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 NOC2L 26155 broad.mit.edu 37 1 892328 892328 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:892328C>G uc001abz.3 - 4 491 c.432G>C c.(430-432)AAG>AAC p.K144N NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.K144N NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 144 nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GAACAGAATTCTTCTTCCCCT 0.592 NaN 0 0 0 0.01441 0 72 124 PLEKHN1 84069 broad.mit.edu 37 1 906303 906303 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:906303G>C uc001ace.2 + 5 684 c.649G>C c.(649-651)GAG>CAG p.E217Q PLEKHN1_uc001acd.2_Missense_Mutation_p.E177Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E177Q NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 217 PH 1. 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CAGCCGGGCCGAGCTGGACCG 0.726 NaN 0 0 0 0.006122 0 17 11 TTLL10 254173 broad.mit.edu 37 1 1117193 1117193 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:1117193G>T uc001acy.2 + 9 979 c.828G>T c.(826-828)CAG>CAT p.Q276H uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.Q276H|TTLL10_uc001acz.1_Missense_Mutation_p.Q203H NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 276 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCAGGCCACAGAGGTAGACTC 0.637 NaN 1 0 2.52707e-12 0.006214 2.69921e-12 10 13 CELA2B 51032 broad.mit.edu 37 1 15809801 15809801 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:15809801C>T uc001awl.2 + 5 424 c.399C>T c.(397-399)CTC>CTT p.L133L NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 133 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CCGTCTCCCTCACCGACAAGA 0.602 NaN 0 0 0 0.004878 0 32 42 CASP9 842 broad.mit.edu 37 1 15821948 15821948 + Splice_Site SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:15821948C>G uc001awn.2 - 7 964 c.869_splice c.e7-1 p.E290_splice CASP9_uc001awm.1_Splice_Site_p.E290_splice|CASP9_uc001awo.2_Splice_Site_p.E140_splice|CASP9_uc001awp.2_Splice_Site_p.E134_splice|CASP9_uc009voi.2_Splice_Site_p.E134_splice|CASP9_uc010obm.1_Splice_Site_p.E207_splice|CASP9_uc001awq.2_Splice_Site_p.E207_splice NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TCTTTCTGCTCTGCAGGAAGC 0.388 NaN 0 0 0 0.001168 0 5 14 SPEN 23013 broad.mit.edu 37 1 16258553 16258553 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16258553G>A uc001axk.1 + 11 6022 c.5818G>A c.(5818-5820)GAG>AAG p.E1940K SPEN_uc010obp.1_Missense_Mutation_p.E1899K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1940 Potential. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGAGCTTCAGGAGGCTGCAGC 0.587 NaN 0 0 0 0.010504 0 18 73 NBPF1 55672 broad.mit.edu 37 1 16891403 16891403 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16891403C>G uc009vos.1 - 29 4188 c.3300G>C c.(3298-3300)AAG>AAC p.K1100N uc001ayw.2_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 1100 NBPF 7. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ccttccccttcttTTCAATTT 0.259 NaN 0 0 0 0.00245 0 5 600 EIF4G3 8672 broad.mit.edu 37 1 21268770 21268770 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:21268770G>A uc001bec.2 - 9 965 c.709C>T c.(709-711)CTA>TTA p.L237L EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Silent_p.L236L|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.L237L|EIF4G3_uc001bef.2_Silent_p.L236L|EIF4G3_uc001bee.2_Silent_p.L243L|EIF4G3_uc001beg.2_Silent_p.L236L|EIF4G3_uc010odk.1_Silent_p.L237L|EIF4G3_uc001beh.2_Silent_p.L248L NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 237 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTGAGGACTAGCCTAAGGACT 0.438 NaN 0 0 0 0.00632 0 27 108 HSPG2 3339 broad.mit.edu 37 1 22178283 22178283 + Splice_Site SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:22178283C>T uc001bfj.2 - 54 7046 c.7006_splice c.e54+1 p.P2336_splice HSPG2_uc009vqd.2_Splice_Site_p.P2337_splice NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCCCACTCACGGTAGGCTAA 0.637 NaN 0 0 0 0.003755 0 33 39 C1QB 713 broad.mit.edu 37 1 22987517 22987517 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:22987517C>T uc001bgd.2 + 3 532 c.400C>T c.