCAACGGTGAGC 0.677 NaN 0 0 0 0.000248 0 4 18 MRC2 9902 broad.mit.edu 37 17 60767311 60767311 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:60767311G>A uc002jad.2 + 25 4032 c.3630G>A c.(3628-3630)CAG>CAA p.Q1210Q MRC2_uc002jae.2_Silent_p.Q281Q|MRC2_uc002jaf.2_Silent_p.Q76Q NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1210 Extracellular (Potential).|C-type lectin 7. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGGGCTGGCAGGACGGGGAGC 0.677 NaN 0 0 0 0.000602 0 5 38 GNA13 10672 broad.mit.edu 37 17 63052692 63052692 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:63052692G>A uc002jfc.2 - 1 229 c.20C>T c.(19-21)TCG>TTG p.S7L GNA13_uc010wqh.1_5'Flank NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 7 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 CACGGACCGCGACGGCAGGAA 0.587 NaN 0 0 0 0.00361 0 94 114 FAM20A 54757 broad.mit.edu 37 17 66550954 66550954 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66550954C>T uc002jho.2 - 3 892 c.604G>A c.(604-606)GAG>AAG p.E202K FAM20A_uc010wqp.1_Missense_Mutation_p.E64K|FAM20A_uc002jhn.2_5'UTR NM_017565 NP_060035 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 202 extracellular region 0 Breast(10;1.64e-13) AAGGCTTTCTCATCTTGACTG 0.542 NaN 0 0 0 0.00874 0 39 39 ABCA8 10351 broad.mit.edu 37 17 66899010 66899010 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66899010G>C uc002jhp.2 - 19 2667 c.2488C>G c.(2488-2490)CTA>GTA p.L830V ABCA8_uc002jhq.2_Missense_Mutation_p.L870V|ABCA8_uc010wqq.1_Missense_Mutation_p.L870V|ABCA8_uc010wqr.1_Missense_Mutation_p.L809V|ABCA8_uc002jhr.2_Missense_Mutation_p.L870V NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 830 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CCAGCCATTAGAATTAATAGC 0.348 NaN 0 0 0 0.003954 0 20 106 ABCA8 10351 broad.mit.edu 37 17 66925208 66925208 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66925208G>A uc002jhp.2 - 8 1286 c.1107C>T c.(1105-1107)TTC>TTT p.F369F ABCA8_uc002jhq.2_Silent_p.F369F|ABCA8_uc010wqq.1_Silent_p.F369F|ABCA8_uc010wqr.1_Silent_p.F308F|ABCA8_uc002jhr.2_Silent_p.F369F NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 369 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TTCCAAGCATGAAGGCAAAGG 0.458 NaN 0 0 0 0.00632 0 24 76 ABCA9 10350 broad.mit.edu 37 17 66980209 66980209 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:66980209G>A uc002jhu.2 - 35 4630 c.4487C>T c.(4486-4488)TCA>TTA p.S1496L ABCA9_uc010dez.2_Missense_Mutation_p.S1458L NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1496 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CAGCCTTCCTGACACCATGAT 0.597 NaN 0 0 0 0.004656 0 24 110 KCTD2 23510 broad.mit.edu 37 17 73055613 73055613 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:73055613G>A uc002jmp.2 + 4 616 c.549G>A c.(547-549)GTG>GTA p.V183V KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 183 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) AGGGCCCCGTGAAGCACGTGT 0.527 NaN 0 0 0 0.003163 0 16 38 SRP68 6730 broad.mit.edu 37 17 74056437 74056437 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74056437C>T uc002jqk.1 - 7 824 c.789G>A c.(787-789)ATG>ATA p.M263I SRP68_uc010wsu.1_Missense_Mutation_p.M162I|SRP68_uc002jql.1_Missense_Mutation_p.M225I NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 263 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 ACCTCAATCTCATCTGCATGA 0.428 NaN 0 0 0 0.003954 0 19 96 SRP68 6730 broad.mit.edu 37 17 74068563 74068563 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74068563C>T uc002jqk.1 - 1 45 c.10G>A c.(10-12)GAG>AAG p.E4K SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.E4K|GALR2_uc002jqm.1_5'Flank NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 4 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 ACCTGCTTCTCAGCAGCCATC 0.463 NaN 0 0 0 0.00278 0 23 80 UBE2O 63893 broad.mit.edu 37 17 74387651 74387651 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74387651G>A uc002jrm.3 - 18 3317 c.3252C>T c.(3250-3252)TTC>TTT p.F1084F UBE2O_uc002jrl.3_Silent_p.F688F NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1084 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GGTCACTGTCGAAGCCGGCTT 0.577 NaN 0 0 0 0.00361 0 45 121 SFRS2 6427 broad.mit.edu 37 17 74732523 74732523 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74732523C>A uc002jsv.2 - 2 556 c.386G>T c.(385-387)CGA>CTA p.R129L SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R129L|SFRS2_uc010wtg.1_Missense_Mutation_p.R117L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 129 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 ACTCCGGGATCGGCTGCGGCG 0.552 NaN 1 0 1.49906e-05 0.00245 1.80187e-05 13 66 DNAH17 8632 broad.mit.edu 37 17 76451810 76451810 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:76451810G>A uc010dhp.1 - 8 1308 c.1086C>T c.(1084-1086)TTC>TTT p.F362F DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGTAGGACACGAAGGCAGAGA 0.522 NaN 0 0 0 0.004482 0 9 21 EIF4A3 9775 broad.mit.edu 37 17 78115614 78115614 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78115614G>A uc010wuc.1 - 4 349 c.276C>T c.(274-276)TTC>TTT p.F92F EIF4A3_uc002jxs.2_Silent_p.F92F NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 92 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) CTGAGATACTGAAGGTGGCTG 0.438 NaN 0 0 0 0.006122 0 17 42 EIF4A3 9775 broad.mit.edu 37 17 78115643 78115643 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78115643G>A uc010wuc.1 - 4 320 c.247C>T c.(247-249)CAG>TAG p.Q83* EIF4A3_uc002jxs.2_Nonsense_Mutation_p.Q83* NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 83 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GTGCCGGACTGAGACCTATTC 0.478 NaN 0 0 0 0.001368 0 12 42 RNF213 57674 broad.mit.edu 37 17 78359383 78359383 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:78359383C>G uc002jyh.1 + 36 8943 c.8720C>G c.(8719-8721)TCC>TGC p.S2907C uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 1200 ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCTTTCTGTCCACATGGAAC 0.498 NaN 0 0 0 0.001368 0 10 44 SLC38A10 124565 broad.mit.edu 37 17 79263557 79263557 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:79263557G>A uc002jzz.1 - 2 526 c.151C>T c.(151-153)CAC>TAC p.H51Y SLC38A10_uc002kab.2_Missense_Mutation_p.H51Y NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 51 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACGACTGGTGCGTCATCCAT 0.632 NaN 0 0 0 0.004007 0 15 35 EPB41L3 23136 broad.mit.edu 37 18 5398076 5398076 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:5398076G>A uc002kmt.1 - 17 2502 c.2416C>T c.(2416-2418)CGA>TGA p.R806* EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198* NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 806 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GTTGGTTTTCGCGCAGACTCT 0.453 NaN 0 0 0 0.00361 0 45 306 ANKRD12 23253 broad.mit.edu 37 18 9255144 9255144 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:9255144G>A uc002knv.2 + 9 2136 c.1879G>A c.(1879-1881)GAA>AAA p.E627K ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 627 nucleus ovary(2)|central_nervous_system(1) 3 AATAAAGGATGAAGATCATAG 0.184 NaN 0 0 0 0.00278 0 25 82 PSMG2 56984 broad.mit.edu 37 18 12706694 12706694 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:12706694C>G uc002krk.2 + 2 246 c.203C>G c.(202-204)TCA>TGA p.S68* PSMG2_uc002krg.2_Nonsense_Mutation_p.S37*|PSMG2_uc002krj.1_Nonsense_Mutation_p.S68* NM_020232 NP_064617 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly 68 proteasome assembly nucleus protein binding 0 GAAGGAAATTCAACAGAACTT 0.323 NaN 0 0 0 0.002299 0 22 56 GATA6 2627 broad.mit.edu 37 18 19780746 19780746 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:19780746C>A uc002ktt.1 + 7 2013 c.1748C>A c.(1747-1749)TCC>TAC p.S583Y GATA6_uc002ktu.1_Missense_Mutation_p.S583Y NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 583 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GTCACGTCCTCCGTGCGACCG 0.672 NaN 1 0 2.79863e-10 0.004656 3.46223e-10 27 253 RBBP8 5932 broad.mit.edu 37 18 20564853 20564853 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:20564853G>A uc002ktw.2 + 8 940 c.609G>A c.(607-609)ATG>ATA p.M203I RBBP8_uc002kty.2_Missense_Mutation_p.M203I|RBBP8_uc002ktz.2_Missense_Mutation_p.M203I|RBBP8_uc002kua.2_Missense_Mutation_p.M203I|RBBP8_uc002ktx.1_Missense_Mutation_p.M203I NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 203 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CCTTAGAAATGAGAAAAGTTT 0.274 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.006214 0 9 61 LAMA3 3909 broad.mit.edu 37 18 21494446 21494446 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:21494446G>C uc002kuq.2 + 57 7488 c.7402G>C c.(7402-7404)GAG>CAG p.E2468Q LAMA3_uc002kur.2_Missense_Mutation_p.E2412Q|LAMA3_uc002kus.3_Missense_Mutation_p.E859Q|LAMA3_uc002kut.3_Missense_Mutation_p.E803Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2468 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGGACCGTGAGGCTGAACT 0.537 NaN 0 0 0 0.001168 0 5 72 DSC2 1824 broad.mit.edu 37 18 28673588 28673588 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:28673588C>G uc002kwl.3 - 2 542 c.88G>C c.(88-90)GAT>CAT p.D30H DSC2_uc002kwk.3_Missense_Mutation_p.D30H|DSC2_uc010xbo.1_Missense_Mutation_p.D30H NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 30 homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTGCAGGCATCACTGGCAAAT 0.259 NaN 0 0 0 0.00361 0 54 135 DSG2 1829 broad.mit.edu 37 18 29126602 29126602 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29126602C>G uc002kwu.3 + 15 3441 c.3253C>G c.(3253-3255)CTG>GTG p.L1085V uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 1085 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCCTGGCCCTCTGCCAGATTT 0.478 NaN 0 0 0 0.003954 0 24 85 MCART2 147407 broad.mit.edu 37 18 29340499 29340499 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29340499G>T uc002kxa.2 - 1 345 c.126C>A c.(124-126)TTC>TTA p.F42L NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN mitochondrial carrier triple repeat 2 42 Solcar 1.|Helical; Name=1; (Potential). transport integral to membrane|mitochondrial inner membrane skin(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.0539) CGACGTTGTTGAAGGCTGCAC 0.438 NaN 1 0 6.03219e-31 0.00361 7.7075e-31 49 126 FAM59A 64762 broad.mit.edu 37 18 29848662 29848662 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:29848662C>A uc002kxl.2 - 6 1859 c.1803G>T c.(1801-1803)GTG>GTT p.V601V FAM59A_uc002kxk.1_Silent_p.V600V NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 601 ovary(1)|skin(1) 2 AATCAGTTTTCACTCGGTTAC 0.458 NaN 1 0 1.05317e-09 0.00245 1.29843e-09 15 46 CELF4 56853 broad.mit.edu 37 18 34839145 34839145 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:34839145G>A uc002lae.2 - 11 1728 c.1332C>T c.(1330-1332)TTC>TTT p.F444F CELF4_uc010dnd.1_Silent_p.F442F|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Silent_p.F438F|CELF4_uc002lai.2_Silent_p.F428F NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 444 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TGACATTACCGAAAGGGAGGA 0.488 NaN 0 0 0 0.005443 0 24 61 SLC14A2 8170 broad.mit.edu 37 18 43221187 43221187 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:43221187C>A uc010dnj.2 + 9 1326 c.1005C>A c.(1003-1005)GCC>GCA p.A335A SLC14A2_uc002lbb.2_Silent_p.A335A|SLC14A2_uc002lbe.2_Silent_p.A335A NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 335 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TGTCAGTGGCCACACCCTTCG 0.577 NaN 1 0 6.81908e-15 0.00245 8.55355e-15 14 136 TCEB3B 51224 broad.mit.edu 37 18 44559892 44559892 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:44559892C>G uc002lcr.1 - 1 2097 c.1744G>C c.(1744-1746)GAC>CAC p.D582H KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 582 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CGTAATTCGTCTGTCTCTCTA 0.517 NaN 0 0 0 0.004482 0 8 77 IER3IP1 51124 broad.mit.edu 37 18 44702592 44702592 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:44702592G>T uc002lcu.2 - 1 154 c.57C>A c.(55-57)ATC>ATA p.I19I NM_016097 NP_057181 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 19 Helical; (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane 0 GCAGCACTGCGATGGCGTTGA 0.468 NaN 1 0 3.59834e-05 0.001168 4.30724e-05 6 16 SKA1 220134 broad.mit.edu 37 18 47918545 47918545 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:47918545G>A uc002let.2 + 7 880 c.696G>A c.(694-696)CTG>CTA p.L232L SKA1_uc002leu.2_Silent_p.L232L|SKA1_uc010xdl.1_Silent_p.L186L NM_145060 NP_659497 Q96BD8 SKA1_HUMAN spindle and KT associated 1 232 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 ACGTGTTACTGAATATTTTAC 0.393 NaN 0 0 0 0.003271 0 33 82 ATP8B1 5205 broad.mit.edu 37 18 55322535 55322535 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:55322535C>T uc002lgw.2 - 22 2822 c.2822G>A c.(2821-2823)CGA>CAA p.R941Q uc002lgu.1_Intron|uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 941 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GTAAGACCATCGGCCATGCAC 0.433 NaN Byler_disease 0 0 0 0.007291 0 30 96 ZNF532 55205 broad.mit.edu 37 18 56585882 56585882 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:56585882G>A uc002lho.2 + 4 910 c.363G>A c.(361-363)CTG>CTA p.L121L ZNF532_uc002lhp.2_Silent_p.L119L|ZNF532_uc010xeg.1_Silent_p.L119L|ZNF532_uc002lhr.2_Silent_p.L119L|ZNF532_uc002lhs.2_Silent_p.L119L NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AGGTGACACTGAAAGACTCGA 0.493 NaN 0 0 0 0.002299 0 21 97 SERPINB8 5271 broad.mit.edu 37 18 61647057 61647057 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:61647057G>A uc002ljv.2 + 3 360 c.191G>A c.(190-192)GGA>GAA p.G64E SERPINB8_uc002ljs.1_Missense_Mutation_p.G64E|SERPINB8_uc002ljt.2_Missense_Mutation_p.G64E|SERPINB8_uc002lju.2_Missense_Mutation_p.G64E|SERPINB8_uc010xex.1_5'UTR NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 64 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) TACAAAGACGGAGATATTCAC 0.433 NaN OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003755 0 33 108 PARD6G 84552 broad.mit.edu 37 18 77917935 77917935 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:77917935C>T uc002lny.2 - 3 1016 c.850G>A c.(850-852)GTC>ATC p.V284I LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron NM_032510 NP_115899 Q9BYG4 PAR6G_HUMAN PAR-6 gamma protein 284 cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding 0 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) TTCTGCAGGACGCGCGGGGCG 0.731 NaN 0 0 0 0.000602 0 5 18 ABCA7 10347 broad.mit.edu 37 19 1043124 1043124 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:1043124G>A uc002lqw.3 + 8 895 c.664G>A c.(664-666)GAG>AAG p.E222K ABCA7_uc010dsb.1_Missense_Mutation_p.E84K NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 222 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GTTGCTGTCAGAGGCCCTCTG 0.657 NaN 0 0 0 0.003163 0 15 68 HMHA1 23526 broad.mit.edu 37 19 1068607 1068607 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:1068607G>A uc002lqz.1 + 2 516 c.285G>A c.(283-285)CTG>CTA p.L95L HMHA1_uc010xgd.1_Silent_p.L111L|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 95 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GGAGCCCACTGACAGCCGCCA 0.741 NaN 0 0 0 0.00308 0 8 30 ZNF555 148254 broad.mit.edu 37 19 2853858 2853858 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:2853858C>T uc002lwo.2 + 4 1884 c.1795C>T c.(1795-1797)CCT>TCT p.P599S ZNF555_uc002lwn.3_Missense_Mutation_p.P598S NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) TGTAGGACATCCTCCTGCAAA 0.388 NaN 0 0 0 0.004007 0 15 87 ZNF556 80032 broad.mit.edu 37 19 2873567 2873567 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:2873567G>C uc002lwp.1 + 2 164 c.77G>C c.(76-78)AGA>ACA p.R26T ZNF556_uc002lwq.2_Missense_Mutation_p.R26T NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 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) CCTGCTCAGAGAAAACTCTAC 0.438 NaN 0 0 0 0.008361 0 30 93 CHAF1A 10036 broad.mit.edu 37 19 4408975 4408975 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:4408975C>T uc002mal.2 + 3 279 c.179C>T c.(178-180)TCT>TTT p.S60F NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 60 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTACTTCTGTGCAAAGT 0.473 NaN Chromatin_Structure 0 0 0 0.00361 0 69 145 UBXN6 80700 broad.mit.edu 37 19 4453979 4453979 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:4453979C>T uc002man.1 - 2 291 c.195G>A c.(193-195)CAG>CAA p.Q65Q UBXN6_uc010dty.1_Silent_p.Q12Q|UBXN6_uc002mam.1_Silent_p.Q12Q NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 65 microtubule organizing center|nucleus protein binding 0 GGGACTGCTTCTGCTCCAGCC 0.672 NaN 0 0 0 0.00361 0 48 127 LONP1 9361 broad.mit.edu 37 19 5694465 5694465 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:5694465G>A uc002mcx.2 - 15 2286 c.2253C>T c.(2251-2253)TTC>TTT p.F751F LONP1_uc002mcy.2_Silent_p.F687F|LONP1_uc010duh.2_Silent_p.F492F|LONP1_uc010dui.2_Silent_p.F735F|LONP1_uc002mcz.2_Silent_p.F555F NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 751 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GCTCCACGGTGAACACGGGCT 0.642 NaN 0 0 0 0.001168 0 5 63 EMR1 2015 broad.mit.edu 37 19 6928195 6928195 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:6928195C>T uc002mfw.2 + 17 2300 c.2262C>T c.(2260-2262)TTC>TTT p.F754F EMR1_uc010dvc.2_Silent_p.F689F|EMR1_uc010dvb.2_Silent_p.F702F|EMR1_uc010xji.1_Silent_p.F613F|EMR1_uc010xjj.1_Silent_p.F577F NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 754 Helical; Name=5; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TCTGGAGTTTCTTGGGGCCAG 0.498 NaN 0 0 0 0.00361 0 45 116 C19orf45 374877 broad.mit.edu 37 19 7569023 7569023 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:7569023C>T uc002mgm.2 + 3 735 c.594C>T c.(592-594)CTC>CTT p.L198L C19orf45_uc010xjo.1_5'Flank NM_198534 NP_940936 Q8NA69 CS045_HUMAN hypothetical protein LOC374877 198 0 CCAACACCCTCAAGTGGGACT 0.547 NaN 0 0 0 0.00308 0 7 34 MAP2K7 5609 broad.mit.edu 37 19 7968919 7968919 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:7968919C>G uc002mit.2 + 1 155 c.90C>G c.(88-90)CTC>CTG p.L30L MAP2K7_uc002mis.1_Silent_p.L30L|MAP2K7_uc002miv.2_Silent_p.L30L|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.L30L|MAP2K7_uc010dvv.2_5'UTR NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 30 Potential. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GGATCGACCTCAACCTGGATA 0.398 NaN 0 0 0 0.004482 0 8 30 ELAVL1 1994 broad.mit.edu 37 19 8032455 8032455 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:8032455C>G uc002mjb.2 - 5 817 c.650G>C c.(649-651)AGA>ACA p.R217T NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 217 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 CCACCTGAATCTCTGCGCCTG 0.622 NaN 0 0 0 0.004482 0 8 24 MUC16 94025 broad.mit.edu 37 19 9084097 9084097 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9084097G>A uc002mkp.2 - 1 7922 c.7718C>T c.(7717-7719)TCT>TTT p.S2573F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2573 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTGGTGAAGAATGAATGGC 0.502 NaN 0 0 0 0.00632 0 28 102 MUC16 94025 broad.mit.edu 37 19 9086405 9086405 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9086405C>T uc002mkp.2 - 1 5614 c.5410G>A c.(5410-5412)GAA>AAA p.E1804K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1804 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTGTATTTTCAGTGCTTCCC 0.463 NaN 0 0 0 0.004656 0 27 69 MUC16 94025 broad.mit.edu 37 19 9090786 9090786 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:9090786G>C uc002mkp.2 - 1 1233 c.1029C>G c.(1027-1029)GTC>GTG p.V343V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 343 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTGCTTCTGACCCTTTCGG 0.507 NaN 0 0 0 0.003163 0 16 51 DNMT1 1786 broad.mit.edu 37 19 10250949 10250949 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10250949G>A uc002mng.2 - 32 3711 c.3531C>T c.(3529-3531)TTC>TTT p.F1177F DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.F101F|DNMT1_uc010xlc.1_Silent_p.F1193F|DNMT1_uc002mnh.2_Silent_p.F1072F|DNMT1_uc010xld.1_Silent_p.F1177F NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1177 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TGTTCAGCCGGAACGCCTGGG 0.612 NaN 0 0 0 0.00499 0 17 55 S1PR2 9294 broad.mit.edu 37 19 10335096 10335096 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10335096G>A uc002mnl.2 - 2 597 c.486C>T c.(484-486)CTC>CTT p.L162L NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 162 Helical; Name=4; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 GCAGGCCACCGAGGACCAGCG 0.627 NaN 0 0 0 0.002299 0 22 54 TYK2 7297 broad.mit.edu 37 19 10461569 10461569 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:10461569G>A uc002moc.3 - 25 3883 c.3505C>T c.(3505-3507)CTG>TTG p.L1169L TYK2_uc010dxe.2_Silent_p.L984L NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 1169 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ACTGTCTTCAGAATGGGTATG 0.557 NaN 0 0 0 0.00278 0 23 80 SMARCA4 6597 broad.mit.edu 37 19 11121153 11121153 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11121153G>A uc002mqf.3 + 15 2504 c.2220G>A c.(2218-2220)GAG>GAA p.E740E SMARCA4_uc010dxp.2_Silent_p.E740E|SMARCA4_uc010dxo.2_Silent_p.E740E|SMARCA4_uc002mqg.1_Silent_p.E740E|SMARCA4_uc010dxq.2_Silent_p.E740E|SMARCA4_uc010dxr.2_Silent_p.E740E|SMARCA4_uc002mqj.3_Silent_p.E740E|SMARCA4_uc010dxs.2_Silent_p.E740E|SMARCA4_uc010dxt.1_5'Flank NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 740 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTGTCACTGAGAGAGTGGACA 0.587 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.002445 0 32 76 SMARCA4 6597 broad.mit.edu 37 19 11121155 11121155 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11121155G>A uc002mqf.3 + 15 2506 c.2222G>A c.(2221-2223)AGA>AAA p.R741K SMARCA4_uc010dxp.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxo.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqg.1_Missense_Mutation_p.R741K|SMARCA4_uc010dxq.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxr.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqj.3_Missense_Mutation_p.R741K|SMARCA4_uc010dxs.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxt.1_5'Flank NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 741 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GTCACTGAGAGAGTGGACAAG 0.582 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.002836 0 33 77 KANK2 25959 broad.mit.edu 37 19 11277264 11277264 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11277264C>G uc010dxv.2 - 15 3084 c.2526G>C c.(2524-2526)GAG>GAC p.E842D KANK2_uc002mqm.2_Missense_Mutation_p.E850D|KANK2_uc002mqo.3_Missense_Mutation_p.E842D NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 842 0 ATGTAGGGCTCTCGTCATCTG 0.587 NaN 0 0 0 0.001368 0 11 71 ZNF441 126068 broad.mit.edu 37 19 11892012 11892012 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11892012C>G uc010dyj.2 + 4 1567 c.1373C>G c.(1372-1374)TCT>TGT p.S458C ZNF441_uc002msn.3_Missense_Mutation_p.S414C NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 458 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCCTTCAGGTCTTCCAATTAC 0.398 NaN 0 0 0 0.005443 0 28 43 ZNF441 126068 broad.mit.edu 37 19 11892189 11892189 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:11892189C>T uc010dyj.2 + 4 1744 c.1550C>T c.(1549-1551)TCA>TTA p.S517L ZNF441_uc002msn.3_Missense_Mutation_p.S473L NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 517 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCCCAGTTCATTTCGAAGA 0.398 NaN 0 0 0 0.001786 0 32 61 ZNF433 163059 broad.mit.edu 37 19 12125889 12125889 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12125889G>C uc002msy.1 - 4 1964 c.1793C>G c.(1792-1794)TCT>TGT p.S598C uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.S563C NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 598 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACATCCAAAAGACTTCCCACA 0.468 NaN 0 0 0 0.001786 0 30 125 ZNF433 163059 broad.mit.edu 37 19 12126042 12126042 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12126042G>T uc002msy.1 - 4 1811 c.1640C>A c.(1639-1641)TCA>TAA p.S547* uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.S512* NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 547 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGAAGCTGTGAGGCAGATCT 0.453 NaN 1 0 2.4375e-19 0.007291 3.08979e-19 30 112 ZNF791 163049 broad.mit.edu 37 19 12739289 12739289 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12739289C>G uc002mua.2 + 4 1108 c.946C>G c.(946-948)CAA>GAA p.Q316E ZNF791_uc010xml.1_Missense_Mutation_p.Q284E|ZNF791_uc010dyu.1_Missense_Mutation_p.Q207E|ZNF791_uc010xmm.1_Missense_Mutation_p.Q207E NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 316 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CACCTCCATTCAAATTCATGA 0.393 NaN 0 0 0 0.001855 0 11 54 JUNB 3726 broad.mit.edu 37 19 12903392 12903392 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:12903392C>G uc002mvc.2 + 1 1083 c.807C>G c.(805-807)ATC>ATG p.I269M JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 269 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 AAGAGCGCATCAAAGTGGAGC 0.682 NaN 0 0 0 0.004672 0 2 8 GCDH 2639 broad.mit.edu 37 19 13007200 13007200 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:13007200G>C uc002mvq.2 + 8 894 c.817G>C c.(817-819)GAG>CAG p.E273Q GCDH_uc010xms.1_Missense_Mutation_p.E240Q|GCDH_uc002mvp.2_Missense_Mutation_p.E273Q|GCDH_uc010xmt.1_Missense_Mutation_p.E107Q|GCDH_uc010xmu.1_Missense_Mutation_p.E229Q NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 273 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 GGAGGTGCCAGAGGAGAATGT 0.632 NaN 0 0 0 0.001984 0 5 35 TRMT1 55621 broad.mit.edu 37 19 13218411 13218411 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:13218411G>A uc002mwj.2 - 13 1810 c.1560C>T c.(1558-1560)TTC>TTT p.F520F TRMT1_uc010xmy.1_Silent_p.F124F|TRMT1_uc002mwk.2_Silent_p.F491F|TRMT1_uc002mwl.3_Silent_p.F520F|TRMT1_uc010xmz.1_Silent_p.F306F NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 520 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) TGAGAATGCGGAACGCTGGGC 0.582 NaN 0 0 0 0.006214 0 8 11 BRD4 23476 broad.mit.edu 37 19 15349940 15349940 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:15349940C>T uc002nar.2 - 18 3934 c.3712G>A c.(3712-3714)GAG>AAG p.E1238K NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1238 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AGGGCCTTCTCACGCTCCTCT 0.662 NaN T NUT|C15orf55 lethal midline carcinoma of young people 0 0 0 0.001368 0 12 11 CYP4F3 4051 broad.mit.edu 37 19 15760750 15760750 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:15760750C>G uc002nbj.2 + 7 725 c.675C>G c.(673-675)ATC>ATG p.I225M CYP4F3_uc010xok.1_Missense_Mutation_p.I225M|CYP4F3_uc010xol.1_Missense_Mutation_p.I225M|CYP4F3_uc010xom.1_Missense_Mutation_p.I76M|CYP4F3_uc002nbk.2_Missense_Mutation_p.I225M|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 225 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 TTGCCGCCATCTTGGAGCTCA 0.522 NaN 0 0 0 0.00361 0 63 221 GTPBP3 84705 broad.mit.edu 37 19 17452360 17452360 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17452360G>A uc010eas.2 + 9 1392 c.1327G>A c.(1327-1329)GAT>AAT p.D443N GTPBP3_uc010xpo.1_Missense_Mutation_p.D465N|GTPBP3_uc002ngh.3_Missense_Mutation_p.D422N|GTPBP3_uc002ngg.3_Missense_Mutation_p.D475N|GTPBP3_uc002ngi.3_Missense_Mutation_p.D109N NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 443 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 GGGTTGCCTGGATGCCCTCGG 0.642 NaN 0 0 0 0.008291 0 11 72 PGLS 25796 broad.mit.edu 37 19 17631815 17631815 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17631815G>A uc002ngw.2 + 5 752 c.702G>A c.(700-702)GGG>GGA p.G234G FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank NM_012088 NP_036220 O95336 6PGL_HUMAN 6-phosphogluconolactonase 234 cytosol 6-phosphogluconolactonase activity 0 CCCACACCGGGAAACTGTGCT 0.652 NaN 0 0 0 0.000602 0 5 9 MAP1S 55201 broad.mit.edu 37 19 17838864 17838864 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:17838864G>A uc002nhe.1 + 5 2680 c.2671G>A c.(2671-2673)GGT>AGT p.G891S MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.G139S|MAP1S_uc010xpv.1_Missense_Mutation_p.G865S NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 891 Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GGGGCTTGCTGGTGGGGACCG 0.682 NaN 0 0 0 0.008291 0 10 26 UBA52 7311 broad.mit.edu 37 19 18684102 18684102 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:18684102G>A uc002njr.2 + 2 107 c.-7_splice c.e2-1 UBA52_uc002njs.2_Splice_Site|UBA52_uc002njt.2_Splice_Site NM_001033930 NP_001029102 P62987 RL40_HUMAN ubiquitin and ribosomal protein L40 precursor activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome 0 TCCTCCTGCAGACGCAAACAT 0.517 NaN 0 0 0 0.001984 0 6 28 NCAN 1463 broad.mit.edu 37 19 19334931 19334931 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:19334931C>G uc002nlz.2 + 4 676 c.577C>G c.(577-579)CGG>GGG p.R193G NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 193 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TGCAGCCCCTCGGCATCTACA 0.602 NaN 0 0 0 0.008291 0 11 41 ZNF99 7652 broad.mit.edu 37 19 22940381 22940381 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:22940381C>T uc010xrh.1 - 5 2057 c.2057G>A c.(2056-2058)AGA>AAA p.R686K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTATGTTTTCTAAGGGCTGA 0.348 NaN 0 0 0 0.008291 0 11 77 ZNF99 7652 broad.mit.edu 37 19 22940551 22940551 + Silent SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:22940551A>C uc010xrh.1 - 5 1887 c.1887T>G c.(1885-1887)CTT>CTG p.L629L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATGTTTTCTAAGAGTTGAGG 0.363 NaN 0 0 0 0.003163 0 15 64 ZNF91 7644 broad.mit.edu 37 19 23578152 23578152 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:23578152G>A uc002nre.2 - 1 118 c.5C>T c.(4-6)CCA>CTA p.P2L ZNF91_uc010xrj.1_Missense_Mutation_p.P2L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 2 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGGGGTTCCTGGCATCTTAGC 0.612 NaN 0 0 0 0.004656 0 21 78 ZNF507 22847 broad.mit.edu 37 19 32873422 32873422 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:32873422C>A uc002nte.2 + 6 2682 c.2410C>A c.(2410-2412)CAT>AAT p.H804N ZNF507_uc002ntd.2_Missense_Mutation_p.H804N NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 804 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) TTTGAAGTCTCATATGTGGAA 0.443 NaN 1 0 6.17869e-53 0.00361 7.94403e-53 108 338 DPY19L3 147991 broad.mit.edu 37 19 32973094 32973094 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:32973094G>C uc002ntg.2 + 19 2275 c.2099G>C c.(2098-2100)AGA>ACA p.R700T DPY19L3_uc002nth.1_Missense_Mutation_p.R700T|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.R122T NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 700 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TACTTCACCAGAGTGTTCCAG 0.478 NaN 0 0 0 0.00361 0 114 199 RHPN2 85415 broad.mit.edu 37 19 33490610 33490610 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:33490610C>T uc002nuf.2 - 10 1173 c.1107G>A c.(1105-1107)GTG>GTA p.V369V RHPN2_uc010xro.1_Silent_p.V218V|RHPN2_uc002nue.2_Silent_p.V99V NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 369 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) TGCCTGGCTTCACTGCAAAGA 0.542 NaN 0 0 0 0.002096 0 27 64 KIAA0355 9710 broad.mit.edu 37 19 34791501 34791501 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:34791501G>A uc002nvd.3 + 2 982 c.123G>A c.(121-123)CTG>CTA p.L41L KIAA0355_uc010edk.1_Silent_p.L31L NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 41 ovary(1) 1 Esophageal squamous(110;0.162) GCCGAGCACTGAGTGCTCCCC 0.637 NaN 0 0 0 0.002299 0 24 65 SCN1B 6324 broad.mit.edu 37 19 35523533 35523533 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:35523533G>C uc002nxp.2 + 2 333 c.142G>C c.