(400-402)CTG>TTG p.L134L NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 134 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAACGTCCCCCTGCGCCGGGA 0.602 NaN 0 0 0 0.014323 0 23 84 YTHDF2 51441 broad.mit.edu 37 1 29069930 29069930 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:29069930C>T uc001brc.2 + 4 1645 c.1148C>T c.(1147-1149)TCA>TTA p.S383L YTHDF2_uc001brd.2_Missense_Mutation_p.S380L|YTHDF2_uc010ofx.1_Missense_Mutation_p.S333L|YTHDF2_uc001bre.2_Missense_Mutation_p.S333L NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 383 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCTACTCCTTCAGAACCCCAC 0.498 NaN 0 0 0 0.012319 0 22 73 BAI2 576 broad.mit.edu 37 1 32205546 32205546 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:32205546C>T uc001btn.2 - 14 2502 c.2148G>A c.(2146-2148)CTG>CTA p.L716L BAI2_uc010ogo.1_Silent_p.L358L|BAI2_uc010ogp.1_Silent_p.L649L|BAI2_uc010ogq.1_Silent_p.L716L|BAI2_uc001bto.2_Silent_p.L716L|BAI2_uc001btq.1_Silent_p.L649L|BAI2_uc010ogr.1_Missense_Mutation_p.D526N NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 716 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CTGTGACAATCAGAGAGCTCT 0.552 NaN 0 0 0 0.010729 0 11 48 SYNC 81493 broad.mit.edu 37 1 33149906 33149906 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33149906C>G uc001bvt.2 - 3 1411 c.1311G>C c.(1309-1311)GAG>GAC p.E437D SYNC_uc010ohl.1_Missense_Mutation_p.E437D|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR NM_030786 NP_110413 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament 1 isoform 1 437 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity ovary(1) 1 GCTGTTCCATCTCTTTGTTCT 0.463 NaN 0 0 0 0.01441 0 59 152 KIAA1522 57648 broad.mit.edu 37 1 33236757 33236757 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33236757C>T uc001bvv.2 + 6 1936 c.1800C>T c.(1798-1800)GTC>GTT p.V600V KIAA1522_uc001bvu.1_Silent_p.V659V|KIAA1522_uc010ohm.1_Silent_p.V611V|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 600 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACAGGTTTGTCATACCTCCTC 0.632 NaN 0 0 0 0.01441 0 68 77 CSMD2 114784 broad.mit.edu 37 1 33992844 33992844 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33992844C>T uc001bxn.1 - 64 9783 c.9754G>A c.(9754-9756)GGG>AGG p.G3252R CSMD2_uc001bxm.1_Missense_Mutation_p.G3396R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3252 Extracellular (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) ATGGGTCTCCCACTGGGCCGG 0.502 NaN 0 0 0 0.004482 0 7 61 CAP1 10487 broad.mit.edu 37 1 40537148 40537148 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:40537148C>G uc001cfa.3 + 13 1600 c.1371C>G c.(1369-1371)TTC>TTG p.F457L CAP1_uc001cey.3_Missense_Mutation_p.F457L|CAP1_uc001cez.3_Missense_Mutation_p.F457L|CAP1_uc009vvz.2_Missense_Mutation_p.F457L|CAP1_uc010oje.1_Missense_Mutation_p.F374L NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 457 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGAGCAGTTCAAGACCCTAT 0.473 NaN 0 0 0 0.007413 0 18 11 C1orf175 374977 broad.mit.edu 37 1 55118945 55118945 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:55118945G>A uc010ooe.1 + 3 670 c.346G>A c.(346-348)GAC>AAC p.D116N C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D116N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D116N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 116 integral to membrane binding 0 CTCAAGGCCTGACTCACAGGG 0.403 NaN 0 0 0 0.01441 0 72 81 PRKAA2 5563 broad.mit.edu 37 1 57171852 57171852 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:57171852G>A uc001cyk.3 + 8 1452 c.1381G>A c.(1381-1383)GAT>AAT p.D461N NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 461 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.D461N(1) breast(4)|ovary(1)|stomach(1) 6 TTACCTGGTTGATAACAGGAG 0.378 NaN 0 0 0 0.009535 0 30 38 PKN2 5586 broad.mit.edu 37 1 89236127 89236127 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:89236127G>T uc001dmn.2 + 4 939 c.597G>T c.