(142-144)GAG>CAG p.E48Q SCN1B_uc002nxo.1_Missense_Mutation_p.E48Q|SCN1B_uc010xsg.1_Missense_Mutation_p.E48Q NM_001037 NP_001028 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta 48 Extracellular (Potential).|Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCGCCGCAGCGAGACCAACGC 0.627 NaN 0 0 0 0.00361 0 43 190 LSR 51599 broad.mit.edu 37 19 35758329 35758329 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:35758329G>A uc002nyl.2 + 9 1829 c.1606G>A c.(1606-1608)GAC>AAC p.D536N LSR_uc002nym.2_Missense_Mutation_p.D517N|LSR_uc002nyn.2_Missense_Mutation_p.D468N|LSR_uc002nyo.2_Missense_Mutation_p.D516N|LSR_uc010xsr.1_Missense_Mutation_p.D428N|LSR_uc002nyp.2_Missense_Mutation_p.D478N|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 536 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CGACCTCTATGACCAAGACGA 0.687 NaN 0 0 0 0.004482 0 9 27 ATP4A 495 broad.mit.edu 37 19 36054367 36054367 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36054367C>T uc002oal.1 - 2 104 c.75G>A c.(73-75)AAG>AAA p.K25K NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 25 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGCTCATCTTGGCAGCCA 0.577 NaN 0 0 0 0.00361 0 75 280 MLL4 9757 broad.mit.edu 37 19 36211234 36211234 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36211234C>T uc010eei.2 + 3 985 c.985C>T c.(985-987)CAA>TAA p.Q329* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 329 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGTCAAGGTCAAGGTCAACA 0.512 NaN 0 0 0 0.000602 0 5 26 TMEM149 79713 broad.mit.edu 37 19 36230880 36230880 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36230880T>C uc002obc.2 - 4 553 c.452A>G c.(451-453)GAG>GGG p.E151G TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.E151G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.E231G NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 151 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGGACAGGCTCAGGGGTCCT 0.632 NaN 0 0 0 0.006999 0 40 51 TMEM149 79713 broad.mit.edu 37 19 36230990 36230990 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:36230990C>T uc002obc.2 - 4 444 c.343_splice c.e4-1 p.R115_splice TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Splice_Site_p.R115_splice|TMEM149_uc010xsy.1_Intron|TMEM149_uc010eej.2_Splice_Site_p.R195_splice NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGACCGGCCTCTGGGGATAAG 0.607 NaN 0 0 0 0.000602 0 4 46 SPRED3 399473 broad.mit.edu 37 19 38882867 38882867 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:38882867C>T uc002oim.2 + 3 366 c.362C>T c.(361-363)TCC>TTC p.S121F SPRED3_uc002oil.1_Missense_Mutation_p.S121F NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 121 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCAccccctcctcctcctcc 0.537 NaN 0 0 0 0.00245 0 15 20 RYR1 6261 broad.mit.edu 37 19 39017663 39017663 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39017663C>G uc002oit.2 + 72 10787 c.10657C>G c.(10657-10659)CTG>GTG p.L3553V RYR1_uc002oiu.2_Missense_Mutation_p.L3548V|RYR1_uc002oiv.1_Missense_Mutation_p.L468V|RYR1_uc010xuf.1_Missense_Mutation_p.L473V NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3553 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCGGGAATTTCTGCACAACAA 0.507 NaN 0 0 0 0.000978 0 11 88 RYR1 6261 broad.mit.edu 37 19 39034011 39034011 + Missense_Mutation SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39034011A>C uc002oit.2 + 85 11844 c.11714A>C c.(11713-11715)CAG>CCG p.Q3905P RYR1_uc002oiu.2_Missense_Mutation_p.Q3900P|RYR1_uc002oiv.1_Missense_Mutation_p.Q814P NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3905 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTACGGACACAGACAGGGAAC 0.488 NaN 0 0 0 0.007291 0 28 153 LRFN1 57622 broad.mit.edu 37 19 39804678 39804678 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39804678G>C uc002okw.2 - 1 1299 c.1299C>G c.(1297-1299)CTC>CTG p.L433L NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 433 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGTTCGAGGTGAGCTCGGCTG 0.652 NaN 0 0 0 0.00308 0 6 44 LRFN1 57622 broad.mit.edu 37 19 39804803 39804803 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39804803G>C uc002okw.2 - 1 1174 c.1174C>G c.(1174-1176)CTG>GTG p.L392V NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 392 Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTGCCATCAGAGGCAGAGGT 0.672 NaN 0 0 0 0.001984 0 7 41 MED29 55588 broad.mit.edu 37 19 39882056 39882056 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:39882056G>C uc002olf.2 + 1 94 c.57G>C c.(55-57)GCG>GCC p.A19A PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Silent_p.A19A|MED29_uc010xux.1_RNA NM_017592 NP_060062 Q9NX70 MED29_HUMAN mediator complex subunit 29 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding ovary(1)|pancreas(1) 2 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGGTCTACGCGAGGAAGATGG 0.617 NaN 0 0 0 0.004482 0 9 33 PRX 57716 broad.mit.edu 37 19 40902007 40902007 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:40902007G>C uc002onr.2 - 7 2521 c.2252C>G c.(2251-2253)TCA>TGA p.S751* PRX_uc002onq.2_Nonsense_Mutation_p.S612*|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 751 51.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCGAATCTCTGACACTTTCGG 0.592 NaN 0 0 0 0.00361 0 60 236 SPTBN4 57731 broad.mit.edu 37 19 41029487 41029487 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:41029487G>C uc002ony.2 + 17 3884 c.3798G>C c.(3796-3798)CTG>CTC p.L1266L SPTBN4_uc002onx.2_Silent_p.L1266L|SPTBN4_uc002onz.2_Silent_p.L1266L|SPTBN4_uc010egx.2_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1266 Spectrin 10. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGGCCTGCTGAGGCAGGGCA 0.632 NaN 0 0 0 0.00333 0 23 74 CYP2A7 1549 broad.mit.edu 37 19 41384835 41384835 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:41384835C>G uc002opm.2 - 5 1203 c.661G>C c.(661-663)GAG>CAG p.E221Q CYP2A7_uc002opo.2_Missense_Mutation_p.E221Q|CYP2A7_uc002opn.2_Missense_Mutation_p.E170Q NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 221 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) GAGAACATCTCATAGAGCTGG 0.527 NaN 0 0 0 0.006122 0 15 46 CIC 23152 broad.mit.edu 37 19 42791575 42791575 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:42791575G>C uc002otf.1 + 4 596 c.556G>C c.(556-558)GAG>CAG p.E186Q NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CTCATCTTCTGAGAAGGATGG 0.597 NaN T DUX4 soft tissue sarcoma 0 0 0 0.00632 0 26 154 BCL3 602 broad.mit.edu 37 19 45262794 45262794 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:45262794C>T uc010xxe.1 + 9 1357 c.1287C>T c.(1285-1287)CCC>CCT p.P429P NM_005178 NP_005169 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 429 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding ovary(1)|lung(1) 2 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CATCTCCACCCGCCTTCCTGC 0.682 NaN T IGH@ CLL 0 0 0 0.001523 0 19 345 FOSB 2354 broad.mit.edu 37 19 45976195 45976195 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:45976195C>T uc002pbx.3 + 4 1534 c.942C>T c.(940-942)TTC>TTT p.F314F ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 314 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) TCTCCGCGTTCGCCGGCGCCC 0.577 NaN 0 0 0 0.00333 0 25 169 FBXO46 23403 broad.mit.edu 37 19 46215530 46215530 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:46215530G>T uc002pcy.2 - 2 1349 c.1224C>A c.(1222-1224)CTC>CTA p.L408L FBXO46_uc002pcz.2_Silent_p.L408L NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 408 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGAGAAAGAAGAGCTGGCCCG 0.701 NaN 1 0 2.52707e-12 0.006214 3.15063e-12 8 62 NPAS1 4861 broad.mit.edu 37 19 47535945 47535945 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47535945C>G uc002pfw.2 + 5 673 c.477C>G c.(475-477)TTC>TTG p.F159L NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.F159L|NPAS1_uc010xyj.1_5'Flank NM_002517 NP_002508 Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 159 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AAGGAAAATTCCTCTACATCT 0.577 NaN OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 25 101 NPAS1 4861 broad.mit.edu 37 19 47535976 47535976 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47535976C>T uc002pfw.2 + 5 704 c.508C>T c.(508-510)CTG>TTG p.L170L NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Silent_p.L170L|NPAS1_uc010xyj.1_5'Flank NM_002517 NP_002508 Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 170 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CTCCATCTATCTGGGTCTCTC 0.552 NaN OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001523 0 20 75 DHX34 9704 broad.mit.edu 37 19 47856631 47856631 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47856631C>T uc010xyn.1 + 2 685 c.344C>T c.(343-345)ACG>ATG p.T115M DHX34_uc010elc.1_Missense_Mutation_p.T115M NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 115 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GGCCCTGCCACGCGGGGCTCT 0.642 NaN 0 0 0 0.005443 0 27 161 NAPA 8775 broad.mit.edu 37 19 47998837 47998837 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:47998837C>G uc002pha.1 - 4 612 c.312G>C c.(310-312)TTG>TTC p.L104F uc002pgz.1_RNA|NAPA_uc002phb.1_Missense_Mutation_p.L65F|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Missense_Mutation_p.L104F|NAPA_uc010elf.1_5'UTR NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 104 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) TTGCTCGCATCAAACAGTTAA 0.567 NaN 0 0 0 0.001523 0 19 216 CCDC114 93233 broad.mit.edu 37 19 48801464 48801464 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:48801464G>T uc002pir.2 - 11 1946 c.1263C>A c.(1261-1263)CTC>CTA p.L421L CCDC114_uc002piq.2_Silent_p.L230L|CCDC114_uc002pio.2_Silent_p.L458L|CCDC114_uc002pis.1_Silent_p.L101L|CCDC114_uc002pit.1_Silent_p.L458L NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 421 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GCACTGTCAGGAGCTCCACCA 0.652 NaN 1 0 3.27435e-08 0.00245 3.98906e-08 15 56 RASIP1 54922 broad.mit.edu 37 19 49238679 49238679 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49238679G>A uc002pki.2 - 4 1150 c.953C>T c.(952-954)TCA>TTA p.S318L NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 318 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CAAGTTTTCTGAGCGCTCCTT 0.701 NaN 0 0 0 0.004482 0 8 24 DHDH 27294 broad.mit.edu 37 19 49436972 49436972 + Translation_Start_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49436972C>G uc002ple.1 + 1 34 c.-6C>G c.(-8--4)ATCGC>ATGGC NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GGCTCCGCATCGCAACCATGG 0.682 NaN 0 0 0 0.008361 0 25 54 TRPM4 54795 broad.mit.edu 37 19 49661463 49661463 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49661463G>T uc002pmw.2 + 2 111 c.39G>T c.(37-39)AAG>AAT p.K13N TRPM4_uc010emu.2_Missense_Mutation_p.K13N|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Missense_Mutation_p.K13N|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 13 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGATCCCCAAGATCTTCAAGA 0.602 NaN 1 0 3.19358e-47 0.00361 4.09871e-47 73 333 TRPM4 54795 broad.mit.edu 37 19 49661514 49661514 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:49661514G>A uc002pmw.2 + 2 162 c.90G>A c.(88-90)CCG>CCA p.P30P TRPM4_uc010emu.2_Silent_p.P30P|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Silent_p.P30P|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 30 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCACAGATCCGGGGTGAGGAG 0.627 NaN 0 0 0 0.00361 0 55 317 FCGRT 2217 broad.mit.edu 37 19 50029338 50029338 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:50029338G>A uc002poe.2 + 7 1546 c.1060G>A c.(1060-1062)GAT>AAT p.D354N FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.D354N|FCGRT_uc002poi.2_RNA|RCN3_uc002poj.2_5'Flank NM_001136019 NP_001129491 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 354 Cytoplasmic (Potential). antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CCAGGATGCTGATTTGAAGGA 0.577 NaN 0 0 0 0.003755 0 33 311 SHANK1 50944 broad.mit.edu 37 19 51165245 51165245 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51165245G>A uc002psx.1 - 23 6482 c.6463C>T c.(6463-6465)CTC>TTC p.L2155F SHANK1_uc002psw.1_Missense_Mutation_p.L1539F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2155 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AAGAATTTGAGAGCCCGGTCG 0.612 NaN 0 0 0 0.005443 0 26 89 ACPT 93650 broad.mit.edu 37 19 51293713 51293713 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51293713C>G uc002pta.1 + 1 42 c.42C>G c.(40-42)CTC>CTG p.L14L NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 14 integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGGACCTCTCctgctgctgc 0.627 NaN 0 0 0 0.000602 0 4 17 SIGLEC8 27181 broad.mit.edu 37 19 51958762 51958762 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:51958762T>C uc002pwt.2 - 4 1028 c.961A>G c.(961-963)AGG>GGG p.R321G SIGLEC8_uc010yda.1_Missense_Mutation_p.R212G|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R228G NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 321 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCTTCATCCCTCACGTGCACT 0.642 NaN 0 0 0 0.001168 0 6 41 FPR2 2358 broad.mit.edu 37 19 52272587 52272587 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:52272587G>T uc002pxr.2 + 2 721 c.676G>T c.(676-678)GCC>TCC p.A226S FPR2_uc002pxs.3_Missense_Mutation_p.A226S|FPR2_uc010epf.2_Missense_Mutation_p.A226S NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 226 Helical; Name=5; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 GCTCATTGCAGCCAAGATCCA 0.498 NaN 1 0 4.67007e-22 0.00874 5.94597e-22 42 58 PPP2R1A 5518 broad.mit.edu 37 19 52719275 52719275 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:52719275C>T uc002pyp.2 + 8 1100 c.941C>T c.(940-942)TCA>TTA p.S314L PPP2R1A_uc010ydk.1_Missense_Mutation_p.S259L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S354L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.S135L NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 314 PP2A subunit B binding.|HEAT 8.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GAAAACCTCTCAGCTGACTGT 0.547 NaN Mis clear cell ovarian carcinoma 0 0 0 0.002222 0 43 51 ZNF845 91664 broad.mit.edu 37 19 53856074 53856074 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:53856074G>C uc010ydv.1 + 4 2263 c.2146G>C c.(2146-2148)GAG>CAG p.E716Q ZNF845_uc010ydw.1_Missense_Mutation_p.E716Q NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 716 Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATACTGGAGAGAAACCTTA 0.418 NaN 0 0 0 0.004289 0 37 118 CACNG6 59285 broad.mit.edu 37 19 54496189 54496189 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:54496189C>T uc002qct.2 + 1 648 c.58C>T c.(58-60)CGG>TGG p.R20W CACNG6_uc002qcu.2_Missense_Mutation_p.R20W|CACNG6_uc002qcv.2_Missense_Mutation_p.R20W NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 20 voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) ggccgcgggccggcggcgggc 0.572 NaN 0 0 0 0.000248 0 4 31 TTYH1 57348 broad.mit.edu 37 19 54933464 54933464 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:54933464G>C uc002qfq.2 + 4 610 c.518G>C c.(517-519)CGA>CCA p.R173P TTYH1_uc010yey.1_Missense_Mutation_p.R222P|TTYH1_uc002qfr.2_Missense_Mutation_p.R173P|TTYH1_uc002qft.2_Missense_Mutation_p.R173P|TTYH1_uc002qfu.1_Missense_Mutation_p.R85P NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 173 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GCTGCCGCCCGAGGGGCTCGA 0.711 NaN 0 0 0 0.000248 0 4 9 NCR1 9437 broad.mit.edu 37 19 55420603 55420603 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:55420603G>A uc002qib.2 + 4 394 c.356_splice c.e4-1 p.E119_splice NCR1_uc002qic.2_Splice_Site_p.E119_splice|NCR1_uc002qie.2_Splice_Site_p.E119_splice|NCR1_uc002qid.2_Splice_Site_p.Q24_splice|NCR1_uc002qif.2_Splice_Site_p.Q24_splice|NCR1_uc010esj.2_Splice_Site_p.E12_splice NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TTCTCTCATAGAAATGTATGA 0.408 NaN 0 0 0 0.001168 0 5 65 RDH13 112724 broad.mit.edu 37 19 55570559 55570559 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:55570559G>A uc002qio.3 - 2 335 c.150C>T c.(148-150)ATC>ATT p.I50I RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 50 NAD or NADP (By similarity). binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) TCTGCTTCCCGATGCCTGTGT 0.483 NaN 0 0 0 0.006214 0 10 8 ZNF471 57573 broad.mit.edu 37 19 57036421 57036421 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:57036421G>A uc002qnh.2 + 5 1118 c.985G>A c.(985-987)GAT>AAT p.D329N NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 329 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGCCTTCAGTGATGGCTCGTC 0.433 NaN 0 0 0 0.003954 0 21 91 ZNF549 256051 broad.mit.edu 37 19 58049333 58049333 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58049333G>A uc002qpb.1 + 4 1210 c.961G>A c.(961-963)GAA>AAA p.E321K ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E308K NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 321 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCACTTGTGGAACACCAGAG 0.438 NaN 0 0 0 0.001523 0 21 90 ZSCAN1 284312 broad.mit.edu 37 19 58551908 58551908 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58551908C>T uc002qrc.1 + 4 708 c.461C>T c.(460-462)TCG>TTG p.S154L NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 154 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AAAGAACCATCGCAGGTGAGC 0.627 NaN 0 0 0 0.006214 0 9 172 ZSCAN22 342945 broad.mit.edu 37 19 58850581 58850581 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58850581G>C uc002qsc.2 + 3 1512 c.1365G>C c.(1363-1365)CAG>CAC p.Q455H ZSCAN22_uc010yhz.1_3'UTR NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 455 C2H2-type 7. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) TTGAGCACCAGAGGATCCACA 0.542 NaN 0 0 0 0.001855 0 14 116 ZSCAN22 342945 broad.mit.edu 37 19 58850597 58850597 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:58850597G>C uc002qsc.2 + 3 1528 c.1381G>C c.(1381-1383)GAG>CAG p.E461Q ZSCAN22_uc010yhz.1_3'UTR NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 461 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCACACGGGAGAGAAGCCTTA 0.542 NaN 0 0 0 0.004482 0 8 110 ZBTB45 84878 broad.mit.edu 37 19 59025544 59025544 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr19:59025544C>T uc002qtd.2 - 3 1705 c.1413G>A c.(1411-1413)AAG>AAA p.K471K SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qte.2_Silent_p.K471K|ZBTB45_uc002qtf.2_Silent_p.K471K NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 471 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TGAGCGAGCTCTTCTGCGTGA 0.682 NaN 0 0 0 0.001984 0 6 30 TMEM18 129787 broad.mit.edu 37 2 675513 675513 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:675513G>T uc002qwl.2 - 2 269 c.175C>A c.(175-177)CTA>ATA p.L59I TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 59 Helical; (Potential). cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) TACTCACCTAGACACAGAAAG 0.483 NaN 1 0 3.86212e-05 0.008291 4.61915e-05 9 113 SNTG2 54221 broad.mit.edu 37 2 1263181 1263181 + Missense_Mutation SNP C C G rs145354756 by1000genomes TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:1263181C>G uc002qwq.2 + 13 1173 c.1045C>G c.(1045-1047)CAC>GAC p.H349D SNTG2_uc010ewi.2_Missense_Mutation_p.H222D NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 349 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAGGACCTATCACCTCTGTGA 0.413 NaN 0 0 0 0.003755 0 30 64 COLEC11 78989 broad.mit.edu 37 2 3660949 3660949 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:3660949G>C uc002qya.2 + 3 327 c.179G>C c.(178-180)AGA>ACA p.R60T COLEC11_uc002qxz.2_Missense_Mutation_p.E31Q|COLEC11_uc002qyb.2_Intron|COLEC11_uc002qyc.2_Missense_Mutation_p.R60T|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.R34T|COLEC11_uc010ewq.2_Intron|COLEC11_uc010ewr.2_Missense_Mutation_p.R34T|COLEC11_uc010ews.2_Intron NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 60 collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CGGCCTGGAAGAGTCGGCCCC 0.647 NaN 0 0 0 0.000602 0 4 17 KLF11 8462 broad.mit.edu 37 2 10187909 10187909 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:10187909C>G uc002raf.1 + 3 607 c.445C>G c.(445-447)CTG>GTG p.L149V KLF11_uc010yjc.1_Missense_Mutation_p.L132V NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 149 VVARALS -> QWPDSD (in Ref. 3). apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GGCCAGAGCTCTGAGCGGGGG 0.612 NaN 0 0 0 0.00278 0 23 51 RRM2 6241 broad.mit.edu 37 2 10269373 10269373 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:10269373G>C uc002rah.2 + 10 1221 c.1030G>C c.(1030-1032)GAG>CAG p.E344Q NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 344 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) TTTCAGAGTAGAGAACCCATT 0.378 NaN 0 0 0 0.004482 0 9 53 GREB1 9687 broad.mit.edu 37 2 11756766 11756766 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:11756766C>G uc002rbk.1 + 21 3632 c.3332C>G c.(3331-3333)TCG>TGG p.S1111W GREB1_uc002rbp.1_Missense_Mutation_p.S109W NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1111 Ser-rich. 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) GGCTCTACCTCGGAGAAGAGA 0.413 NaN 0 0 0 0.00632 0 27 168 MYCN 4613 broad.mit.edu 37 2 16082244 16082244 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:16082244G>C uc002rci.2 + 2 358 c.58G>C c.(58-60)GAG>CAG p.E20Q MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E12Q NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 20 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCCAGACCTCGAGTTTGACTC 0.642 NaN A neuroblastoma 0 0 0 0.000602 0 5 41 HADHA 3030 broad.mit.edu 37 2 26414459 26414459 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:26414459C>G uc002rgy.2 - 19 2169 c.2039G>C c.(2038-2040)AGA>ACA p.R680T HADHA_uc010yks.1_Missense_Mutation_p.R593T NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 680 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) ATTCACAAATCTTGTCACCAG 0.542 NaN 0 0 0 0.007835 0 38 61 HADHB 3032 broad.mit.edu 37 2 26501592 26501592 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:26501592G>C uc002rgz.2 + 8 804 c.553G>C c.(553-555)GAT>CAT p.D185H HADHB_uc010ykv.1_Missense_Mutation_p.D163H|HADHB_uc010ykw.1_Missense_Mutation_p.D170H|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.D111H NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 185 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGATGCTTGATCTCAATAA 0.453 NaN 0 0 0 0.000978 0 12 81 PPP1CB 5500 broad.mit.edu 37 2 29016810 29016810 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:29016810G>C uc002rmg.2 + 8 986 c.826G>C c.(826-828)GAT>CAT p.D276H PPP1CB_uc010ymj.1_Missense_Mutation_p.D248H|PPP1CB_uc010yml.1_Missense_Mutation_p.D248H|PPP1CB_uc002rmh.2_Missense_Mutation_p.D276H|SPDYA_uc002rmi.2_5'UTR NM_206876 NP_996759 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta 276 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155) TGGCGAGTTTGATAATGCTGG 0.348 NaN 0 0 0 0.00333 0 25 53 ALK 238 broad.mit.edu 37 2 29519819 29519819 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:29519819G>A uc002rmy.2 - 9 2659 c.1752C>T c.(1750-1752)GTC>GTT p.V584V NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 584 MAM 2.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATAGGCGGCGACATGCCAGA 0.557 NaN T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 0 0 0 0.001368 0 12 38 BIRC6 57448 broad.mit.edu 37 2 32678919 32678919 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:32678919C>T uc010ezu.2 + 23 4796 c.4662C>T c.(4660-4662)TTC>TTT p.F1554F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1554 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AGGGTAGTTTCACATCTCTCA 0.383 NaN 0 0 0 0.00361 0 70 125 EIF2AK2 5610 broad.mit.edu 37 2 37374019 37374019 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:37374019C>G uc010ynh.1 - 4 774 c.217G>C c.(217-219)GAG>CAG p.E73Q EIF2AK2_uc010fab.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E73Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E73Q NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 73 DRBM 1. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) TTAAGTATCTCAACAGCTAAT 0.343 NaN 0 0 0 0.003954 0 26 64 SOS1 6654 broad.mit.edu 37 2 39249913 39249913 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39249913C>G uc002rrk.3 - 10 1697 c.1656G>C c.(1654-1656)AGG>AGC p.R552S SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.R166S|SOS1_uc002rrl.2_Missense_Mutation_p.R284S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 552 R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation).|R -> S (in NS4).|R -> K (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CATCAAGCATCCTTTCCAGTG 0.403 NaN Noonan_syndrome 0 0 0 0.008361 0 29 83 SOS1 6654 broad.mit.edu 37 2 39250197 39250197 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39250197C>T uc002rrk.3 - 10 1413 c.1372G>A c.(1372-1374)GAG>AAG p.E458K SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.E72K|SOS1_uc002rrl.2_Missense_Mutation_p.E190K NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 458 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) ATGTGTCTCTCATGTTTGGCT 0.388 NaN Noonan_syndrome 0 0 0 0.004878 0 37 75 MAP4K3 8491 broad.mit.edu 37 2 39477777 39477777 + Silent SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39477777A>G uc002rro.2 - 34 2758 c.2667T>C c.(2665-2667)GGT>GGC p.G889G MAP4K3_uc002rrp.2_Silent_p.G868G|MAP4K3_uc010yns.1_Silent_p.G442G NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 889 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TGTTTTCATGACCCGCCAGGA 0.378 NaN 0 0 0 0.00308 0 7 35 MAP4K3 8491 broad.mit.edu 37 2 39505625 39505625 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:39505625G>A uc002rro.2 - 24 1808 c.1717C>T c.(1717-1719)CAG>TAG p.Q573* MAP4K3_uc002rrp.2_Nonsense_Mutation_p.Q552*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.Q126* NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 573 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) ATCAAGTACTGATCTGAAATA 0.254 NaN 0 0 0 0.001984 0 6 37 PLEKHH2 130271 broad.mit.edu 37 2 43937240 43937240 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:43937240C>T uc010yny.1 + 12 2161 c.2078C>T c.(2077-2079)TCA>TTA p.S693L PLEKHH2_uc002rte.3_Missense_Mutation_p.S693L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S692L NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 693 Poly-Ser. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAAACTTGCTCATCTTCCAGT 0.398 NaN 0 0 0 0.008291 0 11 100 PLEKHH2 130271 broad.mit.edu 37 2 43992600 43992600 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:43992600C>T uc010yny.1 + 30 4428 c.4345C>T c.(4345-4347)CAG>TAG p.Q1449* NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1449 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAACTTCCATCAGCAAAAGGC 0.468 NaN 0 0 0 0.001786 0 27 53 SIX3 6496 broad.mit.edu 37 2 45169727 45169727 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:45169727C>T uc002run.1 + 1 691 c.484C>T c.(484-486)CAC>TAC p.H162Y NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 162 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAAGGAGTCTCACGGCAAGCT 0.662 NaN 0 0 0 0.001984 0 6 21 GPR75 10936 broad.mit.edu 37 2 54080974 54080974 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:54080974G>A uc002rxo.3 - 2 1191 c.920C>T c.(919-921)TCA>TTA p.S307L ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 307 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTTGATGGCTGATACGAGCTG 0.532 NaN 0 0 0 0.008291 0 11 41 RAB11FIP5 26056 broad.mit.edu 37 2 73339501 73339501 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:73339501G>A uc002siu.3 - 1 646 c.405C>T c.(403-405)TTC>TTT p.F135F NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 135 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GGCCTGCGCCGAAGACCTCGT 0.711 NaN 0 0 0 0.008871 0 17 22 RAB11FIP5 26056 broad.mit.edu 37 2 73339600 73339600 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:73339600G>A uc002siu.3 - 1 547 c.306C>T c.(304-306)TCC>TCT p.S102S NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 102 C2. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 AGGCGGCGGCGGAGCTCGCGG 0.751 NaN 0 0 0 0.001984 0 6 14 NAT8B 51471 broad.mit.edu 37 2 73928087 73928087 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:73928087C>G uc002sjk.1 - 2 381 c.346G>C c.(346-348)GAG>CAG p.E116Q NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 116 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 ACCACCTTCTCTTCAGATTCA 0.537 NaN 0 0 0 0.003163 0 14 68 BOLA3 388962 broad.mit.edu 37 2 74372361 74372361 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74372361C>G uc002skc.1 - 2 162 c.124G>C c.(124-126)GAA>CAA p.E42Q BOLA3_uc002skd.1_Missense_Mutation_p.E42Q|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank NM_212552 NP_997717 Q53S33 BOLA3_HUMAN bolA-like 3 isoform 1 42 extracellular region 0 GGAAACTTTTCTTTGAGAATT 0.478 NaN 0 0 0 0.006214 0 10 74 DCTN1 1639 broad.mit.edu 37 2 74598163 74598163 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74598163C>G uc002skx.2 - 9 1097 c.786G>C c.(784-786)AAG>AAC p.K262N DCTN1_uc002skv.2_Missense_Mutation_p.K128N|DCTN1_uc002sku.2_Missense_Mutation_p.K128N|DCTN1_uc002skw.1_Missense_Mutation_p.K238N|DCTN1_uc010ffd.2_Missense_Mutation_p.K242N|DCTN1_uc002sky.2_Missense_Mutation_p.K225N NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 262 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GCATTTTGCTCTTCCATTCCT 0.552 NaN 0 0 0 0.00361 0 59 373 LOXL3 84695 broad.mit.edu 37 2 74762786 74762786 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:74762786C>T uc002smp.1 - 8 1417 c.1345G>A c.(1345-1347)GAC>AAC p.D449N LOXL3_uc002smo.1_Missense_Mutation_p.D88N|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.D304N|LOXL3_uc010ffn.1_Missense_Mutation_p.D304N NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 449 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 GTCCCCCAGTCATCCCCACAG 0.662 NaN 0 0 0 0.00333 0 23 114 C2orf3 6936 broad.mit.edu 37 2 75915007 75915007 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:75915007C>G uc002sno.2 - 11 1766 c.1636G>C c.(1636-1638)GAT>CAT p.D546H C2orf3_uc010ffs.2_Missense_Mutation_p.D108H|C2orf3_uc002snn.2_Missense_Mutation_p.D377H|C2orf3_uc010fft.2_Missense_Mutation_p.D221H NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 546 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 ACTTTTTTATCTGAACTACTT 0.348 NaN 0 0 0 0.004482 0 8 55 KCMF1 56888 broad.mit.edu 37 2 85262250 85262250 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:85262250C>G uc002sox.3 + 3 640 c.296C>G c.(295-297)TCT>TGT p.S99C NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 99 C2H2-type. intracellular ligase activity|zinc ion binding ovary(2) 2 CATGTTACTTCTGAACATGCA 0.378 NaN 0 0 0 0.00499 0 16 24 VAMP5 10791 broad.mit.edu 37 2 85820206 85820206 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:85820206C>T uc002spu.1 + 3 360 c.277C>T c.(277-279)CTC>TTC p.L93F RNF181_uc002spv.1_5'Flank NM_006634 NP_006625 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 93 Helical; Anchor for type IV membrane protein; (Potential). cell differentiation|vesicle-mediated transport endomembrane system 0 GGTCGTCTTTCTCCCTCAGAG 0.592 NaN 0 0 0 0.003163 0 15 65 SEMA4C 54910 broad.mit.edu 37 2 97529515 97529515 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:97529515G>C uc002sxh.3 - 12 1507 c.1347C>G c.