(595-597)CAG>CAT p.Q199H PKN2_uc001dmm.1_Missense_Mutation_p.Q199H|PKN2_uc010osp.1_Missense_Mutation_p.Q199H|PKN2_uc010osq.1_Missense_Mutation_p.Q42H|PKN2_uc009wcv.2_Missense_Mutation_p.Q199H NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 199 REM 2. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AGGCAGTCCAGACTAATGAAT 0.408 NaN 1 0 7.01153e-11 0.007291 7.40841e-11 27 38 AGL 178 broad.mit.edu 37 1 100387187 100387187 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:100387187G>C uc001dsi.1 + 34 4979 c.4579G>C c.(4579-4581)GAG>CAG p.E1527Q AGL_uc001dsj.1_Missense_Mutation_p.E1527Q|AGL_uc001dsk.1_Missense_Mutation_p.E1527Q|AGL_uc001dsl.1_Missense_Mutation_p.E1527Q|AGL_uc001dsm.1_Missense_Mutation_p.E1511Q|AGL_uc001dsn.1_Missense_Mutation_p.E1510Q NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1527 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TACTATTCTTGAGACACTTTA 0.378 NaN 0 0 0 0.006214 0 9 42 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:115256529T>C uc009wgu.2 - 3 436 c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 GTP. Q -> K (in neuroblastoma cell). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458 Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 0 0 0 0.013726 0 34 137 PDE4DIP 9659 broad.mit.edu 37 1 144874708 144874708 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:144874708C>G uc001elw.3 - 30 5191 c.4900G>C c.(4900-4902)GAG>CAG p.E1634Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1590Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E641Q NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1634 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTTCTTCTCTTCATAGTGT 0.517 NaN T PDGFRB MPD 0 0 0 0.005524 0 36 314 NOTCH2NL 388677 broad.mit.edu 37 1 145282020 145282020 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:145282020G>A uc001emn.3 + 5 1070 c.700G>A c.(700-702)GAT>AAT p.D234N NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc001emm.3_Missense_Mutation_p.D234N|NOTCH2NL_uc001emo.2_Intron|NOTCH2NL_uc010oyh.1_Intron NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 234 cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 AAAAGAACACGATGAGAATTA 0.378 NaN 0 0 0 0.010729 0 10 71 NBPF10 100132406 broad.mit.edu 37 1 145367724 145367724 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:145367724G>C uc001end.3 + 85 10580 c.10545G>C c.(10543-10545)AAG>AAC p.K3515N NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3440 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAATTGAAaagaaggggaagg 0.259 NaN 0 0 0 0.00499 0 14 125 GOLPH3L 55204 broad.mit.edu 37 1 150620960 150620960 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:150620960G>C uc001evj.2 - 5 912 c.695C>G c.(694-696)TCT>TGT p.S232C GOLPH3L_uc010pci.1_Missense_Mutation_p.S188C NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 232 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TAGCACATCAGAGGAGTGGGC 0.473 NaN 0 0 0 0.003954 0 23 77 GOLPH3L 55204 broad.mit.edu 37 1 150621093 150621093 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:150621093G>T uc001evj.2 - 5 779 c.562C>A c.(562-564)CAT>AAT p.H188N GOLPH3L_uc010pci.1_Missense_Mutation_p.H144N NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 188 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GTCACTGGATGAGTAGTCATG 0.443 NaN 1 0 5.68852e-11 0.004482 6.02676e-11 9 39 LYSMD1 388695 broad.mit.edu 37 1 151137595 151137595 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:151137595C>T uc001ewy.2 - 1 776 c.140G>A c.(139-141)GGA>GAA p.G47E LYSMD1_uc010pcr.1_Intron|SCNM1_uc010pcs.1_5'Flank|SCNM1_uc001ewz.2_5'Flank|SCNM1_uc009wmn.2_5'Flank NM_212551 NP_997716 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain 47 LysM. cell wall macromolecule catabolic process 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGGGTGTCTCCGGGCTCCAA 0.562 NaN 0 0 0 0.004656 0 26 27 FLG 2312 broad.mit.edu 37 1 152281835 152281835 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:152281835G>C uc001ezu.1 - 3 5563 c.5527C>G c.(5527-5529)CAC>GAC p.H1843D NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1843 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTGGCTGTGATGAGACCCT 0.532 NaN Ichthyosis 0 0 0 0.01441 0 200 227 DENND4B 9909 broad.mit.edu 37 1 153902811 153902811 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:153902811C>T uc001fdd.1 - 28 4854 c.4453G>A c.(4453-4455)GAC>AAC p.D1485N uc001fdc.1_Intron NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1485 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTTCGGCAGTCAATGGCCTTG 0.547 NaN 0 0 0 0.013537 0 12 34 KCNN3 3782 broad.mit.edu 37 1 154705586 154705586 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:154705586G>A uc001ffp.2 - 4 1797 c.1483C>T c.(1483-1485)CTG>TTG p.L495L KCNN3_uc001ffo.2_Silent_p.L190L NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 500 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ATGGCACCCAGAAAGTTACTA 0.517 NaN 0 0 0 0.003163 0 15 53 HCN3 57657 broad.mit.edu 37 1 155257083 155257083 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:155257083C>T uc001fjz.1 + 7 1605 c.1597C>T c.(1597-1599)CGC>TGC p.R533C RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R228C NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 533 Cytoplasmic (Potential).|cAMP. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCCATGATGCGCCGGGCCTT 0.617 NaN 0 0 0 0.012319 0 18 63 CD1A 909 broad.mit.edu 37 1 158227240 158227240 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:158227240T>G uc001frt.2 + 5 1446 c.913T>G c.(913-915)TTG>GTG p.L305V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 305 Helical; (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CTTCATCATCTTGGCGGTGAT 0.413 NaN 0 0 0 0.01441 0 72 243 OR6K6 128371 broad.mit.edu 37 1 158725183 158725183 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:158725183C>T uc001fsw.1 + 1 578 c.578C>T c.(577-579)ACC>ATC p.T193I NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TGGATTTCCACCTTGCCTTTC 0.478 NaN 0 0 0 0.00623 0 41 45 IGSF9 57549 broad.mit.edu 37 1 159906269 159906269 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:159906269C>T uc001fur.2 - 6 791 c.593G>A c.(592-594)CGA>CAA p.R198Q IGSF9_uc001fuq.2_Missense_Mutation_p.R198Q NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 198 Ig-like 2.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGAGCTGCCTCGCTCTACCCG 0.657 NaN OREG0013921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00278 0 20 50 CD84 8832 broad.mit.edu 37 1 160523264 160523264 + Missense_Mutation SNP G G C rs145496946 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:160523264G>C uc001fwh.3 - 4 688 c.664C>G c.(664-666)CAC>GAC p.H222D CD84_uc001fwf.3_Missense_Mutation_p.H222D|CD84_uc001fwg.3_Missense_Mutation_p.H222D|CD84_uc009wtn.2_Missense_Mutation_p.H222D|CD84_uc001fwi.3_Missense_Mutation_p.H108D|CD84_uc001fwj.2_Missense_Mutation_p.H222D NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 222 Extracellular (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCGGTGTGGTGAGTACGGAAG 0.488 NaN 0 0 0 0.014323 0 21 46 PAPPA2 60676 broad.mit.edu 37 1 176564329 176564329 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:176564329T>C uc001gkz.2 + 3 2753 c.1589T>C c.(1588-1590)GTG>GCG p.V530A PAPPA2_uc001gky.1_Missense_Mutation_p.V530A|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 530 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TACCAGGTGGTGAACATCTGT 0.527 NaN 0 0 0 0.007413 0 19 28 SOAT1 6646 broad.mit.edu 37 1 179320465 179320465 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:179320465C>G uc001gml.2 + 15 1527 c.1464C>G c.(1462-1464)TTC>TTG p.F488L SOAT1_uc010pni.1_Missense_Mutation_p.F423L|SOAT1_uc001gmm.2_Missense_Mutation_p.F430L|SOAT1_uc010pnj.1_Missense_Mutation_p.F224L|SOAT1_uc010pnk.1_Missense_Mutation_p.F423L NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 488 Helical; (Potential). cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTCAACTTCATTGTCAATG 0.274 NaN 0 0 0 0.00874 0 39 97 HMCN1 83872 broad.mit.edu 37 1 186007984 186007984 + Missense_Mutation SNP C C T rs149920975 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:186007984C>T uc001grq.1 + 38 6104 c.5875C>T c.