(1345-1347)CTC>CTG p.L449L SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.L502L NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 449 Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 TCACAGCCTTGAGCAGCCAGC 0.617 NaN 0 0 0 0.000602 0 4 49 TMEM131 23505 broad.mit.edu 37 2 98377308 98377308 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:98377308C>G uc002syh.3 - 37 5188 c.4959G>C c.(4957-4959)AAG>AAC p.K1653N TMEM131_uc002syg.2_Missense_Mutation_p.K33N NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1653 integral to membrane ovary(4)|central_nervous_system(2) 6 GGTTGCCGTTCTTGCCCGGGA 0.537 NaN 0 0 0 0.003163 0 15 69 GPR45 11250 broad.mit.edu 37 2 105859262 105859262 + Missense_Mutation SNP A A C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:105859262A>C uc002tco.1 + 1 1063 c.947A>C c.(946-948)AAG>ACG p.K316T NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 316 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 AGTTACCTCAAGTCCGTCTTC 0.547 NaN 0 0 0 0.007413 0 19 127 CBWD2 150472 broad.mit.edu 37 2 114220043 114220043 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:114220043G>A uc002tju.2 + 8 812 c.634G>A c.(634-636)GAT>AAT p.D212N CBWD2_uc010yxw.1_Missense_Mutation_p.D176N|CBWD2_uc002tjv.2_Missense_Mutation_p.D176N|CBWD2_uc010fkv.2_RNA NM_172003 NP_742000 Q8IUF1 CBWD2_HUMAN COBW domain-containing protein 2 212 ATP binding|protein binding 0 TCCAGAAGAAGATGTAAAGAA 0.323 NaN 0 0 0 0.002852 0 40 95 STEAP3 55240 broad.mit.edu 37 2 120003084 120003084 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:120003084G>C uc002tlp.2 + 3 169 c.12G>C c.(10-12)GAG>GAC p.E4D STEAP3_uc002tlq.2_Missense_Mutation_p.E14D|STEAP3_uc002tlr.2_Missense_Mutation_p.E4D|STEAP3_uc010fle.2_Missense_Mutation_p.E4D NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 4 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 TGCCAGAAGAGATGGACAAGC 0.587 NaN 0 0 0 0.001168 0 5 55 MYO7B 4648 broad.mit.edu 37 2 128388376 128388376 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:128388376G>C uc002top.2 + 35 4805 c.4752G>C c.(4750-4752)GAG>GAC p.E1584D MYO7B_uc002tor.1_Missense_Mutation_p.E437D NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1584 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) TGTCACCAGAGAAGAGGAAGC 0.637 NaN 0 0 0 0.000602 0 5 45 MCM6 4175 broad.mit.edu 37 2 136626327 136626327 + Silent SNP G G A rs34276971 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:136626327G>A uc002tuw.2 - 4 545 c.469C>T c.(469-471)CTG>TTG p.L157L NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 157 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCCAAGCACAGAAAAGTTCCG 0.517 NaN 0 0 0 0.00623 0 41 99 CXCR4 7852 broad.mit.edu 37 2 136872950 136872950 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:136872950C>T uc002tuz.2 - 2 643 c.548G>A c.(547-549)AGA>AAA p.R183K CXCR4_uc002tuy.2_Missense_Mutation_p.R187K|CXCR4_uc010fnk.2_Missense_Mutation_p.R168K NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 183 Extracellular. R->A: Reduced coreceptor activity for several HIV-1 isolates. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) ACAGATATATCTGTCATCTGC 0.507 NaN 0 0 0 0.001368 0 13 84 THSD7B 80731 broad.mit.edu 37 2 137852590 137852590 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:137852590G>A uc002tva.1 + 3 1005 c.1005G>A c.(1003-1005)CGG>CGA p.R335R THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.R225R NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GCAGGAGCCGGAACGTGAAGC 0.537 NaN 0 0 0 0.00308 0 7 47 LRP1B 53353 broad.mit.edu 37 2 141762977 141762977 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:141762977C>G uc002tvj.1 - 15 3402 c.2430G>C c.(2428-2430)TTG>TTC p.L810F LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 810 Extracellular (Potential).|EGF-like 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGGATAGCCAAGCAAAGTG 0.433 NaN TSP Lung(27;0.18) 0 0 0 0.006214 0 9 72 ARHGAP15 55843 broad.mit.edu 37 2 144194515 144194515 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:144194515G>C uc002tvm.3 + 8 758 c.607G>C c.(607-609)GAA>CAA p.E203Q ARHGAP15_uc010zbl.1_Missense_Mutation_p.E203Q|ARHGAP15_uc002tvn.2_5'UTR NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 203 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) AAGAAACCTGGAATTATTCAA 0.338 NaN 0 0 0 0.001368 0 11 38 ARHGAP15 55843 broad.mit.edu 37 2 144194548 144194548 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:144194548G>A uc002tvm.3 + 8 791 c.640G>A c.(640-642)GAA>AAA p.E214K ARHGAP15_uc010zbl.1_Missense_Mutation_p.E214K|ARHGAP15_uc002tvn.2_5'UTR NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 214 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) CTCTAGCACTGAATTGCTAAG 0.333 NaN 0 0 0 0.001984 0 6 39 STAM2 10254 broad.mit.edu 37 2 153006744 153006744 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:153006744C>T uc002tyc.3 - 2 391 c.41_splice c.e2-1 p.E14_splice STAM2_uc010foa.1_Splice_Site_p.E14_splice|STAM2_uc002tyd.2_Splice_Site_p.E14_splice NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) GTGGCTTTTTCTATAAAATAT 0.353 NaN 0 0 0 0.000602 0 4 29 BAZ2B 29994 broad.mit.edu 37 2 160182266 160182266 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:160182266C>A uc002uao.2 - 35 6459 c.6107G>T c.(6106-6108)AGA>ATA p.R2036I BAZ2B_uc002uap.2_Missense_Mutation_p.R2000I NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTCCATTTTTCTTTTCTTGAG 0.353 NaN 1 0 2.40579e-17 0.00623 3.03889e-17 39 84 GRB14 2888 broad.mit.edu 37 2 165349549 165349549 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:165349549G>C uc002ucl.2 - 14 2161 c.1620C>G c.(1618-1620)CTC>CTG p.L540L GRB14_uc010zcv.1_Silent_p.L453L|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 540 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 GGCTTGTCTAGAGAGCAATCC 0.353 NaN 0 0 0 0.006122 0 18 47 SCN2A 6326 broad.mit.edu 37 2 166198839 166198839 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166198839C>T uc002udc.2 + 15 2712 c.2422C>T c.(2422-2424)CTC>TTC p.L808F SCN2A_uc002udd.2_Missense_Mutation_p.L808F|SCN2A_uc002ude.2_Missense_Mutation_p.L808F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 808 II.|Helical; Name=S2 of repeat II; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGAAATGTTTCTCAAGATAAT 0.343 NaN 0 0 0 0.004656 0 24 51 SCN2A 6326 broad.mit.edu 37 2 166231393 166231393 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166231393G>C uc002udc.2 + 22 4461 c.4171G>C c.(4171-4173)GAG>CAG p.E1391Q SCN2A_uc002udd.2_Missense_Mutation_p.E1391Q|SCN2A_uc002ude.2_Missense_Mutation_p.E1391Q NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1391 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGCTCTCATTGAGAGCAATCA 0.378 NaN 0 0 0 0.002299 0 22 35 SCN1A 6323 broad.mit.edu 37 2 166898905 166898905 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:166898905C>G uc010zcz.1 - 12 2058 c.2040G>C c.(2038-2040)AAG>AAC p.K680N SCN1A_uc002udo.3_Missense_Mutation_p.K560N|SCN1A_uc010fpk.2_Missense_Mutation_p.K532N NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 691 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTGACCTTCTCTTTCTCATTT 0.368 NaN 0 0 0 0.00632 0 29 45 ITGA6 3655 broad.mit.edu 37 2 173355768 173355768 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:173355768G>A uc002uhp.1 + 21 2899 c.2696G>A c.(2695-2697)AGA>AAA p.R899K ITGA6_uc010zdy.1_Missense_Mutation_p.R780K|ITGA6_uc002uho.1_Missense_Mutation_p.R899K|ITGA6_uc010fqm.1_Missense_Mutation_p.R530K NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 938 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CACAACTCAAGAAAGAAACGG 0.308 NaN 0 0 0 0.003755 0 35 191 CIR1 9541 broad.mit.edu 37 2 175213338 175213338 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:175213338C>T uc002uim.2 - 10 1333 c.1240G>A c.(1240-1242)GAG>AAG p.E414K CIR1_uc002uin.2_Missense_Mutation_p.E288K|CIR1_uc002uio.2_Missense_Mutation_p.E241K|CIR1_uc002uip.2_Missense_Mutation_p.E303K NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 414 Arg/Ser-rich (RS domain). mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity large_intestine(1) 1 CTGCTTTGCTCTTCACCAGGA 0.507 NaN 0 0 0 0.007835 0 43 251 WIPF1 7456 broad.mit.edu 37 2 175436406 175436406 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:175436406G>C uc002uiy.2 - 6 1459 c.1127C>G c.(1126-1128)TCA>TGA p.S376* uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Nonsense_Mutation_p.S376*|WIPF1_uc010fqt.1_Nonsense_Mutation_p.S376*|WIPF1_uc002ujc.1_Nonsense_Mutation_p.S376*|WIPF1_uc002uiz.2_Nonsense_Mutation_p.S376*|WIPF1_uc002ujb.1_Nonsense_Mutation_p.S376*|WIPF1_uc010zep.1_Nonsense_Mutation_p.S376* NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 376 XRSGPXPPXP motif 2.|Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 TGTCATACCTGATCGGCCTGG 0.562 NaN 0 0 0 0.003954 0 22 135 TTC30B 150737 broad.mit.edu 37 2 178417039 178417039 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:178417039C>G uc002uln.2 - 1 486 c.453G>C c.(451-453)GAG>GAC p.E151D TTC30B_uc010zfc.1_5'UTR NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 151 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CGGTCTCATTCTCGCCCCCAC 0.582 NaN 0 0 0 0.00361 0 51 327 TTN 7273 broad.mit.edu 37 2 179455083 179455083 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:179455083C>T uc010zfg.1 - 253 53889 c.53665G>A c.(53665-53667)GAG>AAG p.E17889K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11584K|TTN_uc010zfi.1_Missense_Mutation_p.E11517K|TTN_uc010zfj.1_Missense_Mutation_p.E11392K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18816 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) TCTCTTGGCTCACCCTCTCCT 0.408 NaN 0 0 0 0.001855 0 14 103 TTN 7273 broad.mit.edu 37 2 179611886 179611886 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:179611886G>C uc002unb.2 - 46 15465 c.15241C>G c.(15241-15243)CTA>GTA p.L5081V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1188 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) TATCTCTCTAGAGTCTCTCCT 0.552 NaN 0 0 0 0.008361 0 30 69 DNAH7 56171 broad.mit.edu 37 2 196718190 196718190 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:196718190C>T uc002utj.3 - 46 8759 c.8658G>A c.(8656-8658)GAG>GAA p.E2886E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2886 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATCGAGTTTTCTCACCTCCAA 0.463 NaN 0 0 0 0.004482 0 9 54 STK17B 9262 broad.mit.edu 37 2 197010766 197010766 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:197010766C>T uc002utk.2 - 4 673 c.349G>A c.(349-351)GAA>AAA p.E117K STK17B_uc010fsh.2_Missense_Mutation_p.E117K NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 117 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) CTGAAAATTTCTCCACCTGCA 0.313 NaN 0 0 0 0.001168 0 6 9 SATB2 23314 broad.mit.edu 37 2 200213701 200213701 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:200213701G>C uc002uuy.1 - 7 1713 c.896C>G c.(895-897)TCT>TGT p.S299C SATB2_uc010fsq.1_Missense_Mutation_p.S181C|SATB2_uc002uuz.1_Missense_Mutation_p.S299C|SATB2_uc002uva.1_Missense_Mutation_p.S299C|SATB2_uc002uvb.1_Missense_Mutation_p.S42C NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 299 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 AAGCTGGGGAGAAAGAAGACC 0.507 NaN 0 0 0 0.00333 0 23 124 C2orf60 129450 broad.mit.edu 37 2 200803731 200803731 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:200803731G>C uc002uvi.3 - 5 677 c.411C>G c.(409-411)TTC>TTG p.F137L C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN hypothetical protein LOC129450 137 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding 0 CCTCTTTGAAGAATTCTGGAA 0.308 NaN 0 0 0 0.000602 0 5 36 ALS2CR8 79800 broad.mit.edu 37 2 203839184 203839184 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:203839184G>A uc002uzo.2 + 12 1739 c.1459G>A c.(1459-1461)GAT>AAT p.D487N ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zib.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zic.1_Missense_Mutation_p.D399N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.D487N NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 487 large_intestine(1)|ovary(1) 2 GAGAAATGGAGATACGGTATA 0.323 NaN 0 0 0 0.004007 0 15 37 ALS2CR8 79800 broad.mit.edu 37 2 203842024 203842024 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:203842024C>G uc002uzo.2 + 13 1807 c.1527C>G c.(1525-1527)CTC>CTG p.L509L ALS2CR8_uc010zia.1_Silent_p.L433L|ALS2CR8_uc010zib.1_Silent_p.L433L|ALS2CR8_uc010zic.1_Silent_p.L421L|ALS2CR8_uc002uzp.2_Silent_p.L509L NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 509 large_intestine(1)|ovary(1) 2 GGAATATTCTCAAAGAGACCA 0.269 NaN 0 0 0 0.005443 0 26 118 DYTN 391475 broad.mit.edu 37 2 207530676 207530676 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:207530676C>A uc002vbr.1 - 10 1175 c.1058G>T c.(1057-1059)CGA>CTA p.R353L NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 353 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTTTCAAATCGACAAATTCT 0.393 NaN 1 0 3.32936e-07 0.006122 4.03219e-07 17 80 MDH1B 130752 broad.mit.edu 37 2 207615685 207615685 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:207615685C>T uc002vbs.2 - 6 1080 c.1025G>A c.(1024-1026)CGC>CAC p.R342H MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R342H|MDH1B_uc010fuj.2_Missense_Mutation_p.R244H|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 342 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TAAAACAGGGCGTGAATAATG 0.328 NaN 0 0 0 0.000978 0 12 46 C2orf67 151050 broad.mit.edu 37 2 210993855 210993855 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:210993855C>G uc002vds.2 - 3 1338 c.1130G>C c.(1129-1131)CGA>CCA p.R377P C2orf67_uc002vdt.2_Missense_Mutation_p.R377P|C2orf67_uc002vdw.2_Missense_Mutation_p.R377P|C2orf67_uc002vdv.2_Missense_Mutation_p.R377P|C2orf67_uc002vdx.1_Missense_Mutation_p.R377P NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 377 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) GCTGCCAACTCGTGCTCTGTC 0.433 NaN 0 0 0 0.001855 0 14 114 IKZF2 22807 broad.mit.edu 37 2 213872434 213872434 + Missense_Mutation SNP C C G rs76325907 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:213872434C>G uc002vem.2 - 8 1400 c.1231G>C c.(1231-1233)GAA>CAA p.E411Q IKZF2_uc010fuu.2_Missense_Mutation_p.E266Q|IKZF2_uc002vej.2_Missense_Mutation_p.E358Q|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.E337Q|IKZF2_uc002vel.2_Missense_Mutation_p.E332Q|IKZF2_uc010fuw.2_Missense_Mutation_p.E185Q|IKZF2_uc010fux.2_Missense_Mutation_p.E185Q|IKZF2_uc010fuy.2_Missense_Mutation_p.E339Q|IKZF2_uc002ven.2_Missense_Mutation_p.E385Q|IKZF2_uc002vei.2_Missense_Mutation_p.E189Q NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGGCTGCTTTCTGAGTCAGTG 0.507 NaN 0 0 0 0.00361 0 86 171 ATIC 471 broad.mit.edu 37 2 216213870 216213870 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:216213870C>T uc002vex.3 + 15 1731 c.1557C>T c.(1555-1557)CTC>CTT p.L519L ATIC_uc010zjo.1_Silent_p.L460L|ATIC_uc002vey.3_Silent_p.L518L NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 519 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CTGAGTTACTCACTGAGGCAG 0.448 NaN T ALK ALCL 0 0 0 0.003755 0 34 87 FN1 2335 broad.mit.edu 37 2 216273063 216273063 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:216273063C>A uc002vfa.2 - 16 2652 c.2386G>T c.(2386-2388)GAT>TAT p.D796Y FN1_uc002vfb.2_Missense_Mutation_p.D796Y|FN1_uc002vfc.2_Missense_Mutation_p.D796Y|FN1_uc002vfd.2_Missense_Mutation_p.D796Y|FN1_uc002vfe.2_Missense_Mutation_p.D796Y|FN1_uc002vff.2_Missense_Mutation_p.D796Y|FN1_uc002vfg.2_Missense_Mutation_p.D796Y|FN1_uc002vfh.2_Missense_Mutation_p.D796Y|FN1_uc002vfi.2_Missense_Mutation_p.D796Y|FN1_uc002vfj.2_Missense_Mutation_p.D796Y NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 796 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTCCCCATCCTCAGATATC 0.408 NaN 1 0 1.22574e-08 0.002299 1.49836e-08 24 67 RNF25 64320 broad.mit.edu 37 2 219532976 219532976 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219532976G>A uc002vit.2 - 3 293 c.205C>T c.(205-207)CAG>TAG p.Q69* RNF25_uc010fvw.2_5'UTR NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 69 RWD. positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGGGACCTGAAGCACCAGA 0.547 NaN 0 0 0 0.00333 0 26 56 TTLL4 9654 broad.mit.edu 37 2 219603658 219603658 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219603658G>A uc002viy.2 + 3 1629 c.1259G>A c.(1258-1260)AGC>AAC p.S420N TTLL4_uc010zkl.1_Missense_Mutation_p.S255N|TTLL4_uc010fvx.2_Missense_Mutation_p.S420N NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 420 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AAGCGTATCAGCATTCACCTC 0.532 NaN 0 0 0 0.007291 0 29 95 WNT6 7475 broad.mit.edu 37 2 219738481 219738481 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219738481G>C uc002vjc.1 + 4 1227 c.1012G>C c.(1012-1014)GAG>CAG p.E338Q NM_006522 NP_006513 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, 338 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(2)|skin(1) 3 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGCTCGAAGAGAACTGCCT 0.711 NaN 0 0 0 0.004672 0 3 14 IHH 3549 broad.mit.edu 37 2 219920403 219920403 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:219920403C>T uc002vjo.1 - 3 762 c.762G>A c.(760-762)CTG>CTA p.L254L NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 254 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAGGCTCTCAGCCTGTGAG 0.652 NaN 0 0 0 0.007413 0 20 25 PAX3 5077 broad.mit.edu 37 2 223065952 223065952 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:223065952G>C uc002vmt.1 - 10 1825 c.1459C>G c.(1459-1461)CAA>GAA p.Q487E PAX3_uc002vmy.1_3'UTR|PAX3_uc002vmv.1_3'UTR|PAX3_uc002vmw.1_Missense_Mutation_p.F404L|PAX3_uc002vmx.1_3'UTR NM_181459 NP_852124 P23760 PAX3_HUMAN paired box 3 isoform PAX3e Error:Variant_position_missing_in_P23760_after_alignment apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAAGGATTTGAAACCAACTA 0.408 NaN T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 0 0 0 0.000978 0 10 43 DOCK10 55619 broad.mit.edu 37 2 225642870 225642870 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:225642870G>C uc010fwz.1 - 51 6026 c.5787C>G c.(5785-5787)ATC>ATG p.I1929M DOCK10_uc002vob.2_Missense_Mutation_p.I1923M|DOCK10_uc002voa.2_Missense_Mutation_p.I585M NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1929 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGGAATCCTGGATTATCTTCA 0.353 NaN 0 0 0 0.004482 0 8 30 COL4A3 1285 broad.mit.edu 37 2 228174028 228174028 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:228174028C>T uc002vom.1 + 50 4911 c.4749C>T c.(4747-4749)TTC>TTT p.F1583F COL4A3_uc002von.1_Silent_p.F1583F|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1583 Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GATTTTCATTCATCATGGTGA 0.473 NaN 0 0 0 0.001168 0 5 22 SPHKAP 80309 broad.mit.edu 37 2 228883230 228883230 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:228883230C>T uc002vpq.2 - 7 2387 c.2340G>A c.(2338-2340)ACG>ACA p.T780T SPHKAP_uc002vpp.2_Silent_p.T780T|SPHKAP_uc010zlx.1_Silent_p.T780T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 780 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGACAAGACTCGTGTTGTGTG 0.502 NaN 0 0 0 0.00361 0 46 124 GPR55 9290 broad.mit.edu 37 2 231775629 231775629 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:231775629C>T uc002vrg.2 - 2 242 c.49G>A c.(49-51)GAG>AAG p.E17K GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.E17K NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 17 Extracellular (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) TTCATCAGCTCGTTGACACCG 0.527 NaN 0 0 0 0.004007 0 17 75 DGKD 8527 broad.mit.edu 37 2 234343105 234343105 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:234343105C>T uc002vui.1 + 4 440 c.428C>T c.(427-429)ACT>ATT p.T143I DGKD_uc002vuj.1_Missense_Mutation_p.T99I|DGKD_uc010fyh.1_Missense_Mutation_p.T10I|DGKD_uc002vuk.1_Missense_Mutation_p.T10I NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 143 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCATTAAAGACTGTGCAGAAC 0.443 NaN 0 0 0 0.00245 0 15 93 GPC1 2817 broad.mit.edu 37 2 241404929 241404929 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:241404929G>C uc002vyw.3 + 8 1529 c.1308G>C c.(1306-1308)CAG>CAC p.Q436H NM_002081 NP_002072 P35052 GPC1_HUMAN glypican 1 precursor 436 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) TGGCCAACCAGATCAACAACC 0.627 NaN 0 0 0 0.000248 0 4 42 SEPT2 4735 broad.mit.edu 37 2 242285646 242285646 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:242285646G>C uc002wbc.2 + 11 1329 c.908G>C c.(907-909)AGA>ACA p.R303T SEPT2_uc002wbd.2_Missense_Mutation_p.R303T|SEPT2_uc002wbf.2_Missense_Mutation_p.R303T|SEPT2_uc002wbg.2_Missense_Mutation_p.R303T|SEPT2_uc002wbh.2_Missense_Mutation_p.R313T|SEPT2_uc010zop.1_Missense_Mutation_p.R338T NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 303 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CGTTCTGAGAGACTCAAGAGA 0.517 NaN 0 0 0 0.008291 0 11 24 PDCD1 5133 broad.mit.edu 37 2 242794494 242794494 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:242794494C>T uc002wcq.3 - 3 516 c.448G>A c.(448-450)GAA>AAA p.E150K PDCD1_uc010fzs.2_Intron|PDCD1_uc010fzt.2_RNA NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 150 Extracellular (Potential). apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GTGGGCACTTCTGCCCTTCTC 0.677 NaN 0 0 0 0.00499 0 15 25 ANGPT4 51378 broad.mit.edu 37 20 854974 854974 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:854974G>C uc002wei.2 - 8 1407 c.1304C>G c.(1303-1305)TCA>TGA p.S435* ANGPT4_uc010zpn.1_Intron NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 435 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 GTCGTTGTCTGAGTCAAGGGT 0.612 NaN 0 0 0 0.005443 0 26 90 NSFL1C 55968 broad.mit.edu 37 20 1447415 1447415 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:1447415C>A uc002wfc.2 - 1 1003 c.55G>T c.(55-57)GAG>TAG p.E19* NSFL1C_uc002wfd.2_5'UTR|NSFL1C_uc002wfe.2_Nonsense_Mutation_p.E19*|NSFL1C_uc002wff.2_RNA NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 19 chromosome|Golgi stack|nucleus lipid binding|protein binding 0 CGGTCCTCCTCGGCGCCCGTC 0.746 NaN 1 0 0.00024832 0.000248 0.000295521 3 8 CPXM1 56265 broad.mit.edu 37 20 2776510 2776510 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:2776510C>A uc002wgu.2 - 11 1519 c.1455G>T c.(1453-1455)TGG>TGT p.W485C CPXM1_uc010gas.2_Missense_Mutation_p.W485C NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 485 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 TCCGCTTCATCCACTTGATTA 0.637 NaN 1 0 1.96292e-10 0.001523 2.43673e-10 21 70 ZNF133 7692 broad.mit.edu 37 20 18286394 18286394 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:18286394C>T uc010gcq.2 + 3 369 c.64C>T c.(64-66)CAA>TAA p.Q22* ZNF133_uc010zrv.1_Nonsense_Mutation_p.Q25*|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Nonsense_Mutation_p.Q22*|ZNF133_uc010gcs.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Nonsense_Mutation_p.Q22* NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 22 KRAB. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 GAGCCCTGCTCAAAGGACTCT 0.512 NaN 0 0 0 0.002096 0 30 69 C20orf26 26074 broad.mit.edu 37 20 20177312 20177312 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:20177312C>G uc002wru.2 + 16 1765 c.1689C>G c.(1687-1689)CTC>CTG p.L563L C20orf26_uc010zse.1_Silent_p.L543L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 563 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) ACTTTGCCCTCAACCCCATTT 0.463 NaN 0 0 0 0.002836 0 34 97 THBD 7056 broad.mit.edu 37 20 23028421 23028421 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:23028421C>T uc002wss.2 - 1 1881 c.1721G>A c.(1720-1722)AGA>AAA p.R574K THBD_uc002wst.1_RNA NM_000361 NP_000352 P07204 TRBM_HUMAN thrombomodulin precursor 574 Cytoplasmic (Potential). blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity 0 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CGCTCAGAGTCTCTGCGGCGT 0.647 NaN 0 0 0 0.001168 0 6 8 NCOA6 23054 broad.mit.edu 37 20 33370146 33370146 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33370146C>G uc002xav.2 - 4 2584 c.13G>C c.(13-15)GAC>CAC p.D5H NCOA6_uc002xaw.2_Missense_Mutation_p.D5H|NCOA6_uc010gew.1_Missense_Mutation_p.D5H NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 5 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 TTTGGAAGGTCATCCAAAACC 0.368 NaN 0 0 0 0.001855 0 14 47 PROCR 10544 broad.mit.edu 37 20 33762609 33762609 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33762609G>A uc002xbt.2 + 2 359 c.175G>A c.(175-177)GAA>AAA p.E59K EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.E96K NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 59 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GCACGTGCTGGAAGGCCCAGA 0.617 NaN 0 0 0 0.005443 0 27 75 PROCR 10544 broad.mit.edu 37 20 33762683 33762683 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33762683G>C uc002xbt.2 + 2 433 c.249G>C c.(247-249)CAG>CAC p.Q83H EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.Q120H NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 83 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CGCGCACGCAGAGTGGCCTGC 0.637 NaN 0 0 0 0.004482 0 9 14 PROCR 10544 broad.mit.edu 37 20 33764071 33764071 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33764071G>A uc002xbt.2 + 3 607 c.423G>A c.(421-423)GTG>GTA p.V141V EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.V178V NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 141 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GCTCCTTTGTGAGTTTCCGGC 0.602 NaN 0 0 0 0.00874 0 39 120 UQCC 55245 broad.mit.edu 37 20 33891806 33891806 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:33891806G>A uc002xcd.2 - 10 899 c.832C>T c.(832-834)CTA>TTA p.L278L UQCC_uc010zuy.1_Silent_p.L179L|UQCC_uc010zuz.1_Silent_p.L123L|UQCC_uc010zva.1_Silent_p.L141L|UQCC_uc002xce.2_Silent_p.L251L|UQCC_uc002xcg.2_Silent_p.L144L|UQCC_uc010gfb.2_Silent_p.L252L|UQCC_uc010zvb.1_Silent_p.L210L|UQCC_uc002xcf.2_Silent_p.L166L|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.L91L NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 278 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTCTCCACTAGAGGGCGCCAG 0.607 NaN OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 43 96 CPNE1 8904 broad.mit.edu 37 20 34214245 34214245 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:34214245G>A uc002xdf.2 - 18 1895 c.1532C>T c.(1531-1533)TCA>TTA p.S511L CPNE1_uc002xdc.2_Missense_Mutation_p.S173L|CPNE1_uc010zvj.1_Missense_Mutation_p.S516L|CPNE1_uc002xde.2_Missense_Mutation_p.S487L|CPNE1_uc002xdg.2_Missense_Mutation_p.S455L|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S511L|CPNE1_uc002xdi.2_Missense_Mutation_p.S511L|CPNE1_uc002xdj.2_Missense_Mutation_p.S511L|CPNE1_uc002xdk.2_Missense_Mutation_p.S511L|CPNE1_uc002xdl.2_Missense_Mutation_p.S511L|CPNE1_uc002xdm.2_Missense_Mutation_p.S511L NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 511 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGAAGTATGAGACCAGTTG 0.622 NaN 0 0 0 0.002852 0 43 141 EPB41L1 2036 broad.mit.edu 37 20 34776319 34776319 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:34776319C>T uc002xfb.2 + 9 1095 c.924C>T c.(922-924)CTC>CTT p.L308L EPB41L1_uc002xeu.2_Silent_p.L246L|EPB41L1_uc010zvo.1_Silent_p.L308L|EPB41L1_uc002xev.2_Silent_p.L308L|EPB41L1_uc002xew.2_Silent_p.L211L|EPB41L1_uc002xex.2_Silent_p.L277L|EPB41L1_uc002xey.2_Silent_p.L235L|EPB41L1_uc002xez.2_Silent_p.L246L NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 308 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) ATGGCCTGCTCATCTACCGGG 0.562 NaN 0 0 0 0.005443 0 27 100 CTNNBL1 56259 broad.mit.edu 37 20 36431360 36431360 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:36431360G>C uc010zvw.1 + 12 1214 c.1123G>C c.(1123-1125)GAC>CAC p.D375H CTNNBL1_uc002xhh.2_Missense_Mutation_p.D188H|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.D123H NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 375 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) TAAGTTTGTTGACATTCTTGG 0.483 NaN 0 0 0 0.003954 0 25 81 DHX35 60625 broad.mit.edu 37 20 37662928 37662928 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:37662928G>C uc002xjh.2 + 21 2046 c.2035G>C c.(2035-2037)GAG>CAG p.E679Q DHX35_uc010zwa.1_Missense_Mutation_p.E524Q|DHX35_uc010zwb.1_Missense_Mutation_p.E524Q|DHX35_uc010zwc.1_Missense_Mutation_p.E648Q NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 679 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTGGCTGTTGGAGCTGGCTCC 0.448 NaN 0 0 0 0.005524 0 33 78 DHX35 60625 broad.mit.edu 37 20 37662949 37662949 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:37662949C>G uc002xjh.2 + 21 2067 c.2056C>G c.(2056-2058)CAA>GAA p.Q686E DHX35_uc010zwa.1_Missense_Mutation_p.Q531E|DHX35_uc010zwb.1_Missense_Mutation_p.Q531E|DHX35_uc010zwc.1_Missense_Mutation_p.Q655E NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 686 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) ACACTTTTATCAACAAGGAAC 0.448 NaN 0 0 0 0.005443 0 25 74 ZHX3 23051 broad.mit.edu 37 20 39832342 39832342 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:39832342G>A uc002xjs.1 - 3 1593 c.1215C>T c.(1213-1215)CTC>CTT p.L405L ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.L405L|ZHX3_uc002xjt.1_Silent_p.L405L|ZHX3_uc002xju.1_Silent_p.L405L|ZHX3_uc002xjv.1_Silent_p.L405L|ZHX3_uc002xjw.1_Silent_p.L405L|ZHX3_uc010ggg.1_Silent_p.L405L NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 405 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CGGCCTGGATGAGATGCTGGA 0.542 NaN 0 0 0 0.003954 0 24 100 C20orf111 51526 broad.mit.edu 37 20 42825868 42825868 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:42825868C>G uc002xlk.2 - 4 840 c.703G>C c.(703-705)GAG>CAG p.E235Q NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 235 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GAGTAGTCCTCAAGTGTGGAT 0.522 NaN 0 0 0 0.006214 0 10 60 MMP9 4318 broad.mit.edu 37 20 44642135 44642135 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:44642135C>A uc002xqz.2 + 9 1591 c.1572C>A c.(1570-1572)ATC>ATA p.I524I NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 524 Hemopexin-like 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TCGACGCCATCGCGGAGATTG 0.507 NaN OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 4.3838e-07 0.001855 5.30031e-07 12 19 ZMYND8 23613 broad.mit.edu 37 20 45850058 45850058 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:45850058C>A uc002xta.1 - 20 3518 c.3264G>T c.(3262-3264)GGG>GGT p.G1088G ZMYND8_uc010ghq.1_Silent_p.G719G|ZMYND8_uc010ghr.1_Silent_p.G990G|ZMYND8_uc002xst.1_Silent_p.G970G|ZMYND8_uc002xsu.1_Silent_p.G961G|ZMYND8_uc002xsv.1_Silent_p.G1016G|ZMYND8_uc002xsw.1_Silent_p.G794G|ZMYND8_uc002xsx.1_Silent_p.G794G|ZMYND8_uc002xsy.1_Silent_p.G1017G|ZMYND8_uc002xsz.1_Silent_p.G979G|ZMYND8_uc010zxy.1_Silent_p.G1115G|ZMYND8_uc002xtb.1_Silent_p.G1062G|ZMYND8_uc002xss.2_Silent_p.G1088G|ZMYND8_uc010zxz.1_Silent_p.G956G|ZMYND8_uc002xtc.1_Silent_p.G1062G|ZMYND8_uc002xtd.1_Silent_p.G1037G|ZMYND8_uc002xte.1_Silent_p.G1042G|ZMYND8_uc010zya.1_Silent_p.G1088G|ZMYND8_uc002xtf.1_Silent_p.G1108G|ZMYND8_uc002xsr.1_Silent_p.G187G NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1088 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCGAGGAGCTCCCCTGGGAGG 0.547 NaN 1 0 3.6726e-16 0.003954 4.62286e-16 27 43 NFATC2 4773 broad.mit.edu 37 20 50140246 50140246 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:50140246G>T uc002xwd.2 - 2 754 c.534C>A c.(532-534)TTC>TTA p.F178L NFATC2_uc002xwc.2_Missense_Mutation_p.F178L|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.F158L|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.F158L NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 178 Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TGTCAGAAATGAAGCTGGCAG 0.647 NaN 1 0 6.94344e-10 0.006122 8.58245e-10 18 57 C20orf85 128602 broad.mit.edu 37 20 56728648 56728648 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:56728648G>C uc002xyv.2 + 2 155 c.117G>C c.