(5875-5877)CGT>TGT p.R1959C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1959 Ig-like C2-type 17. R -> C (in Ref. 1). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAAAGATAATCGTCTACTCTC 0.348 NaN 0 0 0 0.004007 0 13 96 ASPM 259266 broad.mit.edu 37 1 197070512 197070512 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:197070512T>G uc001gtu.2 - 18 8126 c.7869A>C c.(7867-7869)GAA>GAC p.E2623D ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.E471D NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2623 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CCTGGTGCTGTTCCTGAATCT 0.343 NaN 0 0 0 0.001855 0 13 12 TNNI1 7135 broad.mit.edu 37 1 201380568 201380568 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:201380568G>A uc010ppq.1 - 7 466 c.373C>T c.(373-375)CGG>TGG p.R125W TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.R104W NM_003281 NP_003272 P19237 TNNI1_HUMAN troponin I, skeletal, slow 125 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 AGCAGGGCCCGGAGCATGGCG 0.597 NaN 0 0 0 0.004007 0 17 20 OBSCN 84033 broad.mit.edu 37 1 228509288 228509288 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:228509288C>T uc009xez.1 + 55 14790 c.14746C>T c.(14746-14748)CGG>TGG p.R4916W OBSCN_uc001hsn.2_Missense_Mutation_p.R4916W NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4916 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGATGCCCTGCGGCTGGAGTG 0.617 NaN 0 0 0 0.008871 0 17 21 ACTN2 88 broad.mit.edu 37 1 236908062 236908062 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:236908062C>T uc001hyf.2 + 12 1596 c.1392C>T c.(1390-1392)ATC>ATT p.I464I ACTN2_uc001hyg.2_Silent_p.I256I|ACTN2_uc009xgi.1_Silent_p.I464I|ACTN2_uc010pxu.1_Silent_p.I153I|ACTN2_uc001hyh.2_Silent_p.I152I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 464 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCGCAGCCATCGCGCAGGAGC 0.657 NaN 0 0 0 0.00499 0 16 37 ZP4 57829 broad.mit.edu 37 1 238053789 238053789 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:238053789T>C uc001hym.2 - 1 147 c.147A>G c.(145-147)GCA>GCG p.A49A LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 49 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GAGGAGACGTTGCCTCCTGGT 0.498 NaN 0 0 0 0.000602 0 4 34 CHRM3 1131 broad.mit.edu 37 1 240071762 240071762 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:240071762G>C uc001hyp.2 + 5 1790 c.1011G>C c.(1009-1011)TGG>TGC p.W337C NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 337 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GTGACAGTTGGAACAACAATG 0.572 NaN 0 0 0 0.001984 0 7 13 CHRM3 1131 broad.mit.edu 37 1 240071792 240071792 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:240071792G>A uc001hyp.2 + 5 1820 c.1041G>A c.(1039-1041)GAG>GAA p.E347E NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 347 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCTCCCTGGAGAACTCCGCCT 0.572 NaN 0 0 0 0.001168 0 5 9 NLRP3 114548 broad.mit.edu 37 1 247588705 247588705 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:247588705G>A uc001icr.2 + 5 2098 c.1960G>A c.(1960-1962)GAG>AAG p.E654K NLRP3_uc001ics.2_Missense_Mutation_p.E654K|NLRP3_uc001icu.2_Missense_Mutation_p.E654K|NLRP3_uc001icw.2_Missense_Mutation_p.E654K|NLRP3_uc001icv.2_Missense_Mutation_p.E654K|NLRP3_uc010pyw.1_Missense_Mutation_p.E652K|NLRP3_uc001ict.1_Missense_Mutation_p.E652K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 654 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCCAAGATTGAGATCAATCT 0.498 NaN 0 0 0 0.008291 0 11 36 FBXO18 84893 broad.mit.edu 37 10 5955750 5955750 + Missense_Mutation SNP A A T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:5955750A>T uc001iis.2 + 7 1347 c.1252A>T c.(1252-1254)AAT>TAT p.N418Y FBXO18_uc001iir.2_Missense_Mutation_p.N344Y|FBXO18_uc009xig.2_Missense_Mutation_p.N344Y|FBXO18_uc001iit.2_Missense_Mutation_p.N469Y NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 418 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 TCTTCAGGAGAATTCCTGCAC 0.398 NaN 0 0 0 0.001168 0 5 69 PFKFB3 5209 broad.mit.edu 37 10 6258137 6258137 + Nonsense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:6258137G>T uc001ije.2 + 4 733 c.349G>T c.