(115-117)CAG>CAC p.Q39H NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 39 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) ACTGGCCCCAGAACTGGGGGT 0.433 NaN 0 0 0 0.007291 0 28 91 NPEPL1 79716 broad.mit.edu 37 20 57268911 57268911 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:57268911C>T uc010zzs.1 + 2 364 c.269C>T c.(268-270)TCG>TTG p.S90L NPEPL1_uc010zzr.1_Missense_Mutation_p.S42L|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.S62L|NPEPL1_uc002xzp.2_5'UTR NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 90 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) AACAGCCCCTCGGCCGCCCAC 0.682 NaN 0 0 0 0.008291 0 10 47 DIDO1 11083 broad.mit.edu 37 20 61526493 61526493 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:61526493C>G uc002ydr.1 - 9 2503 c.2239G>C c.(2239-2241)GAG>CAG p.E747Q DIDO1_uc002yds.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydt.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydu.1_Missense_Mutation_p.E747Q NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 747 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GAGATTTCCTCACGCAGAACA 0.413 NaN 0 0 0 0.00361 0 66 191 PRIC285 85441 broad.mit.edu 37 20 62198551 62198551 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198551G>C uc002yfm.2 - 7 3052 c.2160C>G c.(2158-2160)CTC>CTG p.L720L PRIC285_uc002yfl.1_Silent_p.L151L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 720 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) AGCACAGGAAGAGGCGGTGCA 0.677 NaN 0 0 0 0.001368 0 12 49 PRIC285 85441 broad.mit.edu 37 20 62198716 62198716 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198716G>C uc002yfm.2 - 7 2887 c.1995C>G c.(1993-1995)CTC>CTG p.L665L PRIC285_uc002yfl.1_Silent_p.L96L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 665 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCTCATCGATGAGAATGTGGG 0.706 NaN 0 0 0 0.004672 0 3 7 PRIC285 85441 broad.mit.edu 37 20 62198913 62198913 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62198913G>C uc002yfm.2 - 7 2690 c.1798C>G c.(1798-1800)CCT>GCT p.P600A PRIC285_uc002yfl.1_Missense_Mutation_p.P31A NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 600 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) ACACGGAGAGGAGTGGCCTCG 0.667 NaN 0 0 0 0.000602 0 4 8 TNFRSF6B 8771 broad.mit.edu 37 20 62329778 62329778 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62329778G>A uc002yfy.2 + 7 1199 c.765G>A c.(763-765)CTG>CTA p.L255L RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.L255L NM_032945 NP_116563 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, 255 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CCTTGCAGCTGAAGCTGCGTC 0.746 NaN 0 0 0 0.006214 0 9 14 ARFRP1 10139 broad.mit.edu 37 20 62331869 62331869 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr20:62331869C>T uc002yga.2 - 7 1099 c.532G>A c.(532-534)GAG>AAG p.E178K ARFRP1_uc002ygc.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 178 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) TCGATGCCCTCGCGCACCCCT 0.701 NaN 0 0 0 0.006122 0 18 55 NCAM2 4685 broad.mit.edu 37 21 22658708 22658708 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:22658708G>A uc002yld.1 + 4 706 c.457G>A c.(457-459)GAG>AAG p.E153K NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.E178K NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 153 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTATCATAATGAGGAAGTCAC 0.388 NaN 0 0 0 0.000978 0 9 63 GRIK1 2897 broad.mit.edu 37 21 30927614 30927614 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:30927614T>C uc002yno.1 - 16 2830 c.2366A>G c.(2365-2367)TAC>TGC p.Y789C GRIK1_uc002ynn.2_Missense_Mutation_p.Y774C|GRIK1_uc011acs.1_Missense_Mutation_p.Y789C|GRIK1_uc011act.1_Missense_Mutation_p.Y650C NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 789 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTATCCCGGTAAGGAGAACC 0.403 NaN 0 0 0 0.006122 0 18 93 TCP10L 140290 broad.mit.edu 37 21 33956596 33956596 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:33956596C>G uc002ypw.3 - 2 135 c.19G>C c.(19-21)GAG>CAG p.E7Q C21orf59_uc002ypx.1_Intron|C21orf59_uc002ypy.1_Intron|C21orf59_uc002ypz.1_Intron NM_144659 NP_653260 Q9NV44 CU077_HUMAN T-complex 10A-2 Error:Variant_position_missing_in_Q9NV44_after_alignment 0 TCCCTGGCCTCGAGTTGACCT 0.647 NaN 0 0 0 0.00245 0 14 36 ITSN1 6453 broad.mit.edu 37 21 35183344 35183344 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:35183344G>A uc002yta.1 + 21 2653 c.2385G>A c.(2383-2385)TGG>TGA p.W795* DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmg.2_Nonsense_Mutation_p.W753*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Nonsense_Mutation_p.W795*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.W674*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.W790*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.W753*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Nonsense_Mutation_p.W729*|ITSN1_uc002ytf.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 795 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 AGACAGGGTGGTTCCCTGCAA 0.483 NaN 0 0 0 0.008871 0 21 150 CLDN14 23562 broad.mit.edu 37 21 37833718 37833718 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:37833718G>A uc002yvk.1 - 2 418 c.276C>T c.(274-276)GGC>GGT p.G92G CLDN14_uc002yvn.1_Silent_p.G92G|CLDN14_uc002yvo.1_Silent_p.G92G|CLDN14_uc002yvl.1_Silent_p.G92G|CLDN14_uc002yvm.1_Silent_p.G92G NM_012130 NP_036262 O95500 CLD14_HUMAN claudin 14 92 Helical; (Potential). calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 CGCAGGCTATGCCCGAGAGCA 0.662 NaN 0 0 0 0.004656 0 26 36 RIPK4 54101 broad.mit.edu 37 21 43171292 43171292 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:43171292C>G uc002yzn.1 - 3 636 c.588G>C c.(586-588)AAG>AAC p.K196N NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 196 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AGAGCCGGCTCTTCTCCCTGA 0.602 NaN 0 0 0 0.001984 0 7 79 TRPM2 7226 broad.mit.edu 37 21 45838307 45838307 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr21:45838307G>C uc002zet.1 + 23 3543 c.3330G>C c.(3328-3330)AAG>AAC p.K1110N TRPM2_uc002zeu.1_Missense_Mutation_p.K1110N|TRPM2_uc002zew.1_Missense_Mutation_p.K1110N|TRPM2_uc010gpt.1_Missense_Mutation_p.K1110N|TRPM2_uc002zex.1_Missense_Mutation_p.K896N|TRPM2_uc002zey.1_Missense_Mutation_p.K623N|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1110 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCCTGACAGAGAACAAGCTGG 0.642 NaN 0 0 0 0.00308 0 7 57 CECR5 27440 broad.mit.edu 37 22 17624010 17624010 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:17624010C>T uc002zmf.2 - 5 577 c.549G>A c.(547-549)AGG>AGA p.R183R CECR5_uc002zmd.2_5'Flank|CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Silent_p.R46R|CECR5_uc002zmh.2_Silent_p.R153R NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 183 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) GGAAGTCATTCCTCGGGAGGG 0.567 NaN 0 0 0 0.004007 0 16 52 CDC45 8318 broad.mit.edu 37 22 19495340 19495340 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:19495340G>C uc002zpr.2 + 12 1084 c.1008G>C c.(1006-1008)TTG>TTC p.L336F CDC45_uc011agz.1_Missense_Mutation_p.L331F|CDC45_uc011aha.1_Missense_Mutation_p.L368F|CDC45_uc002zps.2_Missense_Mutation_p.L336F|CDC45_uc002zpt.2_Missense_Mutation_p.L290F NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 336 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 ACATCTCCTTGAAGGAGAATT 0.443 NaN 0 0 0 0.00361 0 50 95 RTN4R 65078 broad.mit.edu 37 22 20229926 20229926 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:20229926C>T uc002zrv.2 - 2 931 c.730G>A c.(730-732)GAG>AAG p.E244K RTN4R_uc002zru.2_Missense_Mutation_p.E16K NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor precursor 244 LRR 8. axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity 0 Colorectal(54;0.0993) GCCAGGGCCTCAGTGGGCAGC 0.642 NaN 0 0 0 0.008871 0 19 32 SERPIND1 3053 broad.mit.edu 37 22 21138315 21138315 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:21138315G>A uc002ztb.1 + 3 1012 c.945G>A c.(943-945)CTG>CTA p.L315L PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L343L NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 315 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) ACTTCCGGCTGAATGAGAGAG 0.493 NaN OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 86 184 MTMR3 8897 broad.mit.edu 37 22 30394779 30394779 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:30394779G>C uc003agv.3 + 8 818 c.490G>C c.(490-492)GAG>CAG p.E164Q MTMR3_uc003agu.3_Missense_Mutation_p.E164Q|MTMR3_uc003agw.3_Missense_Mutation_p.E164Q NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 164 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) GTTTAAAAACGAGGTGGAGAG 0.408 NaN 0 0 0 0.001168 0 6 21 TCN2 6948 broad.mit.edu 37 22 31011378 31011378 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:31011378G>C uc003aip.1 + 5 829 c.671G>C c.(670-672)AGA>ACA p.R224T TCN2_uc003aiq.1_Missense_Mutation_p.R220T|TCN2_uc003air.1_Missense_Mutation_p.R197T NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 224 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGCCATCAGAACAGTGCGA 0.562 NaN 0 0 0 0.003271 0 34 78 DEPDC5 9681 broad.mit.edu 37 22 32188758 32188758 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:32188758C>G uc003als.2 + 12 864 c.722C>G c.(721-723)TCA>TGA p.S241* DEPDC5_uc011als.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.S241*|DEPDC5_uc003alr.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alt.1_Nonsense_Mutation_p.S213* NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 241 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AACCGAGCCTCAATTCGACAG 0.363 NaN 0 0 0 0.005443 0 24 63 SLC5A4 6527 broad.mit.edu 37 22 32627028 32627028 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:32627028C>G uc003ami.2 - 10 1058 c.1056G>C c.(1054-1056)GTG>GTC p.V352V NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 352 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CACAGTGTTTCACGCATTCAG 0.493 NaN 0 0 0 0.00499 0 13 46 MYH9 4627 broad.mit.edu 37 22 36745254 36745254 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:36745254G>C uc003apg.2 - 2 259 c.28C>G c.(28-30)CTC>GTC p.L10V MYH9_uc003api.1_Missense_Mutation_p.L10V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 10 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 TCCACATAGAGATACTTATCG 0.517 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.001855 0 13 42 CARD10 29775 broad.mit.edu 37 22 37902202 37902202 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:37902202G>C uc003asx.1 - 7 1383 c.1380C>G c.(1378-1380)CTC>CTG p.L460L CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.L174L|CARD10_uc003asy.1_Silent_p.L460L NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 460 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) CGCTCACCTTGAGGCAGGTGC 0.672 NaN 0 0 0 0.007413 0 14 30 APOBEC3D 140564 broad.mit.edu 37 22 39378461 39378461 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:39378461G>C uc011aoe.1 + 1 57 c.3G>C c.(1-3)ATG>ATC p.M1I APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awo.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awp.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Missense_Mutation_p.M1I|APOBEC3D_uc011aof.1_Missense_Mutation_p.M1I NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 1 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) GGCTGAACATGAATCCACAGA 0.597 NaN 0 0 0 0.002445 0 30 19 APOBEC3G 60489 broad.mit.edu 37 22 39483104 39483104 + Silent SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:39483104G>T uc003awx.2 + 7 1455 c.1113G>T c.(1111-1113)CTG>CTT p.L371L APOBEC3G_uc003awy.2_Silent_p.L304L NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 371 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Melanoma(58;0.04) GCCAAGACCTGAGTGGGAGGC 0.483 NaN 1 0 6.07407e-21 0.007291 7.71311e-21 27 70 TNRC6B 23112 broad.mit.edu 37 22 40661277 40661277 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:40661277C>G uc011aor.1 + 5 1254 c.1043C>G c.(1042-1044)TCA>TGA p.S348* TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S348*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S152* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 348 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 GAACAGCAGTCAAAGATGGAA 0.428 NaN 0 0 0 0.003954 0 24 64 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 NaN 0 0 0 0.006214 0 6 42 CELSR1 9620 broad.mit.edu 37 22 46759985 46759985 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:46759985C>T uc003bhw.1 - 34 8943 c.8943G>A c.(8941-8943)AAG>AAA p.K2981K NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2981 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCCCAGGGCTCTTGACTGTGA 0.687 NaN 0 0 0 0.002299 0 22 50 CELSR1 9620 broad.mit.edu 37 22 46859643 46859643 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:46859643C>T uc003bhw.1 - 2 4144 c.4144G>A c.(4144-4146)GAG>AAG p.E1382K NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1382 Extracellular (Potential).|EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TAGCCGCCCTCGCGGCTGCGG 0.687 NaN 0 0 0 0.001168 0 5 15 MLC1 23209 broad.mit.edu 37 22 50523236 50523236 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:50523236C>T uc003bjg.1 - 2 369 c.96G>A c.(94-96)GCG>GCA p.A32A MLC1_uc011arl.1_Silent_p.A32A|MLC1_uc003bjh.1_Silent_p.A32A|MLC1_uc011arm.1_Silent_p.A32A|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Silent_p.A32A NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 32 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CGCTCGGCTTCGCGTCTGGGG 0.637 NaN 0 0 0 0.001882 0 22 54 TUBGCP6 85378 broad.mit.edu 37 22 50657502 50657502 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr22:50657502C>G uc003bkb.1 - 20 5133 c.4621G>C c.(4621-4623)GAG>CAG p.E1541Q TUBGCP6_uc003bka.1_Missense_Mutation_p.E628Q|TUBGCP6_uc010har.1_Missense_Mutation_p.E1533Q|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1541 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCACCTTCTCAAAGAGCAGG 0.657 NaN 0 0 0 0.000602 0 4 47 EDEM1 9695 broad.mit.edu 37 3 5246762 5246762 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:5246762G>C uc003bqi.2 + 6 1185 c.1053G>C c.(1051-1053)GTG>GTC p.V351V EDEM1_uc011asz.1_Silent_p.V129V|EDEM1_uc003bqh.2_Silent_p.V351V NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 351 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GCAATGTCGTGAACATTCAGA 0.517 NaN 0 0 0 0.00361 0 60 76 C3orf24 115795 broad.mit.edu 37 3 10146088 10146088 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:10146088G>A uc003buz.2 - 2 596 c.371C>T c.(370-372)TCA>TTA p.S124L C3orf24_uc003bva.1_Missense_Mutation_p.S124L NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 124 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) GCAAAAGGCTGACTTGTCTGA 0.522 NaN 0 0 0 0.00278 0 23 173 PPARG 5468 broad.mit.edu 37 3 12458253 12458253 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:12458253C>G uc003bwx.2 + 6 961 c.870C>G c.(868-870)ATC>ATG p.I290M PPARG_uc003bwr.2_Missense_Mutation_p.I262M|PPARG_uc003bws.2_Missense_Mutation_p.I262M|PPARG_uc003bwu.2_Missense_Mutation_p.I262M|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 290 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AAGATAAAATCAAGTTCAAAC 0.473 NaN T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 0 0 0 0.00499 0 17 27 ANKRD28 23243 broad.mit.edu 37 3 15762601 15762601 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:15762601G>C uc003caj.1 - 8 870 c.727C>G c.(727-729)CTT>GTT p.L243V ANKRD28_uc003cai.1_Missense_Mutation_p.L89V|ANKRD28_uc011avz.1_Missense_Mutation_p.L89V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.L273V|ANKRD28_uc003cam.2_Missense_Mutation_p.L276V NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 243 ANK 7. nucleoplasm protein binding breast(1) 1 GCTACATGAAGAGGTGTATTT 0.328 NaN 0 0 0 0.00361 0 59 471 TRANK1 9881 broad.mit.edu 37 3 36899292 36899292 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:36899292G>A uc003cgj.2 - 3 441 c.139C>T c.(139-141)CTG>TTG p.L47L NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 597 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GCCAAGAGCAGAGAGTCGTTC 0.532 NaN 0 0 0 0.002836 0 34 213 LRRFIP2 9209 broad.mit.edu 37 3 37151043 37151043 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:37151043G>A uc003cgp.2 - 12 1007 c.584C>T c.(583-585)TCT>TTT p.S195F LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 195 DVL3-binding.|Ser-rich. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 CAGCAGACCAGAATTTGCAGT 0.438 NaN 0 0 0 0.00361 0 48 75 SCN10A 6336 broad.mit.edu 37 3 38739903 38739903 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38739903G>T uc003ciq.2 - 27 4808 c.4808C>A c.(4807-4809)TCC>TAC p.S1603Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1603 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGCAGGCAGGGACATCATGAG 0.562 NaN 1 0 5.61819e-17 0.005443 7.09044e-17 27 124 SCN10A 6336 broad.mit.edu 37 3 38743465 38743465 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38743465G>C uc003ciq.2 - 26 4522 c.4522C>G c.(4522-4524)CTG>GTG p.L1508V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1508 IV.|Helical; Name=S2 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATTTTGCCCAGAATTTTCGTC 0.448 NaN 0 0 0 0.00245 0 14 94 SCN11A 11280 broad.mit.edu 37 3 38962667 38962667 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:38962667G>A uc011ays.1 - 6 991 c.792C>T c.(790-792)CTC>CTT p.L264L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 264 Helical; Name=S5 of repeat I; (By similarity).|I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAAGATGCTGAGGCAAAAGA 0.498 NaN 0 0 0 0.002836 0 34 252 ENTPD3 956 broad.mit.edu 37 3 40457535 40457535 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:40457535G>C uc003ckd.3 + 7 894 c.802G>C c.(802-804)GAG>CAG p.E268Q ENTPD3_uc010hhy.2_Missense_Mutation_p.E268Q|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 268 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GAATGAGGCTGAGAAGAAGTT 0.552 NaN 0 0 0 0.00499 0 18 36 CSPG5 10675 broad.mit.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:47619161C>T uc003crp.3 - 2 531 c.355G>A c.(355-357)GAT>AAT p.D119N CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 119 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCTGGGCATCGCCGCTGCCC 0.692 NaN 0 0 0 0.00499 0 16 82 COL7A1 1294 broad.mit.edu 37 3 48612779 48612779 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48612779C>T uc003ctz.2 - 73 6174 c.6173G>A c.(6172-6174)GGA>GAA p.G2058E NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2058 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCCTCTCTCCTGGCCTTCC 0.697 NaN 0 0 0 0.007291 0 26 30 CELSR3 1951 broad.mit.edu 37 3 48697852 48697852 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48697852G>A uc003cul.2 - 1 2497 c.2216C>T c.(2215-2217)TCA>TTA p.S739L CELSR3_uc003cuf.1_Missense_Mutation_p.S809L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 739 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GACACTGGCTGAGGCAGAGAG 0.567 NaN 0 0 0 0.007835 0 34 53 CELSR3 1951 broad.mit.edu 37 3 48698805 48698805 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48698805C>G uc003cul.2 - 1 1544 c.1263G>C c.(1261-1263)GTG>GTC p.V421V CELSR3_uc003cuf.1_Silent_p.V491V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 421 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGCTACTGTCACGGCCACCA 0.662 NaN 0 0 0 0.004289 0 36 53 PRKAR2A 5576 broad.mit.edu 37 3 48820513 48820513 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:48820513G>T uc010hki.1 - 5 689 c.448C>A c.(448-450)CAA>AAA p.Q150K PRKAR2A_uc003cux.1_Missense_Mutation_p.Q150K|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Q150K NM_004157 NP_004148 P13861 KAP2_HUMAN cAMP-dependent protein kinase, regulatory 150 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) TCGAGAACTTGAGAAAGCTGT 0.383 NaN 1 0 4.68919e-08 0.008291 5.70789e-08 10 67 WDR6 11180 broad.mit.edu 37 3 49049462 49049462 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:49049462G>A uc003cvj.2 + 2 723 c.585G>A c.(583-585)CTG>CTA p.L195L WDR6_uc011bbx.1_Silent_p.L66L|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.L139L|WDR6_uc011bbz.1_Silent_p.L114L NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 165 WD 2. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CAGCCTGCCTGATTGGAGACG 0.567 NaN 0 0 0 0.001168 0 6 50 SEMA3F 6405 broad.mit.edu 37 3 50211515 50211515 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:50211515G>A uc003cyj.2 + 4 502 c.304G>A c.(304-306)GAG>AAG p.E102K SEMA3F_uc003cyk.2_Missense_Mutation_p.E102K NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 102 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACAGCGCATCGAGGAATGCGT 0.627 NaN 0 0 0 0.004878 0 38 37 HYAL2 8692 broad.mit.edu 37 3 50357236 50357236 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:50357236C>T uc003czu.2 - 2 905 c.685G>A c.(685-687)GAT>AAT p.D229N HYAL2_uc003czx.2_Missense_Mutation_p.D229N|HYAL2_uc003czv.2_Missense_Mutation_p.D229N|HYAL2_uc003czw.2_Missense_Mutation_p.D229N|HYAL2_uc010hlj.2_Missense_Mutation_p.D229N NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 229 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) ACCTCAACATCAGGGCAGCGG 0.612 NaN 0 0 0 0.004007 0 17 32 NT5DC2 64943 broad.mit.edu 37 3 52558487 52558487 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52558487C>T uc003deo.2 - 14 1986 c.1562G>A c.(1561-1563)TGA>TAA p.*521* NT5DC2_uc003dem.2_Silent_p.*391*|NT5DC2_uc003den.2_Silent_p.*558*|NT5DC2_uc010hmi.2_Silent_p.*533*|NT5DC2_uc010hmj.2_Silent_p.*337*|STAB1_uc003dej.2_3'UTR|STAB1_uc003del.2_3'UTR NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 521 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) AAGGTGCCCTCAGCGGATGTG 0.612 NaN 0 0 0 0.00361 0 98 110 PBRM1 55193 broad.mit.edu 37 3 52643561 52643561 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52643561G>C uc003des.2 - 16 2347 c.2335C>G c.(2335-2337)CAA>GAA p.Q779E PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q779E|PBRM1_uc003der.2_Missense_Mutation_p.Q747E|PBRM1_uc003det.2_Missense_Mutation_p.Q794E|PBRM1_uc003deu.2_Missense_Mutation_p.Q794E|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q779E|PBRM1_uc010hmk.1_Missense_Mutation_p.Q779E|PBRM1_uc003dey.2_Missense_Mutation_p.Q779E|PBRM1_uc003dez.1_Missense_Mutation_p.Q779E|PBRM1_uc003dfb.1_Missense_Mutation_p.Q692E|PBRM1_uc003dfa.1_Missense_Mutation_p.Q125E|PBRM1_uc003dfc.2_Missense_Mutation_p.Q146E NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 779 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.Q779*(3) 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) ATAAGCTCTTGAATCAGCAAA 0.448 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 0.003755 0 36 43 PBRM1 55193 broad.mit.edu 37 3 52696218 52696218 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:52696218C>T uc003des.2 - 4 471 c.459G>A c.(457-459)CAG>CAA p.Q153Q PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.Q153Q|PBRM1_uc003der.2_Silent_p.Q153Q|PBRM1_uc003det.2_Silent_p.Q153Q|PBRM1_uc003deu.2_Silent_p.Q153Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.Q153Q|PBRM1_uc010hmk.1_Silent_p.Q153Q|PBRM1_uc003dey.2_Silent_p.Q153Q|PBRM1_uc003dez.1_Silent_p.Q153Q|PBRM1_uc003dfb.1_Silent_p.Q51Q NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 153 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) CTTCTCCTTTCTGAACAAACT 0.418 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 0.001786 0 32 217 CACNA1D 776 broad.mit.edu 37 3 53783406 53783406 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:53783406C>T uc003dgv.3 + 27 3589 c.3426C>T c.(3424-3426)TTC>TTT p.F1142F CACNA1D_uc003dgu.3_Silent_p.F1162F|CACNA1D_uc003dgy.3_Silent_p.F1142F|CACNA1D_uc003dgw.3_Silent_p.F809F|CACNA1D_uc003dgx.1_Silent_p.F290F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1142 Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TAGCTTTCTTCATGATGAACA 0.418 NaN 0 0 0 0.002096 0 33 44 ERC2 26059 broad.mit.edu 37 3 55733504 55733504 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:55733504C>T uc003dhr.1 - 16 3005 c.2749G>A c.(2749-2751)GAT>AAT p.D917N ERC2_uc003dhq.1_RNA NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 917 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) tggtCATCATCATAGTTGTCT 0.383 NaN 0 0 0 0.00361 0 121 193 MAGI1 9223 broad.mit.edu 37 3 65342307 65342307 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:65342307C>T uc003dmn.2 - 23 4661 c.4135G>A c.(4135-4137)GAG>AAG p.E1379K MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1408 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTCCTCTGCTCCAGGAGTCTC 0.726 NaN 0 0 0 0.002299 0 22 58 LRIG1 26018 broad.mit.edu 37 3 66434683 66434683 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:66434683G>A uc003dmx.2 - 14 1817 c.1803C>T c.(1801-1803)TTC>TTT p.F601F SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.F221F|LRIG1_uc003dmw.2_Silent_p.F267F|LRIG1_uc010hnz.2_Silent_p.F317F|LRIG1_uc010hoa.2_Silent_p.F625F NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 601 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCGTTTTGGTGAATGATGGCA 0.547 NaN 0 0 0 0.00361 0 56 283 LRIG1 26018 broad.mit.edu 37 3 66502041 66502041 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:66502041C>T uc003dmx.2 - 3 321 c.307G>A c.(307-309)GAG>AAG p.E103K LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.E103K NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 103 Extracellular (Potential).|LRR 2. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCTGTCAACTCATTATTATTG 0.438 NaN 0 0 0 0.00361 0 51 68 GXYLT2 727936 broad.mit.edu 37 3 73016856 73016856 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:73016856G>A uc003dpg.2 + 6 1135 c.1135G>A c.(1135-1137)GAA>AAA p.E379K NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 379 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 AGCACTCTATGAAGCAATACG 0.493 NaN 0 0 0 0.008291 0 9 38 CGGBP1 8545 broad.mit.edu 37 3 88104904 88104904 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:88104904C>T uc003dqs.2 - 4 735 c.223G>A c.(223-225)GAA>AAA p.E75K CGGBP1_uc003dqt.2_Missense_Mutation_p.E75K|CGGBP1_uc003dqu.2_Missense_Mutation_p.E75K NM_001008390 NP_001008391 Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding 0 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TTCTGCTCTTCAAATTCTGCC 0.453 NaN 0 0 0 0.003163 0 15 112 TMEM45A 55076 broad.mit.edu 37 3 100277340 100277340 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100277340C>T uc003dtz.1 + 4 808 c.495C>T c.(493-495)CTC>CTT p.L165L TMEM45A_uc003dua.1_Silent_p.L181L NM_018004 NP_060474 Q9NWC5 TM45A_HUMAN transmembrane protein 45A 165 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 TGACAGGCCTCGTTGCCTTCC 0.502 NaN 0 0 0 0.008361 0 32 178 GPR128 84873 broad.mit.edu 37 3 100413798 100413798 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100413798G>A uc003duc.2 + 16 2615 c.2347G>A c.(2347-2349)GAG>AAG p.E783K GPR128_uc011bhc.1_Missense_Mutation_p.E484K|GPR128_uc003dud.2_Missense_Mutation_p.E306K NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 783 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TCCGAGTACTGAGGAAATCAC 0.433 NaN 0 0 0 0.00499 0 18 69 IMPG2 50939 broad.mit.edu 37 3 100961751 100961751 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:100961751G>A uc003duq.1 - 14 3006 c.2803C>T c.(2803-2805)CTG>TTG p.L935L IMPG2_uc011bhe.1_Silent_p.L798L NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 935 Extracellular (Potential).|SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TAGGGAACCAGCTACAATATA 0.403 NaN 0 0 0 0.003954 0 25 69 PHLDB2 90102 broad.mit.edu 37 3 111667878 111667878 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:111667878G>A uc010hqa.2 + 10 2998 c.2587G>A c.(2587-2589)GAG>AAG p.E863K PHLDB2_uc003dyc.2_Missense_Mutation_p.E847K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E863K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyi.2_Intron NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 863 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 TGTTGCCACTGAGCCTGCCAC 0.478 NaN 0 0 0 0.004007 0 16 39 GCET2 257144 broad.mit.edu 37 3 111851948 111851948 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:111851948C>G uc003dys.1 - 1 170 c.20G>C c.(19-21)AGA>ACA p.R7T GCET2_uc003dyt.1_5'UTR NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 7 mitochondrion 0 CCTGTTTTCTCTCAGCAGAGA 0.502 NaN 0 0 0 0.002836 0 30 169 BTLA 151888 broad.mit.edu 37 3 112185019 112185019 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:112185019G>C uc003dza.3 - 5 1009 c.806C>G c.(805-807)TCA>TGA p.S269* BTLA_uc003dzb.3_Nonsense_Mutation_p.S221* NM_181780 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated isoform 1 269 Cytoplasmic (Potential). T cell costimulation receptor activity 0 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TGCCAGTCTTGAGTTCGGTCC 0.418 NaN 0 0 0 0.004289 0 35 90 KIAA2018 205717 broad.mit.edu 37 3 113378767 113378767 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:113378767G>C uc003eam.2 - 7 2173 c.1762C>G c.(1762-1764)CAG>GAG p.Q588E KIAA2018_uc003eal.2_Missense_Mutation_p.Q532E NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 588 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AAAGGATTCTGATTAGCAGCC 0.478 NaN 0 0 0 0.008871 0 21 102 RABL3 285282 broad.mit.edu 37 3 120461334 120461334 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:120461334C>T uc003edx.2 - 1 51 c.21G>A c.(19-21)GTG>GTA p.V7V GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 7 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) CCAGTACCTTCACCCGATCCA 0.567 NaN 0 0 0 0.004482 0 9 76 SLC15A2 6565 broad.mit.edu 37 3 121630438 121630438 + Missense_Mutation SNP C C G rs138471341 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:121630438C>G uc003eep.2 + 4 506 c.353C>G c.(352-354)TCC>TGC p.S118C SLC15A2_uc011bjn.1_Intron NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 118 Helical; (Potential). protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.S118F(1) skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATCTATCTCTCCTTGGTGTAT 0.418 NaN 0 0 0 0.00333 0 22 30 SLC41A3 54946 broad.mit.edu 37 3 125735707 125735707 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:125735707G>C uc003eij.2 - 7 983 c.757C>G c.(757-759)CTG>GTG p.L253V SLC41A3_uc003eii.2_Missense_Mutation_p.L227V|SLC41A3_uc003eil.2_Missense_Mutation_p.L253V|SLC41A3_uc003eik.2_Missense_Mutation_p.L217V|SLC41A3_uc011bkh.1_Missense_Mutation_p.L136V|SLC41A3_uc010hsd.1_Missense_Mutation_p.L268V NM_001008485 NP_001008485 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 isoform 1 253 Helical; (Potential). integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(114;0.167) AGCGGCGTCAGATACCGACTA 0.582 NaN 0 0 0 0.004672 0 3 41 ZXDC 79364 broad.mit.edu 37 3 126193905 126193905 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:126193905G>C uc003eiv.2 - 1 858 c.804C>G c.(802-804)TTC>TTG p.F268L ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.F268L NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 268 C2H2-type 4. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) CCTCGCACTTGAACAGGCTCT 0.627 NaN 0 0 0 0.000248 0 3 13 IFT122 55764 broad.mit.edu 37 3 129214429 129214429 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129214429C>A uc003emm.2 + 18 2393 c.2187C>A c.(2185-2187)CTC>CTA p.L729L IFT122_uc003eml.2_Silent_p.L780L|IFT122_uc003emn.2_Silent_p.L670L|IFT122_uc003emo.2_Silent_p.L618L|IFT122_uc003emp.2_Silent_p.L579L|IFT122_uc010htc.2_Silent_p.L721L|IFT122_uc011bky.1_Silent_p.L520L|IFT122_uc003emq.2_Silent_p.L569L|IFT122_uc003emr.2_Silent_p.L481L|IFT122_uc011bla.1_Silent_p.L502L|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Silent_p.L110L|IFT122_uc011bkx.1_Silent_p.L569L|IFT122_uc010htd.1_Silent_p.L208L NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 729 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 ACACCGACCTCTGCATGTTTG 0.527 NaN 1 0 2.27731e-05 0.001882 2.73277e-05 20 48 IFT122 55764 broad.mit.edu 37 3 129231193 129231193 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129231193C>G uc003emm.2 + 24 3131 c.2925C>G c.(2923-2925)TTC>TTG p.F975L IFT122_uc003eml.2_Missense_Mutation_p.F1026L|IFT122_uc003emn.2_Missense_Mutation_p.F916L|IFT122_uc003emo.2_Missense_Mutation_p.F865L|IFT122_uc003emp.2_Missense_Mutation_p.F825L|IFT122_uc010htc.2_Missense_Mutation_p.F968L|IFT122_uc011bky.1_Missense_Mutation_p.F766L|IFT122_uc003emq.2_Missense_Mutation_p.F815L|IFT122_uc003emr.2_Missense_Mutation_p.F728L|IFT122_uc011bla.1_Missense_Mutation_p.F749L|IFT122_uc010hte.2_Missense_Mutation_p.F301L|IFT122_uc003ems.2_Missense_Mutation_p.F357L|IFT122_uc011bkx.1_Missense_Mutation_p.F816L NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 975 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AAACTCTTTTCAACATCTCCA 0.537 NaN 0 0 0 0.00361 0 45 201 PLXND1 23129 broad.mit.edu 37 3 129290635 129290635 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:129290635G>C uc003emx.2 - 16 3230 c.3130C>G c.(3130-3132)CCG>GCG p.P1044A NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1044 Extracellular (Potential).|IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 ACAGGCACCGGAGCCGGCAGG 0.662 NaN 0 0 0 0.000602 0 5 27 MSL2 55167 broad.mit.edu 37 3 135913868 135913868 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:135913868C>T uc003eqx.1 - 1 821 c.88G>A c.(88-90)GAG>AAG p.E30K MSL2_uc011bmb.1_5'Flank NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 30 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 CTGTTAATCTCAGTAAACGCC 0.493 NaN 0 0 0 0.00361 0 99 160 ESYT3 83850 broad.mit.edu 37 3 138195290 138195290 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:138195290G>A uc003esk.2 + 22 2806 c.2580G>A c.(2578-2580)CTG>CTA p.L860L NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 860 C2 3. integral to membrane|plasma membrane 0 TTTAGGTACTGATTGACTTAT 0.353 NaN 0 0 0 0.001168 0 4 55 MRPS22 56945 broad.mit.edu 37 3 139063001 139063001 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:139063001G>C uc003etb.2 + 1 141 c.133G>C c.(133-135)GAG>CAG p.E45Q MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E45Q|MRPS22_uc003ete.2_5'Flank NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 45 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 TTGCTCTTTCGAGATGGGGCT 0.627 NaN 0 0 0 0.001168 0 6 23 COPB2 9276 broad.mit.edu 37 3 139092111 139092111 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:139092111C>T uc003etf.3 - 9 1168 c.1038G>A c.(1036-1038)AAG>AAA p.K346K COPB2_uc011bmv.1_Silent_p.K317K|COPB2_uc010hui.2_Silent_p.K317K NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 346 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TGCCCATATCCTTTACTGCCA 0.438 NaN 0 0 0 0.004482 0 7 104 SPSB4 92369 broad.mit.edu 37 3 140785627 140785627 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:140785627C>G uc003ett.2 + 2 935 c.681C>G c.(679-681)ATC>ATG p.I227M SPSB4_uc010hum.2_Missense_Mutation_p.I227M NM_080862 NP_543138 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box 227 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding 0 TGCGCTACATCAACGGCCTTG 0.637 NaN 0 0 0 0.008871 0 14 37 ATR 545 broad.mit.edu 37 3 142168301 142168301 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:142168301C>G uc003eux.3 - 47 8027 c.7905G>C c.(7903-7905)CAG>CAC p.Q2635H XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2635 FATC. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CAAGATACATCTGGCATAGTA 0.333 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.00245 0 12 72 P2RY13 53829 broad.mit.edu 37 3 151046539 151046539 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:151046539G>C uc003eyv.2 - 2 326 c.305C>G c.(304-306)TCT>TGT p.S102C MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 102 Extracellular (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) GTGTGAGTCAGAGAGGATTTT 0.468 NaN 0 0 0 0.001882 0 21 36 IGSF10 285313 broad.mit.edu 37 3 151154669 151154669 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:151154669G>A uc011bod.1 - 6 7680 c.7680C>T c.(7678-7680)ATC>ATT p.I2560I IGSF10_uc011bob.1_Silent_p.I587I|IGSF10_uc011boc.1_Silent_p.I539I NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2560 Ig-like C2-type 12. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTCCCATGTGATTTCTGGCT 0.522 NaN 0 0 0 0.00245 0 15 57 MME 4311 broad.mit.edu 37 3 154834674 154834674 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:154834674G>A uc010hvr.1 + 7 764 c.553G>A c.(553-555)GAA>AAA p.E185K MME_uc003fab.1_Missense_Mutation_p.E185K|MME_uc003fac.1_Missense_Mutation_p.E185K|MME_uc003fad.1_Missense_Mutation_p.E185K|MME_uc003fae.1_Missense_Mutation_p.E185K NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 185 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGGACAGCTGAAAAAGCTAT 0.284 NaN 0 0 0 0.001368 0 12 35 GMPS 8833 broad.mit.edu 37 3 155633963 155633963 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:155633963C>T uc003faq.2 + 9 1529 c.1194C>T c.(1192-1194)ATC>ATT p.I398I GMPS_uc011bom.1_Silent_p.I299I NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 398 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGAGCTCATCAGAAAGTTGA 0.393 NaN T MLL AML 0 0 0 0.007835 0 36 84 SI 6476 broad.mit.edu 37 3 164735823 164735823 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:164735823T>C uc003fei.2 - 29 3517 c.3455A>G c.(3454-3456)TAT>TGT p.Y1152C NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1152 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGCCATGTAATAGGGATGAAA 0.313 NaN HNSCC(35;0.089) 0 0 0 0.004482 0 7 64 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.001523 0 20 57 MCCC1 56922 broad.mit.edu 37 3 182763328 182763328 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:182763328C>T uc003fle.2 - 10 1093 c.956G>A c.(955-957)GGG>GAG p.G319E MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.G202E|MCCC1_uc003flg.2_Missense_Mutation_p.G210E|MCCC1_uc011bqp.1_Missense_Mutation_p.G272E|MCCC1_uc011bqq.1_Missense_Mutation_p.G210E NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 319 Biotin carboxylation.|ATP-grasp. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTCCACAGTCCCTAAAAGGTA 0.363 NaN 0 0 0 0.001368 0 13 54 MCF2L2 23101 broad.mit.edu 37 3 182923668 182923668 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:182923668G>C uc003fli.1 - 25 2970 c.2880C>G c.(2878-2880)ATC>ATG p.I960M NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 960 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCTACCTTTGATATTATTTT 0.368 NaN 0 0 0 0.001368 0 10 21 KLHL6 89857 broad.mit.edu 37 3 183225916 183225916 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:183225916G>A uc003flr.2 - 3 898 c.840C>T c.(838-840)CTC>CTT p.L280L KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.L278L NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 280 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ACTGCCTGATGAGAGGATCTG 0.527 NaN 0 0 0 0.005443 0 28 66 ECE2 9718 broad.mit.edu 37 3 183967544 183967544 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:183967544G>T uc003fni.3 + 1 100 c.62G>T c.(61-63)CGC>CTC p.R21L ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.R21L NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 21 Cytoplasmic (Potential).|Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCGGGTACCGCGAAGTCGAG 0.667 NaN OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.00307968 0.00308 0.00364399 8 56 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:184870595G>C uc003fpd.2 - 1 208 c.17C>G c.(16-18)TCG>TGG p.S6W NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 6 0 CGACGCCGGCGAGGCCGCCGC 0.716 NaN 0 0 0 0.000248 0 3 14 DGKG 1608 broad.mit.edu 37 3 185879433 185879433 + Missense_Mutation SNP T T C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:185879433T>C uc003fqa.2 - 24 2773 c.2236A>G c.(2236-2238)ATG>GTG p.M746V DGKG_uc003fqb.2_Missense_Mutation_p.M707V|DGKG_uc003fqc.2_Missense_Mutation_p.M721V|DGKG_uc011brx.1_Missense_Mutation_p.M687V NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 746 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCACTTGCATTGGCAGCAGC 0.483 NaN 0 0 0 0.006214 0 8 65 ACAP2 23527 broad.mit.edu 37 3 195102746 195102746 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:195102746C>A uc003fun.3 - 3 358 c.117G>T c.(115-117)GTG>GTT p.V39V ACAP2_uc003fuo.2_Silent_p.V39V NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 39 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TACAAAGTTTCACAAGCTGAA 0.338 NaN 1 0 1.15088e-07 0.004007 1.39853e-07 13 24 IQCG 84223 broad.mit.edu 37 3 197652962 197652962 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:197652962C>T uc003fyo.2 - 6 805 c.659G>A c.(658-660)AGA>AAA p.R220K IQCG_uc003fyn.2_Missense_Mutation_p.R122K|IQCG_uc003fyp.2_Missense_Mutation_p.R220K|IQCG_uc003fyq.3_Missense_Mutation_p.R220K NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 220 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TATCTGTTTTCTTCCTTTTTC 0.244 NaN 0 0 0 0.002299 0 24 43 IQCG 84223 broad.mit.edu 37 3 197652965 197652965 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr3:197652965C>T uc003fyo.2 - 6 802 c.656G>A c.(655-657)GGA>GAA p.G219E IQCG_uc003fyn.2_Missense_Mutation_p.G121E|IQCG_uc003fyp.2_Missense_Mutation_p.G219E|IQCG_uc003fyq.3_Missense_Mutation_p.G219E NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 219 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTGTTTTCTTCCTTTTTCCTC 0.234 NaN 0 0 0 0.008871 0 21 41 FGFR3 2261 broad.mit.edu 37 4 1806119 1806119 + Missense_Mutation SNP G G A rs28931614 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:1806119G>A uc003gdr.3 + 9 1394 c.1138G>A c.(1138-1140)GGG>AGG p.G380R FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 380 Helical; (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G380R(15)|p.G380E(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTCAGCTACGGGGTGGGCTT 0.672 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.00361 0 167 154 ADRA2C 152 broad.mit.edu 37 4 3769370 3769370 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:3769370C>G uc003ghm.2 + 1 1075 c.1037C>G c.(1036-1038)TCG>TGG p.S346W ADRA2C_uc010icx.2_Intron NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 346 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGCCGCCTGTCGCGCGCCAGC 0.607 NaN 0 0 0 0.001168 0 5 2 CLNK 116449 broad.mit.edu 37 4 10566338 10566338 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:10566338G>A uc003gmo.3 - 7 493 c.356C>T c.(355-357)TCC>TTC p.S119F CLNK_uc003gmp.2_Missense_Mutation_p.S77F NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 119 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 CTGTCCAATGGAGATAGAGGT 0.453 NaN 0 0 0 0.002852 0 37 42 PGM2 55276 broad.mit.edu 37 4 37839181 37839181 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:37839181C>T uc011byb.1 + 4 460 c.387C>T c.(385-387)ATC>ATT p.I129I PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 129 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 CCACATTTATCAGTCAGGGGA 0.458 NaN 0 0 0 0.00361 0 49 128 SGCB 6443 broad.mit.edu 37 4 52894145 52894145 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:52894145C>G uc003gzj.2 - 5 802 c.742G>C c.(742-744)GAG>CAG p.E248Q SGCB_uc011bzp.1_Missense_Mutation_p.E178Q NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta 248 Extracellular (Potential).|Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) GCCTTTAACTCCATATTACCA 0.289 NaN 0 0 0 0.007413 0 18 90 SRD5A3 79644 broad.mit.edu 37 4 56236183 56236183 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:56236183C>T uc003hau.2 + 5 977 c.882C>T c.(880-882)CTC>CTT p.L294L uc003hav.1_Intron|uc003haw.1_Intron NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 294 Cytoplasmic (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CTGCCTTTCTCAGCCACCAAT 0.423 NaN 0 0 0 0.004656 0 26 86 LPHN3 23284 broad.mit.edu 37 4 62542622 62542622 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:62542622C>T uc010ihh.2 + 3 521 c.348C>T c.(346-348)TAC>TAT p.Y116Y LPHN3_uc003hcq.3_Silent_p.Y116Y|LPHN3_uc010ihg.1_Silent_p.Y184Y NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 116 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CCTATAAATACCTTGAAGTGC 0.398 NaN 0 0 0 0.001368 0 12 274 SMR3A 26952 broad.mit.edu 37 4 71232530 71232530 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:71232530G>A uc003hfg.1 + 3 305 c.224G>A c.(223-225)AGA>AAA p.R75K SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 75 Pro-rich. extracellular region 0 all_hematologic(202;0.196) GGTCCAGGGAGAATCCCACCA 0.537 NaN 0 0 0 0.007291 0 27 173 SHROOM3 57619 broad.mit.edu 37 4 77357273 77357273 + Missense_Mutation SNP G G A rs142735873 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:77357273G>A uc011cbx.1 + 1 1021 c.68G>A c.(67-69)GGA>GAA p.G23E NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 23 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) GCCACCAAGGGAAGGTACATT 0.473 NaN 0 0 0 0.00361 0 54 143 SHROOM3 57619 broad.mit.edu 37 4 77651964 77651964 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:77651964G>A uc011cbx.1 + 4 1416 c.463G>A c.(463-465)GAG>AAG p.E155K SHROOM3_uc011cbz.1_5'UTR|SHROOM3_uc003hkf.1_Missense_Mutation_p.E30K NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 155 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) CAGGCGCAGTGAGCCTGCAGG 0.562 NaN 0 0 0 0.00361 0 48 87 SPARCL1 8404 broad.mit.edu 37 4 88401595 88401595 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:88401595C>G uc010ikm.2 - 10 2318 c.1746G>C c.(1744-1746)AAG>AAC p.K582N SPARCL1_uc011cdc.1_Missense_Mutation_p.K457N|SPARCL1_uc003hqs.3_Missense_Mutation_p.K582N|SPARCL1_uc011cdd.1_Missense_Mutation_p.K457N NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 582 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) GGTAGTTTTTCTTAAAGTCCC 0.423 NaN 0 0 0 0.001786 0 27 81 PKD2 5311 broad.mit.edu 37 4 88996667 88996667 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:88996667C>A uc003hre.2 + 15 2794 c.2728C>A c.(2728-2730)CGT>AGT p.R910S PKD2_uc011cdf.1_Missense_Mutation_p.R328S|PKD2_uc011cdg.1_Missense_Mutation_p.R236S|PKD2_uc011cdh.1_Missense_Mutation_p.R133S NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 910 Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACGGCTAGTACGTGAAGAGTT 0.507 NaN 1 0 2.61193e-14 0.001786 3.27344e-14 33 256 FAM13A 10144 broad.mit.edu 37 4 89709016 89709016 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:89709016G>T uc003hse.1 - 10 1367 c.1159C>A c.(1159-1161)CAA>AAA p.Q387K FAM13A_uc003hsb.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsd.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsc.1_Missense_Mutation_p.Q47K|FAM13A_uc011cdq.1_Missense_Mutation_p.Q33K|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q201K|FAM13A_uc010ikr.1_5'UTR NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 387 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TCTGAACTTTGACCTCCAGAG 0.463 NaN 1 0 1.05317e-09 0.00245 1.29843e-09 13 94 TIGD2 166815 broad.mit.edu 37 4 90034378 90034378 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:90034378G>C uc003hsk.2 + 1 411 c.253G>C c.(253-255)GAG>CAG p.E85Q FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 85 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AGTTATGATAGAGTGGTTTAA 0.393 NaN 0 0 0 0.006122 0 15 65 MTTP 4547 broad.mit.edu 37 4 100503108 100503108 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:100503108C>G uc003hvc.3 + 3 364 c.108C>G c.(106-108)CTC>CTG p.L36L MTTP_uc011cej.1_Silent_p.L63L|MTTP_uc003hvb.2_Silent_p.L36L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 36 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGTACAAGCTCACGTACTCCA 0.458 NaN 0 0 0 0.00499 0 17 79 CENPE 1062 broad.mit.edu 37 4 104079969 104079969 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:104079969C>T uc003hxb.1 - 23 2766 c.2676G>A c.(2674-2676)CTG>CTA p.L892L CENPE_uc003hxc.1_Silent_p.L867L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 892 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATTGTTCCTTCAGCTGTTCCA 0.348 NaN 0 0 0 0.001882 0 22 49 KIAA1109 84162 broad.mit.edu 37 4 123270446 123270446 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:123270446G>T uc003ieh.2 + 76 13459 c.13414G>T c.(13414-13416)GAT>TAT p.D4472Y KIAA1109_uc003iem.2_Missense_Mutation_p.D828Y NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4472 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGGGACCATAGATGTCAATGC 0.368 NaN 1 0 2.4624e-09 0.008871 3.02032e-09 19 27 PGRMC2 10424 broad.mit.edu 37 4 129193566 129193566 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:129193566C>G uc003igg.2 - 2 530 c.525G>C c.(523-525)TTG>TTC p.L175F NM_006320 NP_006311 progesterone receptor membrane component 2 0 GTACTGCATTCAAATCTGAGA 0.353 NaN 0 0 0 0.001984 0 5 39 PGRMC2 10424 broad.mit.edu 37 4 129193594 129193594 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:129193594C>G uc003igg.2 - 2 502 c.497G>C c.(496-498)AGA>ACA p.R166T NM_006320 NP_006311 progesterone receptor membrane component 2 0 ATATTCATCTCTAAGTGCATC 0.373 NaN 0 0 0 0.001168 0 5 33 MAML3 55534 broad.mit.edu 37 4 140641044 140641044 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:140641044C>G uc003ihz.1 - 7 3587 c.2835G>C c.(2833-2835)CAG>CAC p.Q945H MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.Q413H NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 946 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) CCATAAGGCTCTGCAGCCTTG 0.567 NaN 0 0 0 0.002522 0 42 96 TBC1D9 23158 broad.mit.edu 37 4 141555214 141555214 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:141555214G>C uc010ioj.2 - 16 2906 c.2634C>G c.(2632-2634)CTC>CTG p.L878L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 878 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCCAAGGAAAGAGAAGAGCAA 0.522 NaN 0 0 0 0.00308 0 8 32 LRBA 987 broad.mit.edu 37 4 151511949 151511949 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:151511949G>C uc010ipj.2 - 40 6616 c.6142C>G c.(6142-6144)CAG>GAG p.Q2048E LRBA_uc003ilt.3_Missense_Mutation_p.Q696E|LRBA_uc003ilu.3_Missense_Mutation_p.Q2037E NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2048 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TCTGAGTTCTGATTTCCTAAA 0.428 NaN 0 0 0 0.00874 0 40 45 GUCY1A3 2982 broad.mit.edu 37 4 156632044 156632044 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:156632044G>C uc003iov.2 + 7 1263 c.727G>C c.(727-729)GAT>CAT p.D243H GUCY1A3_uc003iou.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D243H|GUCY1A3_uc003iow.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D242H|GUCY1A3_uc003iox.2_Missense_Mutation_p.D243H|GUCY1A3_uc003ioz.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqe.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D243H NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 243 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTCCATAATGATTGCAGCGA 0.502 NaN 0 0 0 0.002836 0 32 103 RAPGEF2 9693 broad.mit.edu 37 4 160244633 160244633 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:160244633T>G uc003iqg.3 + 5 840 c.530T>G c.(529-531)CTC>CGC p.L177R NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 177 cNMP. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TCAGTGATTCTCAATGGATCT 0.398 NaN 0 0 0 0.00333 0 22 46 SC4MOL 6307 broad.mit.edu 37 4 166254535 166254535 + Missense_Mutation SNP G G A rs146748626 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:166254535G>A uc003ire.2 + 2 143 c.13G>A c.(13-15)GAA>AAA p.E5K SC4MOL_uc010irb.2_Missense_Mutation_p.E5K|SC4MOL_uc003irf.2_Intron NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 5 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) GGCAACAAATGAAAGTGTCAG 0.323 NaN 0 0 0 0.00333 0 21 56 SC4MOL 6307 broad.mit.edu 37 4 166258996 166258996 + Missense_Mutation SNP A A T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:166258996A>T uc003ire.2 + 3 441 c.311A>T c.(310-312)AAT>ATT p.N104I SC4MOL_uc010irb.2_Missense_Mutation_p.N104I|SC4MOL_uc003irf.2_5'UTR NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 104 Helical; (Potential). cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) CTTCTCTTTAATCACTTCTGT 0.353 NaN 0 0 0 0.001523 0 21 48 SNX25 83891 broad.mit.edu 37 4 186244769 186244769 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:186244769G>C uc003ixh.2 + 9 1261 c.1072G>C c.(1072-1074)GAA>CAA p.E358Q SNX25_uc010ish.2_Missense_Mutation_p.E129Q|SNX25_uc003ixi.2_5'UTR NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 358 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ACTTTACAAAGAAATTCAGCA 0.328 NaN 0 0 0 0.008871 0 20 31 CCDC110 256309 broad.mit.edu 37 4 186392204 186392204 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:186392204C>T uc003ixu.3 - 2 87 c.11_splice c.e2-1 p.E4_splice CCDC110_uc003ixv.3_Splice_Site_p.E4_splice|CCDC110_uc011ckt.1_Splice_Site_p.E4_splice NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TGCTGCTTTTCTGTAACAGAA 0.458 NaN 0 0 0 0.002222 0 42 74 KLKB1 3818 broad.mit.edu 37 4 187173013 187173013 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187173013C>G uc003iyy.2 + 10 1213 c.1142C>G c.(1141-1143)TCT>TGT p.S381C KLKB1_uc011clc.1_Missense_Mutation_p.S179C|KLKB1_uc011cld.1_Missense_Mutation_p.S343C NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 381 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGGGACAACTCTGGTGAGTAA 0.423 NaN 0 0 0 0.001523 0 20 109 FAT1 2195 broad.mit.edu 37 4 187521209 187521209 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187521209C>G uc003izf.2 - 22 12134 c.11946G>C c.(11944-11946)TTG>TTC p.L3982F FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3982 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCTGCCCATTCAAATAAATGG 0.498 NaN HNSCC(5;0.00058) 0 0 0 0.00361 0 60 114 FAT1 2195 broad.mit.edu 37 4 187531098 187531098 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187531098C>T uc003izf.2 - 15 10113 c.9925G>A c.(9925-9927)GAT>AAT p.D3309N NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3309 Extracellular (Potential).|Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTGCCTCCATCAGTGGCCTCT 0.443 NaN HNSCC(5;0.00058) 0 0 0 0.008291 0 10 43 PLEKHG4B 153478 broad.mit.edu 37 5 174135 174135 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:174135G>C uc003jak.2 + 16 3306 c.3256G>C c.(3256-3258)GCA>CCA p.A1086P NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1086 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CATTCTCCAAGCAAGCTCGGC 0.582 NaN 0 0 0 0.004482 0 9 11 PLEKHG4B 153478 broad.mit.edu 37 5 174155 174155 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:174155G>C uc003jak.2 + 16 3326 c.3276G>C c.(3274-3276)AAG>AAC p.K1092N NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1092 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGAGGTCAAGAGTGCATGGA 0.592 NaN 0 0 0 0.001168 0 6 7 SLC6A3 6531 broad.mit.edu 37 5 1414876 1414876 + Missense_Mutation SNP G G C rs28363072 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:1414876G>C uc003jck.2 - 8 1207 c.1086C>G c.(1084-1086)TTC>TTG p.F362L NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 362 Helical; Name=7; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGAAGACGACGAAGCCGGAGG 0.617 NaN 0 0 0 0.00499 0 14 62 KIAA0947 23379 broad.mit.edu 37 5 5464123 5464123 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:5464123C>T uc003jdm.3 + 13 4898 c.4676C>T c.(4675-4677)TCA>TTA p.S1559L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1559 ovary(1)|central_nervous_system(1) 2 TCAAAGATTTCAAACAAAGAT 0.373 NaN 0 0 0 0.00308 0 8 55 NSUN2 54888 broad.mit.edu 37 5 6620355 6620355 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:6620355G>C uc003jdu.2 - 7 744 c.679C>G c.(679-681)CAA>GAA p.Q227E NSUN2_uc003jdt.2_Translation_Start_Site|NSUN2_uc011cmk.1_Missense_Mutation_p.Q192E|NSUN2_uc003jdv.2_Translation_Start_Site NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 227 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 CTCTTGGCTTGATGGACGAGC 0.522 NaN 0 0 0 0.00623 0 37 114 ADCY2 108 broad.mit.edu 37 5 7789838 7789838 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:7789838G>A uc003jdz.1 + 20 2620 c.2553G>A c.(2551-2553)CTG>CTA p.L851L ADCY2_uc011cmo.1_Silent_p.L671L|ADCY2_uc010itm.1_Silent_p.L47L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 851 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 TGGAGAACCTGAACCGCGTGC 0.527 NaN 0 0 0 0.002096 0 33 83 FASTKD3 79072 broad.mit.edu 37 5 7861360 7861360 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:7861360C>G uc003jeb.2 - 6 1923 c.1786G>C c.(1786-1788)GAT>CAT p.D596H FASTKD3_uc011cmp.1_Missense_Mutation_p.D298H|FASTKD3_uc003jec.2_RNA NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 596 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TTTGGACCATCAATACACAGT 0.279 NaN 0 0 0 0.00278 0 22 87 DNAH5 1767 broad.mit.edu 37 5 13862845 13862845 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:13862845G>A uc003jfd.2 - 29 4650 c.4608C>T c.(4606-4608)ATC>ATT p.I1536I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1536 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) TCACCGCACTGATACAGATGT 0.413 NaN Kartagener_syndrome 0 0 0 0.007291 0 26 96 CDH10 1008 broad.mit.edu 37 5 24505321 24505321 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:24505321G>C uc003jgr.1 - 8 1625 c.1293C>G c.(1291-1293)ATC>ATG p.I431M CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 431 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GAATGTTAAAGATTCTGTCAA 0.363 NaN HNSCC(23;0.051) 0 0 0 0.006214 0 10 34 PDZD2 23037 broad.mit.edu 37 5 32087406 32087406 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:32087406C>T uc003jhl.2 + 20 4240 c.3852C>T c.(3850-3852)CTC>CTT p.L1284L PDZD2_uc003jhm.2_Silent_p.L1284L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1284 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAGTCAGGCTCCCCCATGAGG 0.622 NaN 0 0 0 0.004878 0 34 100 NIPBL 25836 broad.mit.edu 37 5 37064931 37064931 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:37064931G>A uc003jkl.3 + 47 8851 c.8352G>A c.(8350-8352)CTG>CTA p.L2784L NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2784 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTAATAAGCTGACTAATAAAG 0.408 NaN 0 0 0 0.002299 0 23 61 ITGA2 3673 broad.mit.edu 37 5 52371064 52371064 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:52371064G>A uc003joy.2 + 23 2898 c.2755G>A c.(2755-2757)GAA>AAA p.E919K ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E843K|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 919 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AAGCCAAGAAGAAAACAAGGC 0.348 NaN 0 0 0 0.003163 0 15 45 GZMA 3001 broad.mit.edu 37 5 54398580 54398580 + Missense_Mutation SNP G G C rs142297007 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54398580G>C uc003jpm.2 + 1 107 c.70G>C c.(70-72)GAT>CAT p.D24H NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 24 cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AATTCCTGAAGGTAAGACTGA 0.408 NaN 0 0 0 0.001523 0 21 81 DHX29 54505 broad.mit.edu 37 5 54567922 54567922 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54567922C>G uc003jpx.2 - 18 2977 c.2857G>C c.(2857-2859)GAA>CAA p.E953Q DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 953 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TACTTATTTTCTTTTGTTCTT 0.318 NaN 0 0 0 0.002522 0 45 31 DHX29 54505 broad.mit.edu 37 5 54585110 54585110 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54585110C>T uc003jpx.2 - 8 1174 c.1054G>A c.(1054-1056)GAA>AAA p.E352K DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 352 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTCTCTTCTTCAGTAGCAGCT 0.313 NaN 0 0 0 0.000978 0 11 86 SLC38A9 153129 broad.mit.edu 37 5 54922343 54922343 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:54922343C>G uc003jqf.2 - 16 1866 c.1665G>C c.(1663-1665)CTG>CTC p.L555L SLC38A9_uc003jqd.2_Silent_p.L492L|SLC38A9_uc010ivx.2_Silent_p.L492L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L426L NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 555 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) ACTGAACAATCAGGTTAGCCA 0.358 NaN 0 0 0 0.00361 0 85 90 ERBB2IP 55914 broad.mit.edu 37 5 65349978 65349978 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:65349978C>T uc003juk.1 + 21 3140 c.2832C>T c.(2830-2832)TTC>TTT p.F944F ERBB2IP_uc003jui.1_Silent_p.F944F|ERBB2IP_uc003juj.1_Silent_p.F944F|ERBB2IP_uc011cqx.1_Silent_p.F944F|ERBB2IP_uc011cqy.1_Silent_p.F944F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.F940F|ERBB2IP_uc003jul.1_Silent_p.F940F NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 944 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGGCAATTTTCAAGTTTGATT 0.403 NaN 0 0 0 0.008291 0 11 69 BDP1 55814 broad.mit.edu 37 5 70751838 70751838 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:70751838C>T uc003kbp.1 + 1 397 c.134C>T c.(133-135)TCC>TTC p.S45F BDP1_uc003kbn.1_Missense_Mutation_p.S45F|BDP1_uc003kbo.2_Missense_Mutation_p.S45F NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 45 Interaction with ZBTB43. 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) GACTCTGCTTCCAAGCCCGCG 0.632 NaN 0 0 0 0.00245 0 12 34 BDP1 55814 broad.mit.edu 37 5 70805391 70805391 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:70805391G>T uc003kbp.1 + 17 2735 c.2472G>T c.(2470-2472)AGG>AGT p.R824S BDP1_uc003kbn.1_Missense_Mutation_p.R824S|BDP1_uc003kbo.2_Missense_Mutation_p.R824S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 824 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate. 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) GAACTGGAAGGAGAGAAATTT 0.413 NaN 1 0 6.72482e-11 0.003163 8.35526e-11 14 106 HEXB 3074 broad.mit.edu 37 5 73981280 73981280 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:73981280G>A uc003kdf.3 + 1 312 c.195G>A c.(193-195)ATG>ATA p.M65I HEXB_uc003kdd.2_Intron|HEXB_uc003kde.2_Missense_Mutation_p.M65I|HEXB_uc010izh.2_RNA NM_000521 NP_000512 P07686 HEXB_HUMAN hexosaminidase B preproprotein 65 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TGGTGAAGATGACCCCGAACC 0.697 NaN 0 0 0 0.008291 0 10 20 SV2C 22987 broad.mit.edu 37 5 75621207 75621207 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:75621207C>G uc003kei.1 + 13 2153 c.2019C>G c.(2017-2019)TTC>TTG p.F673L NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 673 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCTTTGGCTTCTTAAATGCGC 0.463 NaN 0 0 0 0.00632 0 26 71 ZCCHC9 84240 broad.mit.edu 37 5 80604427 80604427 + Silent SNP C C T rs149561750 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:80604427C>T uc003khj.2 + 3 565 c.432C>T c.(430-432)CCC>CCT p.P144P RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P144P|ZCCHC9_uc003khi.2_Silent_p.P144P NM_001131035 NP_001124507 Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 144 CCHC-type 1. nucleic acid binding|zinc ion binding ovary(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) CAGATTGCCCCGCCGCCCTTG 0.473 NaN 0 0 0 0.001523 0 20 51 VCAN 1462 broad.mit.edu 37 5 82850806 82850806 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:82850806C>T uc003kii.3 + 12 10040 c.9684C>T c.