(349-351)GAA>TAA p.E117* PFKFB3_uc001ijd.2_Nonsense_Mutation_p.E97*|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Nonsense_Mutation_p.E131*|PFKFB3_uc001ijf.2_Nonsense_Mutation_p.E117* NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 117 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 CCTGGCGAAAGAAGGGGGACA 0.587 NaN 1 0 8.20599e-20 0.011902 8.81301e-20 41 51 SUV39H2 79723 broad.mit.edu 37 10 14939477 14939477 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:14939477G>A uc001inh.2 + 2 686 c.630G>A c.(628-630)AAG>AAA p.K210K SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.K210K|SUV39H2_uc001inj.2_Silent_p.K210K NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 270 SET. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 CCCTTGTGAAGATTAAAAGAA 0.388 NaN 0 0 0 0.001855 0 12 37 NMT2 9397 broad.mit.edu 37 10 15174885 15174885 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:15174885C>G uc001inz.1 - 6 734 c.650G>C c.(649-651)AGA>ACA p.R217T NMT2_uc001ioa.1_Missense_Mutation_p.R204T|NMT2_uc009xjo.1_Missense_Mutation_p.R217T|NMT2_uc010qbz.1_Missense_Mutation_p.R29T NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 217 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 TGAAGACACTCTGACCCCACA 0.493 NaN 0 0 0 0.003163 0 16 55 LRRTM3 347731 broad.mit.edu 37 10 68686706 68686706 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:68686706G>A uc001jmz.1 + 2 582 c.32G>A c.(31-33)GGA>GAA p.G11E CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G11E NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 11 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CTACTGAGCGGATCAGCTGTA 0.418 NaN 0 0 0 0.004007 0 13 29 POLR3A 11128 broad.mit.edu 37 10 79740028 79740028 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:79740028C>A uc001jzn.2 - 30 3989 c.3895G>T c.(3895-3897)GAA>TAA p.E1299* NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 1299 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCCAGGACTTCACCCTGCGTC 0.517 NaN 1 0 1.15088e-07 0.004007 1.20305e-07 16 22 POLR3A 11128 broad.mit.edu 37 10 79741314 79741314 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:79741314C>T uc001jzn.2 - 29 3857 c.3763G>A c.(3763-3765)GAG>AAG p.E1255K NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 1255 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAGTTTTCTCCACCTACAGA 0.542 NaN 0 0 0 0.01441 0 127 162 SEC31B 25956 broad.mit.edu 37 10 102249108 102249108 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:102249108C>T uc001krc.1 - 23 3174 c.3072G>A c.(3070-3072)ATG>ATA p.M1024I SEC31B_uc010qpo.1_Missense_Mutation_p.M1023I|SEC31B_uc001krd.1_Missense_Mutation_p.M561I|SEC31B_uc001krf.1_Missense_Mutation_p.M456I|SEC31B_uc001kre.1_Missense_Mutation_p.M456I NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1024 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGGTGAGGCTCATAACTGGAG 0.537 NaN 0 0 0 0.014323 0 22 37 BTBD16 118663 broad.mit.edu 37 10 124036305 124036305 + Splice_Site SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:124036305G>A uc001lgc.1 + 3 270 c.19_splice c.e3-1 p.H7_splice BTBD16_uc001lgd.1_Silent_p.Q5Q NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTACCAAGCAGCACAAAGCTC 0.448 NaN 0 0 0 0.004672 0 3 97 MMP21 118856 broad.mit.edu 37 10 127464241 127464241 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:127464241G>C uc001liu.2 - 1 150 c.150C>G c.(148-150)CTC>CTG p.L50L NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 50 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GAGCAGCGTGGAGGTCGGCAA 0.682 NaN 0 0 0 0.008361 0 28 28 DOCK1 1793 broad.mit.edu 37 10 129224163 129224163 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:129224163G>A uc001ljt.2 + 47 4803 c.4739G>A c.