(9682-9684)CTC>CTT p.L3228L VCAN_uc003kij.3_Silent_p.L2241L|VCAN_uc010jau.2_Silent_p.L1474L|VCAN_uc003kik.3_Silent_p.L487L|VCAN_uc003kil.3_Silent_p.L1892L NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3228 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGATAGGCCTCAATGACAAGA 0.403 NaN 0 0 0 0.00333 0 23 62 RASA1 5921 broad.mit.edu 37 5 86564633 86564633 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:86564633C>T uc003kiw.2 + 1 483 c.365C>T c.(364-366)TCG>TTG p.S122L RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.S122L NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 122 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGCCCACTTCGTTGCTTGCT 0.473 NaN 0 0 0 0.004482 0 6 27 FBXL17 64839 broad.mit.edu 37 5 107521822 107521822 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:107521822C>T uc011cvc.1 - 6 2148 c.1741G>A c.(1741-1743)GAC>AAC p.D581N FBXL17_uc003kon.3_Missense_Mutation_p.D183N NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 581 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GGTTACCTGTCATTTATGATC 0.313 NaN 0 0 0 0.001984 0 6 45 ZNF608 57507 broad.mit.edu 37 5 123983433 123983433 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:123983433C>T uc003ktq.1 - 4 2767 c.2644G>A c.(2644-2646)GAG>AAG p.E882K ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.E882K|ZNF608_uc003ktt.1_Missense_Mutation_p.E882K NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 882 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTATCGGCCTCAGCTTTGATA 0.527 NaN 0 0 0 0.00245 0 14 87 C5orf56 441108 broad.mit.edu 37 5 131796262 131796262 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:131796262C>G uc003kwy.1 + 4 228 c.97C>G c.(97-99)CAA>GAA p.Q33E C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron NM_001013717 NP_001013739 Q8N8D9 CE056_HUMAN hypothetical protein LOC441108 33 0 agggaatcttcaaactcttct 0.02 NaN 0 0 0 0.003755 0 33 254 SKP1 6500 broad.mit.edu 37 5 133502935 133502935 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:133502935C>T uc003kzc.3 - 3 277 c.98_splice c.e3-1 p.D33_splice SKP1_uc003kzd.3_Splice_Site_p.D33_splice|SKP1_uc010jdv.2_Splice_Site_p.D33_splice NM_170679 NP_733779 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 isoform b anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTCCCAAATCTAAGAAAACC 0.299 NaN 0 0 0 0.000978 0 12 69 HSPA9 3313 broad.mit.edu 37 5 137902369 137902369 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:137902369C>G uc003ldf.2 - 9 1026 c.918G>C c.(916-918)CAG>CAC p.Q306H HSPA9_uc011cyw.1_Missense_Mutation_p.Q237H NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 306 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCCGTACCCTCTGAAGTGCCA 0.438 NaN 0 0 0 0.004656 0 22 185 SLC35A4 113829 broad.mit.edu 37 5 139947635 139947635 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:139947635C>T uc003lgg.1 + 3 1609 c.881C>T c.(880-882)TCA>TTA p.S294L SLC35A4_uc003lgh.1_Missense_Mutation_p.S294L NM_080670 NP_542401 Q96G79 S35A4_HUMAN solute carrier family 35, member A4 294 Leu-rich.|Helical; (Potential). Golgi membrane|integral to membrane sugar:hydrogen symporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGCTCTCAGCAGTCCTG 0.592 NaN 0 0 0 0.007413 0 19 49 PCDHA5 56143 broad.mit.edu 37 5 140202747 140202747 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140202747G>A uc003lhl.2 + 1 1387 c.1387G>A c.(1387-1389)GTG>ATG p.V463M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V463M|PCDHA5_uc003lhj.1_Missense_Mutation_p.V463M NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 463 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCGTGTTCGTGAAGGAGAA 0.662 NaN 0 0 0 0.00632 0 28 94 PCDHA6 56142 broad.mit.edu 37 5 140209836 140209836 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140209836G>A uc003lho.2 + 1 2187 c.2160G>A c.(2158-2160)GCG>GCA p.A720A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.A720A NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 720 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACACAGCGCTGCGGTGCT 0.677 NaN 0 0 0 0.000978 0 12 79 PCDHA8 56140 broad.mit.edu 37 5 140222611 140222611 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140222611C>G uc003lhs.2 + 1 1705 c.1705C>G c.(1705-1707)CGG>GGG p.R569G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R569G NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 569 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGAGCCTCGGGTGGGTGG 0.721 NaN 0 0 0 0.005524 0 36 76 PCDHA9 9752 broad.mit.edu 37 5 140228108 140228108 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140228108G>C uc003lhu.2 + 1 752 c.28G>C c.(28-30)GAG>CAG p.E10Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.E10Q NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGATCCAGAGGGTCAGCC 0.493 NaN 0 0 0 0.00361 0 50 113 PCDHA10 56139 broad.mit.edu 37 5 140236081 140236081 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140236081C>G uc003lhx.2 + 1 448 c.448C>G c.(448-450)CGA>GGA p.R150G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R150G|PCDHA10_uc011dad.1_Missense_Mutation_p.R150G NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 150 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGACTCTCGATTTCCACT 0.438 NaN 0 0 0 0.00361 0 66 130 PCDHB6 56130 broad.mit.edu 37 5 140530815 140530815 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140530815C>T uc003lir.2 + 1 977 c.977C>T c.(976-978)TCA>TTA p.S326L PCDHB6_uc011dah.1_Missense_Mutation_p.S190L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 326 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGCCTATCAGGAAAATGC 0.468 NaN 0 0 0 0.004007 0 17 48 PCDHB7 56129 broad.mit.edu 37 5 140554506 140554506 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140554506C>T uc003lit.2 + 1 2264 c.2090C>T c.(2089-2091)TCG>TTG p.S697L PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 697 Helical; (Potential). 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) TCGGTGTCTTCGCTCTTCCTC 0.706 NaN 0 0 0 0.003755 0 35 375 PCDHB11 56125 broad.mit.edu 37 5 140580555 140580555 + Nonsense_Mutation SNP T T A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140580555T>A uc003liy.2 + 1 1208 c.1208T>A c.(1207-1209)TTG>TAG p.L403* PCDHB11_uc011daj.1_Nonsense_Mutation_p.L38* NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 403 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACTACACGTTGGAAACAGAG 0.478 NaN 0 0 0 0.001882 0 20 114 PCDHB13 56123 broad.mit.edu 37 5 140596055 140596055 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140596055C>G uc003lja.1 + 1 2547 c.2360C>G c.(2359-2361)TCT>TGT p.S787C NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 787 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGGAAATTCTACCTTCCCC 0.428 NaN 0 0 0 0.003163 0 14 76 PCDHGA3 56112 broad.mit.edu 37 5 140724723 140724723 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140724723G>C uc003ljm.1 + 1 1123 c.1123G>C c.(1123-1125)GAT>CAT p.D375H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.D135H|PCDHGA3_uc011dap.1_Missense_Mutation_p.D375H NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 375 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGACCGAGATTCTGGGCA 0.448 NaN 0 0 0 0.00333 0 23 99 PCDHGB3 56102 broad.mit.edu 37 5 140750497 140750497 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140750497C>G uc003ljw.1 + 1 536 c.536C>G c.(535-537)TCT>TGT p.S179C 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_uc011dat.1_Missense_Mutation_p.S179C NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 179 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCACTTCTCTTTGATTCAG 0.542 NaN 0 0 0 0.00361 0 92 170 PCDHGB4 8641 broad.mit.edu 37 5 140769071 140769071 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140769071C>G uc003lkc.1 + 1 1620 c.1620C>G c.(1618-1620)CTC>CTG p.L540L 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_uc011dav.1_Silent_p.L540L NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 540 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCAGCGCTCAGCGCGAACG 0.701 NaN 0 0 0 0.001984 0 7 50 PCDHGB6 56100 broad.mit.edu 37 5 140788139 140788139 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:140788139G>A uc003lkj.1 + 1 370 c.370G>A c.(370-372)GAG>AAG p.E124K 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_uc003lki.1_Missense_Mutation_p.E124K NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 124 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGTGATTGAGGATGTTAA 0.398 NaN 0 0 0 0.00361 0 47 88 ARAP3 64411 broad.mit.edu 37 5 141041670 141041670 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:141041670G>A uc003llm.2 - 20 3031 c.2953C>T c.(2953-2955)CGT>TGT p.R985C ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R647C|ARAP3_uc003lln.2_Intron NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 985 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TCGAGCTCACGAAAGAAGCGT 0.592 NaN 0 0 0 0.003954 0 22 103 GRXCR2 643226 broad.mit.edu 37 5 145252372 145252372 + Silent SNP G G A rs150272088 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:145252372G>A uc003lns.1 - 1 160 c.160C>T c.(160-162)CTG>TTG p.L54L NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 54 0 GACTCTTGCAGAAAACTGTGA 0.493 NaN 0 0 0 0.005524 0 40 92 RBM27 54439 broad.mit.edu 37 5 145641356 145641356 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:145641356G>A uc003lnz.3 + 13 2343 c.2177G>A c.(2176-2178)GGA>GAA p.G726E RBM27_uc003lny.2_Missense_Mutation_p.G671E NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 726 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAGTGCACGGAGGTATCCAG 0.478 NaN 0 0 0 0.000978 0 11 39 ARHGEF37 389337 broad.mit.edu 37 5 149006694 149006694 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:149006694C>G uc003lra.1 + 11 1584 c.1520C>G c.(1519-1521)CCT>CGT p.P507R NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 507 SH3 1. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 AGGTATGGCCCTGGGAAGCTG 0.577 NaN 0 0 0 0.003954 0 25 146 TCOF1 6949 broad.mit.edu 37 5 149748414 149748414 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:149748414G>A uc003lry.2 + 5 622 c.514G>A c.(514-516)GAA>AAA p.E172K TCOF1_uc003lrw.2_Missense_Mutation_p.E172K|TCOF1_uc011dch.1_Missense_Mutation_p.E172K|TCOF1_uc003lrz.2_Missense_Mutation_p.E172K|TCOF1_uc003lrx.2_Missense_Mutation_p.E172K|TCOF1_uc003lsa.2_Missense_Mutation_p.E172K NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 172 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTGGTCTCAGAAACTGAGGA 0.582 NaN 0 0 0 0.001882 0 21 54 LARP1 23367 broad.mit.edu 37 5 154173531 154173531 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:154173531G>T uc003lvp.2 + 6 1469 c.1040G>T c.(1039-1041)GGC>GTC p.G347V LARP1_uc003lvo.2_Missense_Mutation_p.G270V|LARP1_uc010jie.1_Missense_Mutation_p.G142V NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 347 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTGGTCGCGGCCGGGGACGC 0.692 NaN 1 0 3.59834e-05 0.001168 4.30724e-05 6 80 KIF4B 285643 broad.mit.edu 37 5 154393975 154393975 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:154393975G>T uc010jih.1 + 1 716 c.556G>T c.(556-558)GAT>TAT p.D186Y NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 186 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGTTGCCTTGGATACTGTTTC 0.468 NaN 1 0 0.00621372 0.006214 0.00734024 10 224 TIMD4 91937 broad.mit.edu 37 5 156353320 156353320 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:156353320G>C uc003lwh.2 - 6 905 c.848C>G c.(847-849)TCT>TGT p.S283C TIMD4_uc010jii.2_Missense_Mutation_p.S255C|TIMD4_uc003lwg.2_Translation_Start_Site NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 283 Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCTGTATCAGATGCTGGGAA 0.358 NaN 0 0 0 0.008291 0 9 31 GABRA6 2559 broad.mit.edu 37 5 161116300 161116300 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:161116300T>G uc003lyu.2 + 5 825 c.487T>G c.(487-489)TTT>GTT p.F163V GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 163 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTGGTTAACTTTCCTATGGA 0.398 NaN TCGA Ovarian(5;0.080) 0 0 0 0.004656 0 23 89 SLIT3 6586 broad.mit.edu 37 5 168119694 168119694 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:168119694C>T uc003mab.2 - 29 3514 c.3094G>A c.(3094-3096)GAC>AAC p.D1032N SLIT3_uc010jjg.2_Missense_Mutation_p.D1039N NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1032 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCACCTCGTCGCATAGCTCA 0.577 NaN 0 0 0 0.004007 0 15 36 NSD1 64324 broad.mit.edu 37 5 176637917 176637917 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:176637917G>A uc003mfr.3 + 5 2655 c.2517G>A c.(2515-2517)CTG>CTA p.L839L NSD1_uc003mft.3_Silent_p.L570L|NSD1_uc003mfs.1_Silent_p.L736L|NSD1_uc011dfx.1_Silent_p.L487L NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 839 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TAAAACTACTGAACAATATGC 0.408 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.004007 0 16 52 PFN3 345456 broad.mit.edu 37 5 176827416 176827416 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:176827416C>T uc003mgl.2 - 1 222 c.162G>A c.(160-162)CCG>CCA p.P54P NM_001029886 NP_001025057 P60673 PROF3_HUMAN profilin 3 54 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding 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) TGTGCCTGTCCGGCCCCGTGA 0.746 NaN 0 0 0 0.000248 0 4 5 COL23A1 91522 broad.mit.edu 37 5 177690292 177690292 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:177690292G>C uc003mje.2 - 9 914 c.556C>G c.(556-558)CCG>GCG p.P186A COL23A1_uc010jkt.2_Silent_p.L33L NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 186 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GGGGGCCCCGGAGGCCCAGCA 0.672 NaN 0 0 0 0.001855 0 11 21 RNF130 55819 broad.mit.edu 37 5 179390562 179390562 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:179390562C>T uc003mll.1 - 8 1560 c.1153G>A c.(1153-1155)GAA>AAA p.E385K RNF130_uc003mlm.1_Intron NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 385 Cytoplasmic (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATAAACCATTCTTCTGTTGAC 0.448 NaN 0 0 0 0.008291 0 8 11 GFPT2 9945 broad.mit.edu 37 5 179745840 179745840 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:179745840G>C uc003mlw.1 - 10 1009 c.911C>G c.(910-912)TCT>TGT p.S304C NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 304 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GATGGCTCGAGATGGGTCATC 0.607 NaN 0 0 0 0.00245 0 14 37 FLT4 2324 broad.mit.edu 37 5 180041111 180041111 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:180041111G>A uc003mma.3 - 24 3367 c.3288C>T c.(3286-3288)GAC>GAT p.D1096D FLT4_uc003mlz.3_Silent_p.D1096D NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1096 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGGACCACACGTCACTCTGCG 0.622 NaN Congenital_Hereditary_Lymphedema 0 0 0 0.003755 0 33 51 RREB1 6239 broad.mit.edu 37 6 7229506 7229506 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:7229506C>T uc003mxc.2 + 10 1564 c.1174C>T c.(1174-1176)CAG>TAG p.Q392* RREB1_uc003mxb.2_Nonsense_Mutation_p.Q392*|RREB1_uc010jnx.2_Nonsense_Mutation_p.Q392* NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 392 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCAGGCAATTCAGCTCCAGAC 0.622 NaN 0 0 0 0.00308 0 8 38 DSP 1832 broad.mit.edu 37 6 7583844 7583844 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:7583844G>C uc003mxp.1 + 24 6628 c.6349G>C c.(6349-6351)GAT>CAT p.D2117H DSP_uc003mxq.1_Missense_Mutation_p.D1518H NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2117 Globular 2.|Plectin 3. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAATTTGATTGATAGAGAAAC 0.443 NaN 0 0 0 0.00632 0 27 109 NEDD9 4739 broad.mit.edu 37 6 11190647 11190647 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:11190647C>T uc003mzv.2 - 5 1622 c.1455G>A c.(1453-1455)ATG>ATA p.M485I NEDD9_uc010joz.2_Missense_Mutation_p.M485I|NEDD9_uc003mzw.3_Missense_Mutation_p.M339I NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 485 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GCTCCCGCTTCATCTTGTTGT 0.522 NaN 0 0 0 0.001368 0 12 38 SIRT5 23408 broad.mit.edu 37 6 13592071 13592071 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:13592071G>A uc003nay.2 + 5 716 c.420G>A c.(418-420)CAG>CAA p.Q140Q SIRT5_uc003naw.2_Silent_p.Q140Q|SIRT5_uc003nax.2_Silent_p.Q32Q|SIRT5_uc011dit.1_Silent_p.Q140Q NM_012241 NP_036373 Q9NXA8 SIRT5_HUMAN sirtuin 5 isoform 1 140 NAD.|Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding skin(2)|upper_aerodigestive_tract(1) 3 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TCATCACCCAGAACATCGATG 0.617 NaN 0 0 0 0.001855 0 12 46 HIST1H2BE 8344 broad.mit.edu 37 6 26184038 26184038 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:26184038G>A uc003ngt.2 + 1 15 c.15G>A c.(13-15)GCG>GCA p.A5A NM_003523 NP_003514 P62807 H2B1C_HUMAN histone cluster 1, H2be 5 A -> S (in Ref. 2; CAB02545). defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CTGAGCCAGCGAAATCCGCTC 0.512 NaN 0 0 0 0.007291 0 29 73 HIST1H2AG 8969 broad.mit.edu 37 6 27101075 27101075 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:27101075G>C uc003niw.2 + 1 259 c.225G>C c.(223-225)AAG>AAC p.K75N HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 75 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GCGACAACAAGAAGACCCGCA 0.662 NaN 0 0 0 0.00499 0 16 91 ZNF311 282890 broad.mit.edu 37 6 28966565 28966565 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:28966565C>G uc003nlu.2 - 6 874 c.361G>C c.(361-363)GAC>CAC p.D121H ZNF311_uc011dlk.1_Missense_Mutation_p.D29H|ZNF311_uc003nlv.2_Missense_Mutation_p.D29H NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 ACACAGGGGTCTACTTCTCGC 0.448 NaN 0 0 0 0.000978 0 10 68 OR11A1 26531 broad.mit.edu 37 6 29394644 29394644 + Missense_Mutation SNP A A G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:29394644A>G uc003nmg.2 - 1 866 c.775T>C c.(775-777)TTT>CTT p.F259L NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCAACATAAAAGATCATGAGC 0.522 NaN 0 0 0 0.003163 0 15 89 HLA-F 3134 broad.mit.edu 37 6 29694183 29694183 + Nonstop_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:29694183G>T uc010jrl.2 + 7 1164 c.1040G>T c.(1039-1041)TGA>TTA p.*347L HLA-F_uc003nnm.3_Nonstop_Mutation_p.*255L|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 347 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TCTATAGTGTGAGACAGCTTC 0.353 NaN 1 0 9.70103e-10 0.008291 1.19807e-09 9 47 ABCF1 23 broad.mit.edu 37 6 30552094 30552094 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:30552094G>A uc003nql.2 + 13 1323 c.1228G>A c.(1228-1230)GAG>AAG p.E410K ABCF1_uc003nqk.2_Missense_Mutation_p.E411K|ABCF1_uc003nqm.2_Missense_Mutation_p.E372K|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 410 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 CACAGCTGCTGAGAGGCTAGA 0.597 NaN 0 0 0 0.001523 0 19 65 BAT4 7918 broad.mit.edu 37 6 31631705 31631705 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31631705G>A uc003nvn.2 - 2 1196 c.551C>T c.(550-552)GCT>GTT p.A184V BAT4_uc003nvo.3_Missense_Mutation_p.A184V|BAT4_uc003nvp.3_Missense_Mutation_p.A184V|BAT4_uc003nvq.2_Missense_Mutation_p.A184V|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank NM_033177 NP_149417 O95872 GPAN1_HUMAN HLA-B associated transcript 4 184 intracellular nucleic acid binding 0 AGCTTCTTCAGCGAGCTGAGC 0.642 NaN 0 0 0 0.007413 0 19 40 LY6G6F 259215 broad.mit.edu 37 6 31685395 31685395 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31685395C>G uc003nwb.1 + 6 963 c.963C>G c.(961-963)GTC>GTG p.V321V LY6G6D_uc003nwf.1_Silent_p.V72V|LY6G6D_uc003nwg.1_Silent_p.V51V NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor Error:Variant_position_missing_in_Q5SQ64_after_alignment integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 CAGCCTGCGTCGCAGCCCATC 0.577 NaN 0 0 0 0.00361 0 74 195 MSH5 4439 broad.mit.edu 37 6 31711763 31711763 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:31711763C>G uc003nwv.1 + 6 577 c.498C>G c.(496-498)CTC>CTG p.L166L MSH5_uc003nwt.1_Silent_p.L166L|MSH5_uc003nwu.1_Silent_p.L166L|MSH5_uc003nww.1_Silent_p.L166L|MSH5_uc003nwx.1_Silent_p.L166L|MSH5_uc011dof.1_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 166 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 AGAAAATCCTCTTCCTCTCTT 0.517 NaN Direct_reversal_of_damage|MMR 0 0 0 0.005524 0 37 228 TNXB 7148 broad.mit.edu 37 6 32026081 32026081 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:32026081C>T uc003nzl.2 - 22 7781 c.7579G>A c.(7579-7581)GAG>AAG p.E2527K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2587 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACTGTCAGCTCCCCCAGGAGA 0.627 NaN 0 0 0 0.00308 0 8 32 PHF1 5252 broad.mit.edu 37 6 33380560 33380560 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33380560G>A uc003oeh.2 + 4 563 c.327G>A c.(325-327)AAG>AAA p.K109K PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.K109K|PHF1_uc010jux.2_Intron NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 109 PHD-type 1. chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) GCTGTGAGAAGTGTCGCCATG 0.577 NaN 0 0 0 0.008871 0 19 50 PHF1 5252 broad.mit.edu 37 6 33383647 33383647 + Silent SNP G G C rs138734488 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383647G>C uc003oeh.2 + 15 1712 c.1476G>C c.(1474-1476)TCG>TCC p.S492S PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R457P|PHF1_uc010jux.2_Silent_p.S292S NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 492 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) CCCCCCACTCGATGACTGCCT 0.542 NaN 0 0 0 0.003755 0 32 105 PHF1 5252 broad.mit.edu 37 6 33383743 33383743 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383743G>A uc003oeh.2 + 15 1808 c.1572G>A c.(1570-1572)GGG>GGA p.G524G PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Silent_p.G324G NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 524 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) TGTCTCCTGGGACTGGGGGAG 0.612 NaN 0 0 0 0.003755 0 36 101 PHF1 5252 broad.mit.edu 37 6 33383754 33383754 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:33383754G>C uc003oeh.2 + 15 1819 c.1583G>C c.(1582-1584)GGA>GCA p.G528A PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Missense_Mutation_p.G328A NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 528 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) ACTGGGGGAGGAGTCCGAGGT 0.617 NaN 0 0 0 0.00278 0 22 123 USP49 25862 broad.mit.edu 37 6 41774070 41774070 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:41774070C>T uc003ori.2 - 4 874 c.652G>A c.(652-654)GAC>AAC p.D218N NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 218 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gggcccgcgtcgcggggcgTG 0.577 NaN 0 0 0 0.00308 0 8 12 UBR2 23304 broad.mit.edu 37 6 42655960 42655960 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:42655960G>A uc011dur.1 + 45 4860 c.4860G>A c.(4858-4860)CCG>CCA p.P1620P UBR2_uc011dus.1_Silent_p.P1265P|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.P208P|UBR2_uc011duu.1_Silent_p.P12P NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1620 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GGAGGTGCCCGAAATCAGGTG 0.428 NaN 0 0 0 0.004007 0 17 119 CUL9 23113 broad.mit.edu 37 6 43172787 43172787 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:43172787C>T uc003ouk.2 + 23 4641 c.4566C>T c.(4564-4566)TTC>TTT p.F1522F CUL9_uc003oul.2_Silent_p.F1522F|CUL9_uc010jyk.2_Silent_p.F674F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1522 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GGGCAGCCTTCATGCTGGCTC 0.602 NaN 0 0 0 0.004656 0 26 59 CAPN11 11131 broad.mit.edu 37 6 44148506 44148506 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:44148506G>A uc003owt.1 + 17 1806 c.1768G>A c.(1768-1770)GAG>AAG p.E590K CAPN11_uc011dvn.1_Missense_Mutation_p.E244K NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 590 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGGGTGTATGAGCTCCAGAG 0.602 NaN 0 0 0 0.00245 0 12 46 HSP90AB1 3326 broad.mit.edu 37 6 44219877 44219877 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:44219877C>G uc003oxa.1 + 10 1688 c.1604C>G c.(1603-1605)TCA>TGA p.S535* HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.S525*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.S535*|HSP90AB1_uc011dvs.1_Nonsense_Mutation_p.S355*|HSP90AB1_uc003oxc.1_Nonsense_Mutation_p.S173* NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 535 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGCCTGGTCTCAGTTACCAAG 0.517 NaN 0 0 0 0.001984 0 7 38 TDRD6 221400 broad.mit.edu 37 6 46660346 46660346 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660346G>C uc003oyj.2 + 1 4481 c.4481G>C c.(4480-4482)AGT>ACT p.S1494T TDRD6_uc010jze.2_Missense_Mutation_p.S1488T NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1494 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTAATTAAAAGTGCCAGTTCA 0.348 NaN 0 0 0 0.008291 0 10 68 TDRD6 221400 broad.mit.edu 37 6 46660716 46660716 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660716C>G uc003oyj.2 + 1 4851 c.4851C>G c.(4849-4851)CTC>CTG p.L1617L TDRD6_uc010jze.2_Silent_p.L1611L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1617 Tudor 7. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CAAAAGCACTCTGGGCCATTC 0.423 NaN 0 0 0 0.001523 0 17 81 TDRD6 221400 broad.mit.edu 37 6 46660747 46660747 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46660747C>G uc003oyj.2 + 1 4882 c.4882C>G c.(4882-4884)CCC>GCC p.P1628A TDRD6_uc010jze.2_Missense_Mutation_p.P1622A NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1628 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TCTGTCGGTTCCCATGCAAGC 0.413 NaN 0 0 0 0.001882 0 22 67 TDRD6 221400 broad.mit.edu 37 6 46661399 46661399 + Nonsense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46661399C>G uc003oyj.2 + 1 5534 c.5534C>G c.(5533-5535)TCA>TGA p.S1845* TDRD6_uc010jze.2_Nonsense_Mutation_p.S1839* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1845 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GATGATGAATCAAAAGAATTC 0.418 NaN 0 0 0 0.000978 0 11 71 TDRD6 221400 broad.mit.edu 37 6 46665740 46665740 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46665740G>C uc003oyj.2 + 3 6177 c.6177G>C c.(6175-6177)TTG>TTC p.L2059F TDRD6_uc010jze.2_Intron NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 2059 Tudor 8. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TGTAGGTTTTGAACCTTTCAA 0.308 NaN 0 0 0 0.002096 0 28 135 GPR110 266977 broad.mit.edu 37 6 46996735 46996735 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:46996735G>A uc003oyt.2 - 2 262 c.63C>T c.(61-63)TTC>TTT p.F21F GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Silent_p.F21F NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 21 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TCACCCCCAGGAAGCCACCGT 0.517 NaN 0 0 0 0.000978 0 9 51 PGK2 5232 broad.mit.edu 37 6 49754286 49754286 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:49754286C>T uc003ozu.2 - 1 722 c.615G>A c.(613-615)GTG>GTA p.V205V NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 205 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) GAAAGGGTCTCACTGGGTTTT 0.433 NaN 0 0 0 0.006122 0 19 80 FAM83B 222584 broad.mit.edu 37 6 54805774 54805774 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:54805774G>C uc003pck.2 + 5 2121 c.2005G>C c.(2005-2007)GAC>CAC p.D669H NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 669 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CCCGTTATTTGACAACTCAAA 0.343 NaN 0 0 0 0.007413 0 17 65 KCNQ5 56479 broad.mit.edu 37 6 73751754 73751754 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:73751754G>A uc003pgk.2 + 3 932 c.585G>A c.(583-585)CTG>CTA p.L195L KCNQ5_uc003pgj.3_Silent_p.L195L|KCNQ5_uc011dyh.1_Silent_p.L195L|KCNQ5_uc011dyi.1_Silent_p.L195L|KCNQ5_uc010kat.2_Silent_p.L195L|KCNQ5_uc011dyj.1_Silent_p.L195L|KCNQ5_uc011dyk.1_Intron NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 195 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAGGAAGACTGAGGTTTGCTC 0.438 NaN 0 0 0 0.007291 0 27 122 KCNQ5 56479 broad.mit.edu 37 6 73904609 73904609 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:73904609C>G uc003pgk.2 + 14 2618 c.2271C>G c.(2269-2271)ATC>ATG p.I757M KCNQ5_uc011dyh.1_Missense_Mutation_p.I776M|KCNQ5_uc011dyi.1_Missense_Mutation_p.I767M|KCNQ5_uc010kat.2_Missense_Mutation_p.I748M|KCNQ5_uc011dyj.1_Missense_Mutation_p.I647M|KCNQ5_uc011dyk.1_Missense_Mutation_p.I507M NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 757 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TCCCAGCCATCAAGCATCTGC 0.537 NaN 0 0 0 0.007413 0 17 34 C6orf150 115004 broad.mit.edu 37 6 74150012 74150012 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:74150012G>T uc003pgx.1 - 3 1173 c.1034C>A c.(1033-1035)TCA>TAA p.S345* NM_138441 NP_612450 Q8N884 M21D1_HUMAN hypothetical protein LOC115004 345 0 AACTTTTGCTGAAAGCCAGTT 0.393 NaN 1 0 1.2476e-16 0.00632 1.57315e-16 30 76 CD109 135228 broad.mit.edu 37 6 74502507 74502507 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:74502507C>T uc003php.2 + 23 3285 c.2860C>T c.(2860-2862)CTT>TTT p.L954F CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.L954F|CD109_uc010kba.2_Missense_Mutation_p.L877F NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 954 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 AGAAAAAGCTCTTTCATTTAT 0.303 NaN 0 0 0 0.006214 0 10 35 COL12A1 1303 broad.mit.edu 37 6 75831126 75831126 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:75831126G>C uc003phs.2 - 44 7144 c.6978C>G c.(6976-6978)TTC>TTG p.F2326L COL12A1_uc003pht.2_Missense_Mutation_p.F1162L NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2326 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CATCAGTCAAGAACACAATAT 0.388 NaN 0 0 0 0.00632 0 25 79 MDN1 23195 broad.mit.edu 37 6 90442463 90442463 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:90442463G>A uc003pnn.1 - 34 4871 c.4755C>T c.(4753-4755)TTC>TTT p.F1585F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1585 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCCAGTCAATGAAATCCAGCA 0.438 NaN 0 0 0 0.003163 0 14 88 CASP8AP2 9994 broad.mit.edu 37 6 90577917 90577917 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:90577917G>C uc003pnr.2 + 8 5104 c.4908G>C c.(4906-4908)AAG>AAC p.K1636N CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1636N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1636N NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1636 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTTCAGATAAGATGGGTCATA 0.368 NaN 0 0 0 0.003163 0 14 45 GPR63 81491 broad.mit.edu 37 6 97247300 97247300 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:97247300C>A uc010kcl.2 - 3 786 c.308G>T c.(307-309)TGC>TTC p.C103F GPR63_uc003pou.2_Missense_Mutation_p.C103F NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 103 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AACCATGAGGCAAACAACCAA 0.443 NaN 1 0 3.45872e-05 0.004007 4.147e-05 16 44 MICAL1 64780 broad.mit.edu 37 6 109769984 109769984 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:109769984C>T uc003ptj.2 - 11 1869 c.1615G>A c.(1615-1617)GAT>AAT p.D539N MICAL1_uc003ptk.2_Missense_Mutation_p.D539N|MICAL1_uc010kdr.2_Missense_Mutation_p.D453N|MICAL1_uc011eaq.1_Missense_Mutation_p.D558N NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 539 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GCTAGCCCATCAGCCCAGGAG 0.622 NaN 0 0 0 0.00361 0 56 122 RWDD1 51389 broad.mit.edu 37 6 116892761 116892761 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116892761G>A uc003pxd.2 + 1 179 c.16G>A c.(16-18)GAG>AAG p.E6K RWDD1_uc003pxb.2_5'UTR|RWDD1_uc003pxc.2_5'UTR NM_015952 NP_057036 Q9H446 RWDD1_HUMAN RWD domain containing 1 isoform a 6 protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) AGATTACGGCGAGGAGCAGCG 0.677 NaN 0 0 0 0.004482 0 7 36 RWDD1 51389 broad.mit.edu 37 6 116914217 116914217 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116914217G>A uc003pxd.2 + 7 848 c.685G>A c.(685-687)GAT>AAT p.D229N RWDD1_uc003pxb.2_Missense_Mutation_p.D133N|RWDD1_uc003pxc.2_Missense_Mutation_p.D133N NM_015952 NP_057036 Q9H446 RWDD1_HUMAN RWD domain containing 1 isoform a 229 protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TGATGAAGATGATCCAGACTA 0.468 NaN 0 0 0 0.000978 0 12 50 RSPH4A 345895 broad.mit.edu 37 6 116938321 116938321 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:116938321G>A uc003pxe.2 + 1 680 c.535G>A c.(535-537)GAC>AAC p.D179N RSPH4A_uc010kee.2_Missense_Mutation_p.D179N NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 179 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 GCTGAGATTTGACGTTTTTCA 0.502 NaN Kartagener_syndrome 0 0 0 0.004656 0 26 155 GPRC6A 222545 broad.mit.edu 37 6 117127555 117127555 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:117127555G>A uc003pxj.1 - 3 1335 c.1313C>T c.(1312-1314)CCC>CTC p.P438L GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P438L NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 438 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAAGGCGTTGGGGTTCTGACA 0.448 NaN 0 0 0 0.000978 0 12 50 HSF2 3298 broad.mit.edu 37 6 122743440 122743440 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:122743440C>G uc003pyu.2 + 8 1014 c.827C>G c.(826-828)TCC>TGC p.S276C HSF2_uc003pyv.2_Missense_Mutation_p.S276C NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 276 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TCTGATCCCTCCAAGTAAGGA 0.274 NaN 0 0 0 0.00361 0 43 165 CTGF 1490 broad.mit.edu 37 6 132271151 132271151 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:132271151C>G uc003qcz.2 - 4 897 c.691G>C c.(691-693)GAG>CAG p.E231Q NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 231 TSP type-1. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CTCTGCTTCTCTAGCCTGCAG 0.537 NaN OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004007 0 14 31 AHI1 54806 broad.mit.edu 37 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:135679284C>G uc003qgi.2 - 24 3535 c.3151G>C c.(3151-3153)GAT>CAT p.D1051H AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.D501H|AHI1_uc003qgh.2_Missense_Mutation_p.D1051H|AHI1_uc003qgj.2_Missense_Mutation_p.D1051H|AHI1_uc003qgk.3_RNA NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 1051 SH3. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GGTGCTGTATCTACCTGATGG 0.353 NaN 0 0 0 0.00361 0 75 295 MAP7 9053 broad.mit.edu 37 6 136681163 136681163 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:136681163C>G uc003qgz.2 - 14 2056 c.1810G>C c.(1810-1812)GAG>CAG p.E604Q MAP7_uc011edf.1_Missense_Mutation_p.E589Q|MAP7_uc011edg.1_Missense_Mutation_p.E634Q|MAP7_uc010kgu.2_Missense_Mutation_p.E626Q|MAP7_uc011edh.1_Missense_Mutation_p.E589Q|MAP7_uc010kgv.2_Missense_Mutation_p.E626Q|MAP7_uc010kgs.2_Missense_Mutation_p.E458Q|MAP7_uc011edi.1_Missense_Mutation_p.E458Q|MAP7_uc010kgq.1_Missense_Mutation_p.E510Q|MAP7_uc003qha.1_Missense_Mutation_p.E567Q NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 604 Potential. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ATAATCTCCTCAAGTCGCTAT 0.343 NaN 0 0 0 0.006122 0 18 51 KIAA1244 57221 broad.mit.edu 37 6 138612877 138612877 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:138612877G>C uc003qhu.2 + 19 3055 c.3055G>C c.(3055-3057)GAA>CAA p.E1019Q NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1019 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TAGGGTGTGTGAATACGTGGG 0.602 NaN 0 0 0 0.000248 0 4 13 TAB2 23118 broad.mit.edu 37 6 149700238 149700238 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:149700238G>C uc003qmj.2 + 3 1365 c.1187G>C c.(1186-1188)GGA>GCA p.G396A TAB2_uc011eec.1_Missense_Mutation_p.G364A|TAB2_uc010kia.1_Missense_Mutation_p.G396A|TAB2_uc010kib.1_Missense_Mutation_p.G396A|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 396 activation of MAPK activity|heart development|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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 K63-linked polyubiquitin binding|zinc ion binding 0 GCTGCCACAGGAGATGAACAG 0.512 NaN 0 0 0 0.008291 0 10 45 TAB2 23118 broad.mit.edu 37 6 149730837 149730837 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:149730837G>C uc003qmj.2 + 7 2242 c.2064G>C c.(2062-2064)GAG>GAC p.E688D TAB2_uc011eec.1_Missense_Mutation_p.E656D|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 688 RanBP2-type. activation of MAPK activity|heart development|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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 K63-linked polyubiquitin binding|zinc ion binding 0 AACAGTGTGAGATGCCAAGGC 0.433 NaN 0 0 0 0.005524 0 36 100 SYNE1 23345 broad.mit.edu 37 6 152551728 152551728 + Missense_Mutation SNP C C G rs143639400 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:152551728C>G uc010kiw.2 - 115 21751 c.21149G>C c.(21148-21150)CGA>CCA p.R7050P SYNE1_uc010kiv.2_Missense_Mutation_p.R1574P|SYNE1_uc003qos.3_Missense_Mutation_p.R1574P|SYNE1_uc003qot.3_Missense_Mutation_p.R6979P|SYNE1_uc003qou.3_Missense_Mutation_p.R7050P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7050 Cytoplasmic (Potential).|Spectrin 22. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCTCCAATTCGATGCTGTTG 0.393 NaN HNSCC(10;0.0054) 0 0 0 0.004656 0 25 131 SYTL3 94120 broad.mit.edu 37 6 159181754 159181754 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:159181754G>A uc003qrp.2 + 14 1635 c.1391G>A c.(1390-1392)AGA>AAA p.R464K SYTL3_uc011efp.1_Missense_Mutation_p.R464K|SYTL3_uc003qro.2_Missense_Mutation_p.R396K|SYTL3_uc003qrq.2_Missense_Mutation_p.R396K|SYTL3_uc003qrr.2_Missense_Mutation_p.R464K|SYTL3_uc003qrs.2_Missense_Mutation_p.R396K|SYTL3_uc011efq.1_Missense_Mutation_p.R190K NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 464 intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCACGGCCCAGAAAACTCCAA 0.567 NaN 0 0 0 0.006122 0 17 41 SYTL3 94120 broad.mit.edu 37 6 159184504 159184504 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:159184504G>T uc003qrp.2 + 16 1930 c.1686G>T c.(1684-1686)ATG>ATT p.M562I SYTL3_uc011efp.1_Missense_Mutation_p.M562I|SYTL3_uc003qro.2_Missense_Mutation_p.M494I|SYTL3_uc003qrq.2_Missense_Mutation_p.M494I|SYTL3_uc003qrr.2_Missense_Mutation_p.M562I|SYTL3_uc003qrs.2_Missense_Mutation_p.M494I|SYTL3_uc011efq.1_Missense_Mutation_p.M288I NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 562 C2 2. intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCTTTGGAATGAACGACCGCT 0.488 NaN 1 0 1.5842e-08 0.001855 1.93326e-08 13 85 RPS6KA2 6196 broad.mit.edu 37 6 166844058 166844058 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr6:166844058C>T uc003qvb.1 - 16 1683 c.1464G>A c.(1462-1464)CTG>CTA p.L488L RPS6KA2_uc011ego.1_Silent_p.L399L|RPS6KA2_uc010kkl.1_Silent_p.L399L|RPS6KA2_uc003qvc.1_Silent_p.L496L|RPS6KA2_uc003qvd.1_Silent_p.L513L NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 488 Protein kinase 2. axon guidance|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|synaptic transmission|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 ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CACCACGCATCAGCTCCATTA 0.577 NaN 0 0 0 0.00245 0 14 45 TTYH3 80727 broad.mit.edu 37 7 2701309 2701309 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:2701309C>G uc003smp.2 + 14 1695 c.1508C>G c.(1507-1509)TCC>TGC p.S503C TTYH3_uc010ksn.2_Missense_Mutation_p.S223C|TTYH3_uc003smq.2_Missense_Mutation_p.S332C NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 503 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CAGTACACCTCCAGCATGAGA 0.682 NaN 0 0 0 0.004482 0 8 15 CARD11 84433 broad.mit.edu 37 7 2957020 2957020 + Splice_Site SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:2957020C>G uc003smv.2 - 20 3012 c.2608_splice c.e20-1 p.N870_splice NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCAGGGTGTTCTGAAATGAAT 0.562 NaN Mis DLBCL 0 0 0 0.007413 0 19 45 MIOS 54468 broad.mit.edu 37 7 7622975 7622975 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:7622975C>G uc003srf.2 + 6 1928 c.1620C>G c.(1618-1620)ATC>ATG p.I540M MIOS_uc003srg.2_Missense_Mutation_p.I75M|MIOS_uc010ktq.2_5'Flank NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 540 0 CAATCCAAATCCTGAATGAAG 0.388 NaN 0 0 0 0.001855 0 12 52 THSD7A 221981 broad.mit.edu 37 7 11468661 11468661 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:11468661C>G uc003ssf.3 - 14 3408 c.3156G>C c.(3154-3156)GGG>GGC p.G1052G NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1052 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCACACCACTCCCACAGGACT 0.517 NaN HNSCC(18;0.044) 0 0 0 0.00361 0 95 283 HOXA10 3206 broad.mit.edu 37 7 27211670 27211670 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:27211670G>T uc011jzm.1 - 2 1111 c.1081C>A c.(1081-1083)CTT>ATT p.L361I MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.L45I NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 361 Homeobox. spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTCGAGTAAGGTACATATTG 0.522 NaN 1 0 1.52378e-38 0.00361 1.95217e-38 75 696 KBTBD2 25948 broad.mit.edu 37 7 32909880 32909880 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:32909880C>G uc003tdb.2 - 4 1608 c.949G>C c.(949-951)GAT>CAT p.D317H AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 317 Kelch 1. 0 GBM - Glioblastoma multiforme(11;0.0499) ATGTAGATATCATTATCAGGA 0.413 NaN 0 0 0 0.00632 0 28 83 C7orf25 79020 broad.mit.edu 37 7 42949965 42949965 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:42949965C>G uc003thw.2 - 2 999 c.535G>C c.(535-537)GAG>CAG p.E179Q C7orf25_uc010kxq.2_Missense_Mutation_p.E179Q|C7orf25_uc003thx.3_Missense_Mutation_p.E237Q|C7orf25_uc010kxr.2_Missense_Mutation_p.E237Q NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 179 skin(1) 1 TTCAGCTTCTCTGCCATGGGG 0.493 NaN 0 0 0 0.001368 0 13 88 GCK 2645 broad.mit.edu 37 7 44192943 44192943 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44192943C>T uc003tkl.2 - 2 635 c.165G>A c.(163-165)GTG>GTA p.V55V GCK_uc003tkj.1_Silent_p.V54V|GCK_uc003tkk.1_Silent_p.V56V NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 55 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 GCAGCATCTTCACACTGGCCT 0.602 NaN 0 0 0 0.00361 0 65 131 GCK 2645 broad.mit.edu 37 7 44193018 44193018 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44193018C>A uc003tkl.2 - 2 560 c.90G>T c.(88-90)CTG>CTT p.L30L GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 30 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 TCACCTTCTTCAGGTCCTCCT 0.632 NaN 1 0 9.47799e-51 0.00361 1.21751e-50 83 225 YKT6 10652 broad.mit.edu 37 7 44250704 44250704 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:44250704C>G uc003tkm.2 + 6 699 c.542C>G c.(541-543)TCT>TGT p.S181C YKT6_uc011kbv.1_Intron NM_006555 NP_006546 O15498 YKT6_HUMAN YKT6 v-SNARE protein 181 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity 0 GGAACACAGTCTAAAGCCTTC 0.502 NaN 0 0 0 0.000978 0 12 41 ABCA13 154664 broad.mit.edu 37 7 48319282 48319282 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:48319282C>T uc003toq.2 + 18 8516 c.8491C>T c.(8491-8493)CTG>TTG p.L2831L ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2831 L -> R (in Ref. 1; AAP13576). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAAAGGACTTCTGTTTAACAA 0.348 NaN 0 0 0 0.00361 0 48 116 ABCA13 154664 broad.mit.edu 37 7 48559842 48559842 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:48559842T>G uc003toq.2 + 53 14028 c.14003T>G c.(14002-14004)CTT>CGT p.L4668R ABCA13_uc010kys.1_Missense_Mutation_p.L1743R|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L398R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4668 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GGCACAGTACTTCTCCTCTTG 0.527 NaN 0 0 0 0.000602 0 5 43 POM121L12 285877 broad.mit.edu 37 7 53104099 53104099 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:53104099C>T uc003tpz.2 + 1 751 c.735C>T c.(733-735)CTC>CTT p.L245L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 245 0 CCTGGAGCCTCAGTTTTTGTG 0.647 NaN 0 0 0 0.004007 0 17 66 SEPT14 346288 broad.mit.edu 37 7 55873034 55873034 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:55873034G>A uc003tqz.2 - 9 1153 c.1036C>T c.(1036-1038)CAG>TAG p.Q346* NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 346 Potential. cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCTTCCCTCTGACATTGATCA 0.303 NaN 0 0 0 0.000602 0 5 52 AUTS2 26053 broad.mit.edu 37 7 70228261 70228261 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:70228261C>G uc003tvw.3 + 7 1891 c.1148C>G c.(1147-1149)TCT>TGT p.S383C AUTS2_uc003tvx.3_Missense_Mutation_p.S383C|AUTS2_uc011keg.1_5'Flank NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 383 Ser-rich. ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCCCACCCCTCTGCTCAGAGC 0.607 NaN 0 0 0 0.001368 0 10 106 TYW1B 441250 broad.mit.edu 37 7 72081725 72081725 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:72081725G>C uc011kej.1 - 16 1876 c.1717C>G c.(1717-1719)CTG>GTG p.L573V TYW1B_uc011keh.1_Missense_Mutation_p.L411V|TYW1B_uc011kei.1_Missense_Mutation_p.L199V NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 573 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 TCGGGGATCAGATCCACCAGC 0.473 NaN 0 0 0 0.00278 0 24 86 EIF4H 7458 broad.mit.edu 37 7 73588773 73588773 + Splice_Site SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:73588773G>A uc003uad.1 + 1 67 c.59_splice c.e1+1 p.G20_splice RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Splice_Site_p.G20_splice|EIF4H_uc010lbm.2_Splice_Site_p.G20_splice|EIF4H_uc003uae.1_Splice_Site_p.G20_splice|EIF4H_uc003uaf.1_Splice_Site NM_022170 NP_071496 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 GCGGCAGAGGGTGAGGCGGGC 0.667 NaN 0 0 0 0.000978 0 9 55 FGL2 10875 broad.mit.edu 37 7 76828608 76828608 + Missense_Mutation SNP T T G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:76828608T>G uc003ugb.2 - 1 543 c.503A>C c.(502-504)AAC>ACC p.N168T CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 168 signal transduction fibrinogen complex receptor binding skin(2) 2 ATTTTCTATGTTGTTCATATT 0.388 NaN 0 0 0 0.005443 0 28 88 PION 54103 broad.mit.edu 37 7 76984619 76984619 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:76984619G>A uc003ugf.2 - 16 1328 c.1249C>T c.(1249-1251)CTG>TTG p.L417L PION_uc003ugg.1_Silent_p.L202L NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 417 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 GTGTTCTGCAGAAGCTGTAAT 0.502 NaN 0 0 0 0.00623 0 42 122 PTPN12 5782 broad.mit.edu 37 7 77256781 77256781 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:77256781C>T uc003ugh.2 + 13 1876 c.1785C>T c.(1783-1785)CTC>CTT p.L595L PTPN12_uc011kgp.1_Silent_p.L476L|PTPN12_uc011kgq.1_Silent_p.L465L|PTPN12_uc010lds.2_Silent_p.L327L NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 595 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 GAACACCCCTCAGTTTTACTA 0.403 NaN 0 0 0 0.002852 0 44 134 CACNA2D1 781 broad.mit.edu 37 7 81667445 81667445 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:81667445C>T uc003uhr.1 - 11 1242 c.986G>A c.(985-987)GGA>GAA p.G329E NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 329 Extracellular (Potential).|VWFA. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) atctgtaattcctttggctGT 0.294 NaN 0 0 0 0.002096 0 33 87 ZNF804B 219578 broad.mit.edu 37 7 88966042 88966042 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:88966042C>G uc011khi.1 + 4 4284 c.3746C>G c.(3745-3747)TCG>TGG p.S1249W NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1249 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTTCATTTTCGACTCTGACT 0.458 NaN HNSCC(36;0.09) 0 0 0 0.001855 0 14 169 STEAP1 26872 broad.mit.edu 37 7 89789150 89789150 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:89789150G>A uc003ujx.2 + 2 248 c.48G>A c.(46-48)ATG>ATA p.M16I STEAP1_uc010lem.2_Missense_Mutation_p.M16I NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 16 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) TTTGGAAAATGAAGCCTAGGA 0.254 NaN 0 0 0 0.008291 0 10 105 CDK14 5218 broad.mit.edu 37 7 90356077 90356077 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:90356077C>G uc003uky.2 + 3 542 c.320C>G c.(319-321)TCC>TGC p.S107C CDK14_uc003ukt.1_Missense_Mutation_p.S61C|CDK14_uc003ukv.1_Missense_Mutation_p.S61C|CDK14_uc003uku.1_Missense_Mutation_p.S61C|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.S89C|CDK14_uc010les.1_Missense_Mutation_p.S61C|CDK14_uc011khl.1_Missense_Mutation_p.P10A NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 107 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 AAGACCTCCTCCACTGGCAAA 0.458 NaN 0 0 0 0.00308 0 8 83 CYP51A1 1595 broad.mit.edu 37 7 91761093 91761093 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:91761093C>T uc003ulm.3 - 2 448 c.286G>A c.(286-288)GAG>AAG p.E96K CYP51A1_uc011khn.1_5'UTR|CYP51A1_uc003uln.3_Missense_Mutation_p.E33K|uc003ulo.1_5'Flank NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 90 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTTACCTTCTCATATGCATTT 0.318 NaN 0 0 0 0.008291 0 10 29 CASD1 64921 broad.mit.edu 37 7 94166908 94166908 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:94166908C>G uc003uni.3 + 9 1195 c.968C>G c.(967-969)TCT>TGT p.S323C CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.S323C NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 323 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTCACTTTATCTATTATCGGA 0.358 NaN 0 0 0 0.003954 0 27 92 TRRAP 8295 broad.mit.edu 37 7 98548583 98548583 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:98548583G>C uc003upp.2 + 38 5607 c.5398G>C c.(5398-5400)GAA>CAA p.E1800Q TRRAP_uc011kis.1_Missense_Mutation_p.E1782Q|TRRAP_uc003upr.2_Missense_Mutation_p.E1499Q NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1800 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) TCCCAATCCAGAAGGAGATAA 0.448 NaN 0 0 0 0.00361 0 69 238 SMURF1 57154 broad.mit.edu 37 7 98649052 98649052 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:98649052G>C uc003upu.1 - 8 1054 c.734C>G c.(733-735)ACA>AGA p.T245R SMURF1_uc003upv.1_Missense_Mutation_p.T245R|SMURF1_uc003upt.2_Missense_Mutation_p.T245R NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 245 WW 1. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCCCTGGACTGTTGTTCTTTG 0.473 NaN 0 0 0 0.00361 0 48 96 C7orf51 222950 broad.mit.edu 37 7 100087045 100087045 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100087045C>G uc003uvd.1 + 4 1860 c.1701C>G c.(1699-1701)CTC>CTG p.L567L C7orf51_uc003uve.1_Silent_p.L349L NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 567 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATGAGAGCCTCAAGGCTGGGG 0.647 NaN 0 0 0 0.006122 0 18 42 GIGYF1 64599 broad.mit.edu 37 7 100283618 100283618 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100283618C>G uc003uwg.1 - 9 2042 c.1033G>C c.(1033-1035)GAG>CAG p.E345Q NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 345 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCTTCCTCCTCTAGCCCTTCG 0.687 NaN 0 0 0 0.001855 0 12 32 GIGYF1 64599 broad.mit.edu 37 7 100283898 100283898 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100283898C>G uc003uwg.1 - 8 1862 c.853G>C c.(853-855)GAG>CAG p.E285Q NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 285 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTGTCCTCCTCAAAGCCTTCA 0.607 NaN 0 0 0 0.001786 0 27 101 GIGYF1 64599 broad.mit.edu 37 7 100284421 100284421 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:100284421C>G uc003uwg.1 - 7 1554 c.545G>C c.(544-546)GGA>GCA p.G182A NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 182 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCCAGCCCCTCCCTCCTCAAA 0.557 NaN 0 0 0 0.007413 0 17 51 PRKAR2B 5577 broad.mit.edu 37 7 106797459 106797459 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:106797459G>C uc003vdx.2 + 9 1124 c.949G>C c.(949-951)GAA>CAA p.E317Q NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 317 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 TTTCATTGTAGAATCTGGAGA 0.343 NaN 0 0 0 0.00361 0 44 136 GPR22 2845 broad.mit.edu 37 7 107115258 107115258 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:107115258G>A uc003vef.2 + 3 2099 c.753G>A c.(751-753)AAG>AAA p.K251K COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 251 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 CAGGGCAGAAGAAGAAAGCAA 0.363 NaN 0 0 0 0.004482 0 8 23 SLC26A3 1811 broad.mit.edu 37 7 107430026 107430026 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:107430026G>C uc003ver.2 - 6 889 c.678C>G c.(676-678)CTC>CTG p.L226L SLC26A3_uc003ves.2_Silent_p.L191L NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 226 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 AAATGAATTTGAGTTGGGAAA 0.388 NaN 0 0 0 0.000248 0 3 34 FOXP2 93986 broad.mit.edu 37 7 114282626 114282626 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:114282626C>T uc003vhb.2 + 7 1311 c.937C>T c.(937-939)CAT>TAT p.H313Y FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.H338Y|FOXP2_uc003vha.2_Missense_Mutation_p.H221Y|FOXP2_uc011kmu.1_Missense_Mutation_p.H330Y|FOXP2_uc011kmv.1_Missense_Mutation_p.H312Y|FOXP2_uc010ljz.1_Missense_Mutation_p.H221Y|FOXP2_uc003vgx.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhd.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhc.2_Missense_Mutation_p.H338Y NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 313 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 ACCAATAACTCATCATTCCAT 0.393 NaN 0 0 0 0.002299 0 20 61 PTPRZ1 5803 broad.mit.edu 37 7 121652699 121652699 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:121652699C>T uc003vjy.2 + 12 3994 c.3599C>T c.(3598-3600)CCA>CTA p.P1200L PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1200 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACTGTTCTTCCAGCTGTGCCC 0.378 NaN 0 0 0 0.00361 0 50 161 FEZF1 389549 broad.mit.edu 37 7 121943827 121943827 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:121943827G>C uc003vkd.2 - 1 739 c.665C>G c.(664-666)TCC>TGC p.S222C FEZF1_uc003vkc.2_Missense_Mutation_p.S172C|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 222 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CTGAGCCTGGGACAGGTCTTT 0.512 NaN 0 0 0 0.005443 0 27 87 GPR37 2861 broad.mit.edu 37 7 124386968 124386968 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:124386968G>T uc003vli.2 - 2 2104 c.1453C>A c.(1453-1455)CAA>AAA p.Q485K NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 485 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTCTCTAGTTGAATCTGCCGT 0.433 NaN 1 0 2.48779e-11 0.005443 3.09898e-11 26 102 METTL2B 55798 broad.mit.edu 37 7 128119545 128119545 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:128119545C>T uc003vnf.2 + 3 573 c.536C>T c.(535-537)TCA>TTA p.S179L METTL2B_uc003vng.2_Missense_Mutation_p.S114L|METTL2B_uc011kop.1_Missense_Mutation_p.S43L NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 179 methyltransferase activity skin(1) 1 CCTGGATCCTCAGCCACCTAC 0.428 NaN 0 0 0 0.00278 0 22 81 ATP6V0A4 50617 broad.mit.edu 37 7 138447178 138447178 + Missense_Mutation SNP G G A rs144802156 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:138447178G>A uc003vuf.2 - 6 657 c.419C>T c.(418-420)ACG>ATG p.T140M ATP6V0A4_uc003vug.2_Missense_Mutation_p.T140M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T140M NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 140 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 ATTGGTTTCCGTCTGAAAGTC 0.393 NaN 0 0 0 0.003163 0 15 43 TRPV6 55503 broad.mit.edu 37 7 142571845 142571845 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:142571845G>A uc003wbx.1 - 12 1719 c.1503C>T c.(1501-1503)ATC>ATT p.I501I TRPV6_uc003wbw.1_Silent_p.I287I|TRPV6_uc010lou.1_Silent_p.I372I NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 501 Helical; (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CAAAGCCCAGGATGACCACAG 0.537 NaN 0 0 0 0.004482 0 6 24 C7orf29 113763 broad.mit.edu 37 7 150028006 150028006 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150028006G>A uc003wgy.2 + 1 1069 c.513G>A c.(511-513)GAG>GAA p.E171E LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN hypothetical protein LOC113763 171 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) GCTTGCTGGAGAGCATGGGGC 0.632 NaN 0 0 0 0.000602 0 5 27 ABCB8 11194 broad.mit.edu 37 7 150732745 150732745 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150732745G>A uc003wil.3 + 7 987 c.894G>A c.(892-894)CTG>CTA p.L298L ABCB8_uc003wii.2_Silent_p.L318L|ABCB8_uc003wij.3_Silent_p.L281L|ABCB8_uc010lpw.1_Silent_p.L100L|ABCB8_uc010lpx.2_Silent_p.L281L|ABCB8_uc011kvd.1_Silent_p.L193L|ABCB8_uc003wim.3_Silent_p.L76L|ABCB8_uc003wik.3_Silent_p.L281L NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 298 ABC transmembrane type-1.|Helical; (Potential). ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCTGCTGATGGTGGCCA 0.652 NaN 0 0 0 0.002836 0 35 76 GBX1 2636 broad.mit.edu 37 7 150864185 150864185 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:150864185C>T uc011kvg.1 - 1 683 c.451G>A c.(451-453)GAT>AAT p.D151N NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 151 Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCTCATCAGCTTCCAGC 0.542 NaN 0 0 0 0.00632 0 26 75 PTPRN2 5799 broad.mit.edu 37 7 157387990 157387990 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:157387990C>A uc003wno.2 - 17 2557 c.2436G>T c.(2434-2436)AGG>AGT p.R812S PTPRN2_uc003wnp.2_Missense_Mutation_p.R795S|PTPRN2_uc003wnq.2_Missense_Mutation_p.R783S|PTPRN2_uc003wnr.2_Missense_Mutation_p.R774S|PTPRN2_uc011kwa.1_Missense_Mutation_p.R835S NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 812 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGCGGGGTTCCTCGGGTCGT 0.532 NaN 1 0 4.7796e-09 0.004656 5.85258e-09 24 72 NCAPG2 54892 broad.mit.edu 37 7 158437065 158437065 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr7:158437065G>C uc003wnv.1 - 27 3441 c.3296C>G c.(3295-3297)TCA>TGA p.S1099* NCAPG2_uc010lqu.1_Nonsense_Mutation_p.S844*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.S553*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.S542* NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 1099 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CCTCACTTTTGAGCTTTTATG 0.358 NaN 0 0 0 0.002299 0 21 145 FGL1 2267 broad.mit.edu 37 8 17739572 17739572 + Silent SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:17739572G>C uc003wxx.2 - 4 504 c.180C>G c.(178-180)GTC>GTG p.V60V FGL1_uc003wxy.2_Silent_p.V60V|FGL1_uc003wxz.2_Silent_p.V60V|FGL1_uc003wya.2_Silent_p.V60V|FGL1_uc003wyb.2_Silent_p.V60V|FGL1_uc003wyc.2_Silent_p.V60V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V110V|FGL1_uc003wyf.2_Silent_p.V30V NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 60 Potential. signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CAAGGAACTGGACTTCATTCT 0.478 NaN 0 0 0 0.002836 0 36 83 LGI3 203190 broad.mit.edu 37 8 22011497 22011497 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:22011497C>G uc003xav.2 - 5 767 c.478G>C c.(478-480)GAC>CAC p.D160H LGI3_uc010ltu.2_Missense_Mutation_p.D136H NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 160 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TTCAGGATGTCCAGGGGCCGG 0.572 NaN 0 0 0 0.003163 0 12 81 C8orf58 541565 broad.mit.edu 37 8 22459311 22459311 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:22459311G>C uc003xce.2 + 3 715 c.603G>C c.(601-603)CAG>CAC p.Q201H C8orf58_uc011kzl.1_Missense_Mutation_p.Q201H|C8orf58_uc003xcf.2_Missense_Mutation_p.Q201H|KIAA1967_uc003xch.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 201 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGCTGGAGCAGATGGCAAGGC 0.662 NaN 0 0 0 0.002222 0 41 98 CDCA2 157313 broad.mit.edu 37 8 25343351 25343351 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:25343351C>T uc003xep.1 + 11 1921 c.1442C>T c.(1441-1443)TCA>TTA p.S481L PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S481L|CDCA2_uc003xeq.1_Missense_Mutation_p.S466L|CDCA2_uc003xer.1_Missense_Mutation_p.S144L NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 481 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GAGACCCTTTCAGGTAGTAAC 0.279 NaN 0 0 0 0.008291 0 11 30 RAB11FIP1 80223 broad.mit.edu 37 8 37728859 37728859 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:37728859G>T uc003xkm.1 - 4 3505 c.3461C>A c.(3460-3462)TCA>TAA p.S1154* RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1154 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTCCGAGGGTGAGACCCAGGC 0.542 NaN OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.62699e-14 0.003163 3.28945e-14 15 199 IKBKB 3551 broad.mit.edu 37 8 42179979 42179979 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:42179979G>A uc003xow.1 + 19 2130 c.1953G>A c.(1951-1953)CAG>CAA p.Q651Q IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.Q428Q|IKBKB_uc003xox.1_Silent_p.Q372Q|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.Q649Q|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.Q592Q NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 651 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGAAGCGGCAGAAGGAGCTCT 0.567 NaN 0 0 0 0.006122 0 18 121 POTEA 340441 broad.mit.edu 37 8 43197332 43197332 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:43197332C>G uc003xpz.1 + 11 1264 c.1221C>G c.(1219-1221)GTC>GTG p.V407V POTEA_uc003xqa.1_Silent_p.V361V NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 407 ovary(1) 1 TCTTACAGGTCAAAAGCCAAA 0.318 NaN 0 0 0 0.001168 0 4 44 PRKDC 5591 broad.mit.edu 37 8 48711931 48711931 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:48711931C>T uc003xqi.2 - 73 10194 c.10137G>A c.(10135-10137)CAG>CAA p.Q3379Q PRKDC_uc003xqj.2_Silent_p.Q3379Q|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3379 FAT. 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) GGAATGCTCTCTGGTACAGAC 0.552 NaN NHEJ 0 0 0 0.00361 0 59 93 PRKDC 5591 broad.mit.edu 37 8 48801695 48801695 + Missense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:48801695C>A uc003xqi.2 - 34 4217 c.4160G>T c.(4159-4161)GGA>GTA p.G1387V PRKDC_uc003xqj.2_Missense_Mutation_p.G1387V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1387 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) CTGGACGTCTCCGATGTTGAA 0.463 NaN NHEJ 1 0 2.4624e-09 0.008871 3.02032e-09 18 54 MYBL1 4603 broad.mit.edu 37 8 67507965 67507965 + Nonsense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:67507965C>T uc003xwj.2 - 6 947 c.540G>A c.(538-540)TGG>TGA p.W180* MYBL1_uc003xwl.2_Nonsense_Mutation_p.W180*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.W180* NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 180 HTH myb-type 3.|H-T-H motif (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TAGTAGAATTCCAATGATTTT 0.333 NaN 0 0 0 0.000248 0 4 6 TRPA1 8989 broad.mit.edu 37 8 72975076 72975076 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:72975076G>C uc003xza.2 - 6 940 c.765C>G c.(763-765)ATC>ATG p.I255M NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 255 ANK 6.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GGCACATTTTGATCATTTCCA 0.388 NaN 0 0 0 0.001855 0 13 71 LRRCC1 85444 broad.mit.edu 37 8 86022358 86022358 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:86022358G>A uc003ycw.2 + 3 473 c.319G>A c.(319-321)GAA>AAA p.E107K LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.E14K|LRRCC1_uc003ycy.2_Missense_Mutation_p.E87K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 107 LRR 3. cell division|mitosis centriole|nucleus 0 aGGACTTGAAGAACTAATTAA 0.229 NaN 0 0 0 0.008291 0 9 52 RIPK2 8767 broad.mit.edu 37 8 90798902 90798902 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:90798902G>A uc003yee.2 + 9 1425 c.1111G>A c.(1111-1113)GAT>AAT p.D371N RIPK2_uc003yef.2_Missense_Mutation_p.D234N NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 371 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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 ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCAAGACAATGATTTTTTATC 0.338 NaN 0 0 0 0.001855 0 13 124 PGCP 10404 broad.mit.edu 37 8 98155285 98155285 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:98155285C>T uc003yhw.2 + 8 1459 c.1293C>T c.(1291-1293)TTC>TTT p.F431F NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 431 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) AGTATTTCTTCTTCCATCACT 0.433 NaN 0 0 0 0.004007 0 16 37 MTDH 92140 broad.mit.edu 37 8 98712020 98712020 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:98712020G>C uc003yhz.2 + 7 1415 c.1087G>C c.(1087-1089)GAT>CAT p.D363H MTDH_uc010mbf.2_Intron NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 363 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TACCACTTCTGATTATCAGTG 0.333 NaN 0 0 0 0.008361 0 27 183 NIPAL2 79815 broad.mit.edu 37 8 99234791 99234791 + Silent SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:99234791C>A uc003yil.1 - 5 730 c.474G>T c.(472-474)GTG>GTT p.V158V NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V158V NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 158 Helical; (Potential). integral to membrane 0 GAGCAAAGTTCACCAGTAAAT 0.363 NaN 1 0 3.52763e-06 0.00499 4.258e-06 17 130 FBXO43 286151 broad.mit.edu 37 8 101153700 101153700 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:101153700G>C uc003yjd.2 - 2 1495 c.782C>G c.(781-783)TCT>TGT p.S261C FBXO43_uc003yje.2_Missense_Mutation_p.S227C|FBXO43_uc010mbp.1_Missense_Mutation_p.S261C NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 261 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ATGTGTGATAGAGTCTTTAAA 0.378 NaN 0 0 0 0.002299 0 23 46 ASAP1 50807 broad.mit.edu 37 8 131200403 131200403 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:131200403G>A uc003yta.1 - 5 460 c.432C>T c.(430-432)ATC>ATT p.I144I ASAP1_uc011liw.1_Silent_p.I137I NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 144 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CCAAGGTGAAGATCACATTGT 0.323 NaN 0 0 0 0.00361 0 44 265 PTK2 5747 broad.mit.edu 37 8 141754781 141754781 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:141754781G>A uc003yvu.2 - 19 1834 c.1604C>T c.(1603-1605)GCA>GTA p.A535V PTK2_uc003yvo.2_Missense_Mutation_p.A163V|PTK2_uc011ljq.1_Missense_Mutation_p.A230V|PTK2_uc003yvp.2_Missense_Mutation_p.A203V|PTK2_uc003yvq.2_Missense_Mutation_p.A61V|PTK2_uc003yvr.2_Missense_Mutation_p.A475V|PTK2_uc003yvs.2_Missense_Mutation_p.A535V|PTK2_uc003yvt.2_Missense_Mutation_p.A557V|PTK2_uc003yvv.2_Missense_Mutation_p.A435V|PTK2_uc011ljr.1_Missense_Mutation_p.A535V NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 535 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CTCTAGATATGCAAGAGCTGT 0.383 NaN 0 0 0 0.003271 0 30 110 CYP11B2 1585 broad.mit.edu 37 8 143999073 143999073 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:143999073C>T uc003yxk.1 - 1 187 c.184G>A c.(184-186)GAG>AAG p.E62K NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 62 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGCAGGTGCTCATAACCCTGC 0.637 NaN Familial_Hyperaldosteronism_type_I 0 0 0 0.001168 0 6 55 TOP1MT 116447 broad.mit.edu 37 8 144411579 144411579 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:144411579C>T uc003yxz.2 - 3 320 c.301G>A c.(301-303)GAT>AAT p.D101N TOP1MT_uc011lkd.1_Missense_Mutation_p.D3N|TOP1MT_uc011lke.1_Missense_Mutation_p.D3N|TOP1MT_uc010mfb.2_Missense_Mutation_p.D3N|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 101 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TATTCATGATCTAACATCCTC 0.547 NaN 0 0 0 0.003163 0 15 121 RHPN1 114822 broad.mit.edu 37 8 144463988 144463988 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:144463988G>A uc003yyb.2 + 14 1780 c.1647G>A c.(1645-1647)CTG>CTA p.L549L NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 574 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CGGCTGGCCTGAAGGAGGGCG 0.677 NaN 0 0 0 0.00308 0 8 15 ZNF16 7564 broad.mit.edu 37 8 146156262 146156262 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr8:146156262G>A uc003zet.2 - 4 2098 c.1911C>T c.(1909-1911)GCC>GCT p.A637A ZNF16_uc003zeu.2_Silent_p.A637A NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 637 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GCTGACTGAAGGCTTTCCCAC 0.542 NaN 0 0 0 0.005443 0 28 77 MPDZ 8777 broad.mit.edu 37 9 13224526 13224526 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:13224526G>A uc010mia.1 - 3 297 c.240C>T c.(238-240)CTC>CTT p.L80L MPDZ_uc010mhy.2_Silent_p.L80L|MPDZ_uc010mhz.2_Silent_p.L80L|MPDZ_uc011lmn.1_Silent_p.L80L|MPDZ_uc003zlb.3_Silent_p.L80L NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 80 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) CAGCTGGGCTGAGATGAGGAA 0.378 NaN 0 0 0 0.004656 0 27 33 FREM1 158326 broad.mit.edu 37 9 14805073 14805073 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:14805073C>T uc003zlm.2 - 19 3942 c.3352G>A c.(3352-3354)GCC>ACC p.A1118T FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1118 CSPG 7. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AACTGGTCGGCAGTTGGTTCT 0.438 NaN 0 0 0 0.00361 0 50 60 FREM1 158326 broad.mit.edu 37 9 14805089 14805089 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:14805089C>T uc003zlm.2 - 19 3926 c.3336G>A c.(3334-3336)CTG>CTA p.L1112L FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1112 CSPG 7. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GTTCTATCCTCAGATGCCTGG 0.408 NaN 0 0 0 0.00361 0 52 64 RPS6 6194 broad.mit.edu 37 9 19376375 19376375 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:19376375C>G uc003znv.1 - 6 708 c.666G>C c.(664-666)GAG>GAC p.E222D RPS6_uc003znu.1_Missense_Mutation_p.E191D NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 222 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) CCTGGCGCTTCTCCTTAGCCT 0.448 NaN 0 0 0 0.002096 0 32 52 CDKN2A 1029 broad.mit.edu 37 9 21971003 21971003 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:21971003C>T uc003zpk.2 - 2 567 c.355G>A c.(355-357)GAG>AAG p.E119K MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.*174* NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 119 ANK 4. E -> Q (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCAGCTCCTCAGCCAGGTCC 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 0.001855 0 14 21 CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C C T rs121913381 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:21971036C>T uc003zpk.2 - 2 534 c.322G>A c.(322-324)GAT>AAT p.D108N MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163Q NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 0.000978 0 10 17 PLAA 9373 broad.mit.edu 37 9 26905860 26905860 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:26905860C>G uc003zqd.2 - 14 2462 c.2037G>C c.(2035-2037)CAG>CAC p.Q679H NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 679 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GTGATTCCCTCTGGGACATCA 0.443 NaN 0 0 0 0.001523 0 21 37 NOL6 65083 broad.mit.edu 37 9 33467733 33467733 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:33467733C>T uc003zsz.2 - 12 1659 c.1558G>A c.(1558-1560)GCT>ACT p.A520T SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.A520T|NOL6_uc010mjv.2_Missense_Mutation_p.A517T|NOL6_uc011lob.1_Missense_Mutation_p.A468T|NOL6_uc003ztb.1_Missense_Mutation_p.A520T NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 520 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TTCAGCCGAGCCCCCAGGCCC 0.647 NaN 0 0 0 0.000602 0 4 37 DCAF12 25853 broad.mit.edu 37 9 34107359 34107359 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:34107359C>T uc003ztt.2 - 3 880 c.538G>A c.(538-540)GAT>AAT p.D180N NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 180 centrosome|CUL4 RING ubiquitin ligase complex 0 AAACTTACATCTCCTACACAC 0.502 NaN 0 0 0 0.00632 0 29 73 RG9MTD3 158234 broad.mit.edu 37 9 37776350 37776350 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:37776350C>T uc004aai.2 + 8 869 c.792C>T c.(790-792)GTC>GTT p.V264V RG9MTD3_uc011lqo.1_Silent_p.V213V|RG9MTD3_uc011lqp.1_Silent_p.V186V|RG9MTD3_uc011lqq.1_Silent_p.V153V|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Silent_p.V169V NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN RNA (guanine-9-) methyltransferase domain 264 methyltransferase activity 0 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) AATACATGGTCAGAAACCAGA 0.428 NaN 0 0 0 0.008291 0 11 12 MAMDC2 256691 broad.mit.edu 37 9 72840940 72840940 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:72840940G>C uc004ahm.2 + 14 2670 c.2053G>C c.(2053-2055)GAG>CAG p.E685Q MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 685 endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 AAATGAAATTGAGTATTAAGA 0.299 NaN 0 0 0 0.004482 0 7 16 SMC5 23137 broad.mit.edu 37 9 72962046 72962046 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:72962046G>C uc004ahr.2 + 20 2750 c.2633G>C c.(2632-2634)AGA>ACA p.R878T SMC5_uc011lry.1_Missense_Mutation_p.R23T NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 878 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 GAAAGATCAAGAGCTTCCTGC 0.418 NaN 0 0 0 0.004482 0 7 23 C9orf95 54981 broad.mit.edu 37 9 77683978 77683978 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:77683978C>G uc004aju.2 - 7 1028 c.430G>C c.(430-432)GAT>CAT p.D144H C9orf95_uc004ajs.3_Missense_Mutation_p.D148H|C9orf95_uc004ajr.3_Missense_Mutation_p.D144H|C9orf95_uc004ajt.3_Missense_Mutation_p.D120H NM_017881 NP_060351 Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 isoform 1 144 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity 0 ACATGGCCATCAAAGTATCCC 0.413 NaN 0 0 0 0.003163 0 15 70 GKAP1 80318 broad.mit.edu 37 9 86368211 86368211 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:86368211C>T uc004amy.2 - 9 1298 c.802G>A c.(802-804)GAA>AAA p.E268K GKAP1_uc004amz.2_Missense_Mutation_p.E217K NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 isoform a 268 Potential. signal transduction Golgi apparatus 0 TTCTGGATTTCAGCATCTTTC 0.323 NaN 0 0 0 0.007413 0 19 55 STX17 55014 broad.mit.edu 37 9 102722413 102722413 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:102722413C>T uc004bal.3 + 6 694 c.558C>T c.(556-558)GTC>GTT p.V186V STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA NM_017919 NP_060389 P56962 STX17_HUMAN syntaxin 17 186 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity large_intestine(1) 1 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCCAACTGGTCACTGACTTCT 0.333 NaN 0 0 0 0.002445 0 29 71 PTPN3 5774 broad.mit.edu 37 9 112144604 112144604 + Missense_Mutation SNP C C T rs147420952 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:112144604C>T uc004bed.2 - 24 2618 c.2506G>A c.(2506-2508)GAG>AAG p.E836K PTPN3_uc004beb.2_Missense_Mutation_p.E705K|PTPN3_uc004bec.2_Missense_Mutation_p.E660K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E791K|PTPN3_uc011lwh.1_Missense_Mutation_p.E682K|PTPN3_uc011lwd.1_Missense_Mutation_p.E304K|PTPN3_uc011lwe.1_Missense_Mutation_p.E549K|PTPN3_uc011lwf.1_Missense_Mutation_p.E504K NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 836 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 AGGACGGGCTCGCTGTCCACT 0.537 NaN 0 0 0 0.00308 0 8 26 PTPN3 5774 broad.mit.edu 37 9 112144707 112144707 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:112144707C>T uc004bed.2 - 24 2515 c.2403G>A c.(2401-2403)GTG>GTA p.V801V PTPN3_uc004beb.2_Silent_p.V670V|PTPN3_uc004bec.2_Silent_p.V625V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V756V|PTPN3_uc011lwh.1_Silent_p.V647V|PTPN3_uc011lwd.1_Silent_p.V269V|PTPN3_uc011lwe.1_Silent_p.V514V|PTPN3_uc011lwf.1_Silent_p.V469V NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 801 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 GGAGATGTGTCACTGTGTGTT 0.572 NaN 0 0 0 0.00245 0 14 34 SUSD1 64420 broad.mit.edu 37 9 114904620 114904620 + Missense_Mutation SNP G G A rs113511367 byFrequency TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:114904620G>A uc004bfu.2 - 5 727 c.686C>T c.(685-687)TCC>TTC p.S229F SUSD1_uc010mui.2_Missense_Mutation_p.S229F|SUSD1_uc010muj.2_Missense_Mutation_p.S229F NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 229 Sushi 1.|Extracellular (Potential). integral to membrane calcium ion binding 0 TAATTTTGGGGACTCCCATGT 0.418 NaN 0 0 0 0.00361 0 61 111 PRPF4 9128 broad.mit.edu 37 9 116053935 116053935 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:116053935G>C uc004bgx.2 + 14 1614 c.1564G>C c.(1564-1566)GAA>CAA p.E522Q PRPF4_uc004bgy.2_Missense_Mutation_p.E521Q NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 522 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 GTGGATGGCTGAATAGATGAC 0.453 NaN 0 0 0 0.007413 0 20 17 NR6A1 2649 broad.mit.edu 37 9 127289083 127289083 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:127289083C>T uc004bor.1 - 8 1354 c.1176G>A c.(1174-1176)ATG>ATA p.M392I NR6A1_uc004boq.1_Missense_Mutation_p.M387I|NR6A1_uc010mwq.1_Missense_Mutation_p.M388I NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 392 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 TAATTGCTTTCATGCAAGCAT 0.498 NaN 0 0 0 0.005524 0 35 99 NR6A1 2649 broad.mit.edu 37 9 127289100 127289100 + Nonsense_Mutation SNP C C A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:127289100C>A uc004bor.1 - 8 1337 c.1159G>T c.(1159-1161)GAG>TAG p.E387* NR6A1_uc004boq.1_Nonsense_Mutation_p.E382*|NR6A1_uc010mwq.1_Nonsense_Mutation_p.E383* NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 387 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCATACTCCTCGTTGCTGACC 0.498 NaN 1 0 1.07637e-12 0.004878 1.34313e-12 38 93 MAPKAP1 79109 broad.mit.edu 37 9 128347847 128347847 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:128347847C>T uc004bpv.2 - 5 991 c.658G>A c.(658-660)GAG>AAG p.E220K MAPKAP1_uc011lzt.1_Missense_Mutation_p.E23K|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.E23K|MAPKAP1_uc011lzv.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bpw.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpx.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpy.2_Missense_Mutation_p.E220K|MAPKAP1_uc004bpz.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bqa.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxc.1_Missense_Mutation_p.E92K NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 220 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 AGCTTCGGCTCCCGTCCTTCG 0.542 NaN 0 0 0 0.001786 0 29 58 ENG 2022 broad.mit.edu 37 9 130580997 130580997 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:130580997G>A uc004bsj.3 - 11 1839 c.1426C>T c.(1426-1428)CAG>TAG p.Q476* ENG_uc011mam.1_Nonsense_Mutation_p.Q287*|ENG_uc004bsk.3_Nonsense_Mutation_p.Q476*|uc004bsl.1_Intron NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 476 Ser/Thr-rich.|Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 CCAGGTACCTGCACAAAGCTC 0.612 NaN Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.00361 0 52 79 LCN2 3934 broad.mit.edu 37 9 130914210 130914210 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:130914210C>T uc004bto.1 + 4 454 c.381C>T c.(379-381)CTC>CTT p.L127L LCN2_uc011map.1_Silent_p.L127L NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 127 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 CGAGTTACCTCGTCCGAGTGG 0.567 NaN 0 0 0 0.005443 0 27 57 CERCAM 51148 broad.mit.edu 37 9 131190687 131190687 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131190687C>T uc004buz.3 + 6 1271 c.873C>T c.(871-873)ATC>ATT p.I291I CERCAM_uc004buy.1_Silent_p.I213I|CERCAM_uc010mxz.2_Silent_p.I213I|CERCAM_uc010mya.1_Silent_p.I132I NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 291 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 TCCACCTGATCTTAGAAGCAC 0.612 NaN 0 0 0 0.000602 0 5 26 SPTAN1 6709 broad.mit.edu 37 9 131369932 131369932 + Nonsense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131369932G>T uc004bvl.3 + 32 4209 c.4096G>T c.(4096-4098)GAG>TAG p.E1366* SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1366*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1346* NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1366 Spectrin 15. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GTCCTCAGATGAGCTAGCCAA 0.542 NaN 1 0 1.78839e-46 0.00361 2.29321e-46 73 94 NUP188 23511 broad.mit.edu 37 9 131768878 131768878 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:131768878C>G uc004bws.1 + 44 5193 c.5171C>G c.(5170-5172)TCT>TGT p.S1724C NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1724 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 AAGTCCACCTCTCTCTCCAAA 0.637 NaN OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003214 0 46 45 TSC1 7248 broad.mit.edu 37 9 135776115 135776115 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:135776115G>C uc004cca.2 - 20 2846 c.2612C>G c.(2611-2613)TCA>TGA p.S871* TSC1_uc004ccb.3_Nonsense_Mutation_p.S870*|TSC1_uc011mcq.1_Nonsense_Mutation_p.S820*|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 871 Potential. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGTGGTATCTGAGTGCTTGTT 0.527 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.00361 0 54 82 RALGDS 5900 broad.mit.edu 37 9 135979668 135979668 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:135979668C>G uc004cco.2 - 10 1673 c.1653G>C c.(1651-1653)CAG>CAC p.Q551H RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.Q539H|RALGDS_uc004ccr.2_Missense_Mutation_p.Q550H|RALGDS_uc011mcv.1_Missense_Mutation_p.Q522H|RALGDS_uc004ccs.2_Missense_Mutation_p.Q496H|RALGDS_uc011mcw.1_Missense_Mutation_p.Q622H|RALGDS_uc004ccv.1_Missense_Mutation_p.Q320H|RALGDS_uc004ccu.1_Missense_Mutation_p.Q320H NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 551 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCGGCCGTTTCTGGGCTCTCT 0.662 NaN T CIITA PMBL|Hodgkin Lymphona| 0 0 0 0.004007 0 16 34 KCNT1 57582 broad.mit.edu 37 9 138657499 138657499 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:138657499G>A uc011mdq.1 + 13 1304 c.1230G>A c.(1228-1230)ACG>ACA p.T410T KCNT1_uc011mdr.1_Silent_p.T237T|KCNT1_uc010nbf.2_Silent_p.T365T|KCNT1_uc004cgo.1_Silent_p.T159T NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 410 membrane binding|calcium-activated potassium channel activity p.T410M(1) large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGTGCCCCACGGAGATGGATG 0.657 NaN 0 0 0 0.000602 0 5 10 NOTCH1 4851 broad.mit.edu 37 9 139390629 139390629 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:139390629G>A uc004chz.2 - 34 7562 c.7562C>T c.(7561-7563)TCC>TTC p.S2521F NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2521 Poly-Ser.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.W2521*(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGACGAGCTGGACCACTGGTC 0.662 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.000978 0 8 33 NPDC1 56654 broad.mit.edu 37 9 139937506 139937506 + Silent SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr9:139937506C>T uc004ckt.2 - 2 367 c.132G>A c.(130-132)GGG>GGA p.G44G NPDC1_uc004ckr.2_Silent_p.G44G|NPDC1_uc004cks.2_Silent_p.G122G|NPDC1_uc004cku.2_Silent_p.G44G NM_015392 NP_056207 Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and 44 integral to membrane 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGTCCAGGCTCCCGGGACAGG 0.697 NaN 0 0 0 0.001168 0 4 23 TLR7 51284 broad.mit.edu 37 X 12903875 12903875 + Missense_Mutation SNP C C A rs143823510 TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:12903875C>A uc004cvc.2 + 3 387 c.248C>A c.(247-249)GCG>GAG p.A83E NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 83 Extracellular (Potential).|LRR 2. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.A83A(1) ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) ATCTCCCCAGCGTCCTTTCAC 0.483 NaN 1 0 1.46156e-29 0.00361 1.86582e-29 51 38 REPS2 9185 broad.mit.edu 37 X 17040287 17040287 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:17040287G>A uc004cxv.1 + 3 610 c.439G>A c.(439-441)GAG>AAG p.E147K REPS2_uc004cxw.1_Missense_Mutation_p.E147K|REPS2_uc011miw.1_Missense_Mutation_p.E7K NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 147 EH 1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) GAATGATGGTGAGATACGATT 0.388 NaN 0 0 0 0.00361 0 107 57 NHS 4810 broad.mit.edu 37 X 17744900 17744900 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:17744900C>G uc004cxx.2 + 6 2949 c.2611C>G c.(2611-2613)CTT>GTT p.L871V NHS_uc011mix.1_Missense_Mutation_p.L892V|NHS_uc004cxy.2_Missense_Mutation_p.L715V|NHS_uc004cxz.2_Missense_Mutation_p.L694V|NHS_uc004cya.2_Missense_Mutation_p.L594V NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 871 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) GAAGCTGCCTCTTGATTTCGC 0.473 NaN 0 0 0 0.006122 0 19 53 FAM48B2 170067 broad.mit.edu 37 X 24329257 24329257 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:24329257C>T uc011mjw.1 - 1 2176 c.2176G>A c.(2176-2178)GCT>ACT p.A726T NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 726 Gln-rich. 0 AACACAGCAGCCTGGGGCTGG 0.607 NaN 0 0 0 0.000602 0 5 2 ZNF41 7592 broad.mit.edu 37 X 47307191 47307191 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:47307191C>T uc004dhs.3 - 4 2171 c.2104G>A c.(2104-2106)GAG>AAG p.E702K ZNF41_uc004dhu.3_Missense_Mutation_p.E694K|ZNF41_uc004dht.3_Missense_Mutation_p.E574K|ZNF41_uc004dhv.3_Missense_Mutation_p.E670K|ZNF41_uc004dhw.3_Missense_Mutation_p.E662K|ZNF41_uc004dhy.3_Missense_Mutation_p.E660K|ZNF41_uc004dhx.3_Missense_Mutation_p.E660K|ZNF41_uc011mlm.1_Missense_Mutation_p.E574K NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 702 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) TTGGGCTTCTCACCTGTGTGG 0.438 NaN 0 0 0 0.002836 0 33 42 GPR173 54328 broad.mit.edu 37 X 53106214 53106214 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:53106214C>G uc004dru.2 + 2 669 c.411C>G c.(409-411)CTC>CTG p.L137L NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 137 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GCATGACACTCTGGACATGCG 0.587 NaN 0 0 0 0.005443 0 28 14 UBQLN2 29978 broad.mit.edu 37 X 56590553 56590553 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:56590553G>C uc004dus.2 + 1 482 c.247G>C c.(247-249)GAT>CAT p.D83H UBQLN2_uc011moq.1_Missense_Mutation_p.D83H NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 83 Ubiquitin-like. cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 AATCTTAAAAGATCAAGATAC 0.483 NaN 0 0 0 0.008291 0 11 25 MED12 9968 broad.mit.edu 37 X 70339888 70339888 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:70339888G>C uc004dyy.2 + 4 620 c.421G>C c.(421-423)GAG>CAG p.E141Q MED12_uc011mpq.1_Missense_Mutation_p.E141Q|MED12_uc004dyz.2_Missense_Mutation_p.E141Q|MED12_uc004dza.2_5'UTR NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 141 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TAAGAAGGAAGAGGTGTTTGG 0.468 NaN 0 0 0 0.004289 0 38 34 ATRX 546 broad.mit.edu 37 X 76888758 76888758 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:76888758G>C uc004ecp.3 - 19 5303 c.5071C>G c.(5071-5073)CAA>GAA p.Q1691E ATRX_uc004ecq.3_Missense_Mutation_p.Q1653E|ATRX_uc004eco.3_Missense_Mutation_p.Q1476E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1691 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTCCTTCCTTGAGCAAGATTT 0.393 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.00361 0 168 127 TGIF2LX 90316 broad.mit.edu 37 X 89177499 89177499 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:89177499G>A uc004efe.2 + 2 464 c.415G>A c.(415-417)GAG>AAG p.E139K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCAGAGCACCGAGGCGTCTGT 0.582 NaN 0 0 0 0.001786 0 30 33 NOX1 27035 broad.mit.edu 37 X 100118475 100118475 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:100118475G>A uc004egj.2 - 3 457 c.251C>T c.(250-252)TCA>TTA p.S84L uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.S84L|NOX1_uc010nne.2_Intron NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 84 Cytoplasmic (Potential).|Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 GGGACTCACTGAGCAGGTGCC 0.532 NaN 0 0 0 0.00308 0 6 21 TIMM8A 1678 broad.mit.edu 37 X 100603636 100603636 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:100603636G>C uc004ehd.2 - 1 322 c.17C>G c.(16-18)TCT>TGT p.S6C TIMM8A_uc011mri.1_Missense_Mutation_p.S6C NM_004085 NP_004076 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 6 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding 0 CGCGGAGGAAGAGGAGGAGGA 0.607 NaN 0 0 0 0.00333 0 21 29 RGAG1 57529 broad.mit.edu 37 X 109695911 109695911 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:109695911C>G uc004eor.1 + 3 2312 c.2066C>G c.(2065-2067)TCT>TGT p.S689C RGAG1_uc011msr.1_Missense_Mutation_p.S689C NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 689 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCCACAGTCTCTGGAGGGATG 0.512 NaN 0 0 0 0.005443 0 26 21 UTP14A 10813 broad.mit.edu 37 X 129058892 129058892 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:129058892G>C uc004euz.2 + 12 1498 c.1470G>C c.(1468-1470)GAG>GAC p.E490D UTP14A_uc011mup.1_Missense_Mutation_p.E438D|UTP14A_uc011muq.1_Missense_Mutation_p.E436D NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 490 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 TCCAGAGAGAGGAACCTGCCC 0.478 NaN 0 0 0 0.005524 0 35 99 HTATSF1 27336 broad.mit.edu 37 X 135593382 135593382 + Missense_Mutation SNP G G T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:135593382G>T uc004ezw.2 + 10 1900 c.1478G>T c.(1477-1479)GGA>GTA p.G493V HTATSF1_uc004ezx.2_Missense_Mutation_p.G493V NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 493 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCCGTAAGAGGATCTGAAGAG 0.443 NaN 1 0 1.99824e-07 0.00499 2.42619e-07 18 23 GABRE 2564 broad.mit.edu 37 X 151138714 151138714 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:151138714G>A uc004ffi.2 - 2 271 c.217C>T c.(217-219)CGC>TGC p.R73C GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 73 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGATGCGAGAGGCTTCT 0.547 NaN 0 0 0 0.004656 0 24 101 FLNA 2316 broad.mit.edu 37 X 153599343 153599343 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:153599343G>C uc004fkk.2 - 2 520 c.271C>G c.(271-273)CGC>GGC p.R91G FLNA_uc010nuu.1_Missense_Mutation_p.R91G NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 91 CH 1.|Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTGTGCTTGCGGTGCATCTTC 0.607 NaN 0 0 0 0.003163 0 14 9 EIF4G2 1982 broad.mit.edu 37 11 10823639 10823640 + Frame_Shift_Del DEL TG TG - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr11:10823639_10823640delTG uc001mjc.2 - 13 1672_1673 c.1255_1256delCA c.(1255-1257)CAAfs p.Q419fs EIF4G2_uc001mjb.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc009ygf.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc001mjd.2_Frame_Shift_Del_p.Q419fs|EIF4G2_uc001mjf.1_Frame_Shift_Del_p.Q213fs|SNORD97_uc009yge.2_5'Flank NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 419 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACTGCGATTGTGTGGGAGGC 0.431 NaN NaN NaN NaN NaN NaN 15 109 --- --- ARID2 196528 broad.mit.edu 37 12 46240637 46240638 + Splice_Site INS - - GCTT TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 - GCTT - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr12:46240637_46240638insGCTT uc001ros.1 + 12 1499 c.1499_splice c.e12-1 p.A500_splice ARID2_uc001ror.2_Splice_Site_p.A500_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.A127_splice NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTTTCTTTAGCTTCCAGAGC 0.351 NaN NaN NaN NaN NaN NaN 8 70 --- --- TUSC5 286753 broad.mit.edu 37 17 1183661 1183661 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:1183661delC uc002fsi.1 + 1 705 c.366delC c.(364-366)ATCfs p.I122fs NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN LOST1 122 Helical; (Potential). response to biotic stimulus integral to membrane skin(2) 2 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCAACCTCATCCCCCTCATCA 0.617 NaN NaN NaN NaN NaN NaN 56 112 --- --- QRICH2 84074 broad.mit.edu 37 17 74283954 74283955 + Frame_Shift_Del DEL CC CC - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr17:74283954_74283955delCC uc002jrd.1 - 6 3504_3505 c.3324_3325delGG c.(3322-3327)CTGGAAfs p.L1108fs QRICH2_uc010wsz.1_Frame_Shift_Del_p.L1034fs|QRICH2_uc010dgw.1_5'UTR NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1108_1109 Potential. protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 CCTTCCCCTTCCAGGATCCTCT 0.559 NaN NaN NaN NaN NaN NaN 34 96 --- --- SLC14A1 6563 broad.mit.edu 37 18 43310353 43310353 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr18:43310353delC uc010xcn.1 + 4 387 c.68delC c.(67-69)TCGfs p.S23fs SLC14A1_uc010dnk.2_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbf.3_Frame_Shift_Del_p.S23fs|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbk.3_Frame_Shift_Del_p.S23fs NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 23 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 AACCAGGTTTCGCCATGTCAA 0.507 NaN NaN NaN NaN NaN NaN 35 77 --- --- OBSL1 23363 broad.mit.edu 37 2 220435169 220435170 + Frame_Shift_Ins INS - - TGCT TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr2:220435169_220435170insTGCT uc010fwk.2 - 1 842_843 c.785_786insAGCA c.(784-786)CACfs p.H262fs OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Frame_Shift_Ins_p.H262fs|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 262 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) GGAACTTGGCGTGCTTGCCCTC 0.723 NaN NaN NaN NaN NaN NaN 19 89 --- --- FAT1 2195 broad.mit.edu 37 4 187510105 187510115 + Frame_Shift_Del DEL CAGGCATGTCT CAGGCATGTCT - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr4:187510105_187510115delCAGGCATGTCT uc003izf.2 - 27 13586_13596 c.13398_13408delAGACATGCCTG c.(13396-13410)AGAGACATGCCTGCCfs p.R4466fs FAT1_uc010isn.2_Frame_Shift_Del_p.R113fs|FAT1_uc003ize.2_Frame_Shift_Del_p.R357fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4466_4470 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTACCCGCGGCAGGCATGTCTCTAGGAGGGT 0.502 NaN HNSCC(5;0.00058) NaN NaN NaN NaN NaN 16 295 --- --- SLC12A2 6558 broad.mit.edu 37 5 127514329 127514330 + Frame_Shift_Ins INS - - A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chr5:127514329_127514330insA uc003kus.2 + 22 3212_3213 c.3048_3049insA c.(3046-3051)CAGAAAfs p.Q1016fs SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Frame_Shift_Ins_p.Q1000fs NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 1016_1017 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACAGTTTCAGAAAAAACAAGG 0.307 NaN NaN NaN NaN NaN NaN 8 77 --- --- KDM6A 7403 broad.mit.edu 37 X 44942739 44942739 + Frame_Shift_Del DEL C C - TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebb5cdb6-df4a-436d-b4a6-1655d263e3dd 0b75e374-8428-4022-a2ec-06b625c6ab92 g.chrX:44942739delC uc004dge.3 + 23 3694 c.3319delC c.(3319-3321)CCTfs p.P1107fs KDM6A_uc011mkz.1_Frame_Shift_Del_p.P1159fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.P1062fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.P1114fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.P811fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.P746fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1107 JmjC. 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 GACTAAACTTCCTGCTTTTGT 0.403 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 29 10 --- ---