(4738-4740)AGA>AAA p.R1580K DOCK1_uc010qun.1_Missense_Mutation_p.R1601K|DOCK1_uc009yaq.2_Missense_Mutation_p.R575K NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1580 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GAAGGGATCAGAATCCATGGA 0.493 NaN 0 0 0 0.005524 0 39 191 BNIP3 664 broad.mit.edu 37 10 133786615 133786615 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:133786615G>A uc001lkv.1 - 3 331 c.205C>T c.(205-207)CGC>TGC p.R69C BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.R69C NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 69 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GTCTGCGAGCGAGGTGGGCTT 0.468 NaN 0 0 0 0.006999 0 39 118 MRGPRE 116534 broad.mit.edu 37 11 3249790 3249790 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:3249790G>A uc001lxq.3 - 2 547 c.237C>T c.(235-237)ATC>ATT p.I79I NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 79 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCGGGGACGATGGCCACCA 0.622 NaN 0 0 0 0.01441 0 62 31 CHRNA10 57053 broad.mit.edu 37 11 3687403 3687403 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:3687403G>A uc001lyf.2 - 5 1359 c.1287C>T c.(1285-1287)TTC>TTT p.F429F CHRNA10_uc010qxt.1_Silent_p.F223F|CHRNA10_uc010qxu.1_Silent_p.F223F NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 429 Helical; (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TGGCCAGGAAGAAGCGGTCCA 0.627 NaN 0 0 0 0.01441 0 49 20 OR52B4 143496 broad.mit.edu 37 11 4388815 4388815 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:4388815G>C uc010qye.1 - 1 711 c.711C>G c.(709-711)CAC>CAG p.H237Q NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGAGCTTTGTGGCAAGCAT 0.443 NaN 0 0 0 0.00308 0 8 81 OR51B6 390058 broad.mit.edu 37 11 5373369 5373369 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:5373369T>A uc010qzb.1 + 1 632 c.632T>A c.(631-633)ATC>AAC p.I211N HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACTTTCTCATCATCTTTTTC 0.443 NaN 0 0 0 0.01441 0 44 28 DBX1 120237 broad.mit.edu 37 11 20181520 20181520 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:20181520G>A uc001mpw.1 - 1 351 c.351C>T c.(349-351)TCC>TCT p.S117S NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 117 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGGCCCCGAGGAGAGGATGG 0.642 NaN 0 0 0 0.009096 0 4 20 GAS2 2620 broad.mit.edu 37 11 22759311 22759311 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:22759311C>G uc009yie.2 + 5 776 c.470C>G c.(469-471)GCC>GGC p.A157G GAS2_uc001mqm.2_Missense_Mutation_p.A157G|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.A157G NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 157 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 CGGATTGCAGCCAGGTAGGTC 0.468 NaN 0 0 0 0.013537 0 12 52 C11orf49 79096 broad.mit.edu 37 11 47183188 47183188 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:47183188G>A uc001ndp.2 + 9 1101 c.995G>A c.(994-996)TGA>TAA p.*332* C11orf49_uc001nds.2_Intron|C11orf49_uc001ndq.2_3'UTR|C11orf49_uc001ndr.2_Silent_p.*338*|C11orf49_uc010rgx.1_Silent_p.*235*|C11orf49_uc010rgy.1_Silent_p.*323*|C11orf49_uc010rgz.1_Silent_p.*248* NM_024113 NP_077018 Q9H6J7 CK049_HUMAN hypothetical protein LOC79096 isoform 3 332 0 TCGGAGACTTGAGGAGTCCAA 0.622 NaN OREG0020950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 28 10 OR5L1 219437 broad.mit.edu 37 11 55579623 55579623 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:55579623G>A uc001nhw.1 + 1 681 c.681G>A c.(679-681)AAG>AAA p.K227K NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CCATCCTGAAGATGGGCTCTG 0.498 NaN 0 0 0 0.00278 0 24 73 SPRYD5 84767 broad.mit.edu 37 11 55658689 55658689 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:55658689G>C uc010rip.1 + 7 1032 c.940G>C c.(940-942)GAC>CAC p.D314H SPRYD5_uc010riq.1_Missense_Mutation_p.D171H NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 314 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) TGTTGGATGTGACCCTCAAGA 0.388 NaN 0 0 0 0.01441 0 80 46 PC 5091 broad.mit.edu 37 11 66618514 66618514 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:66618514G>C uc001ojn.1 - 15 2269 c.2220C>G c.(2218-2220)ATC>ATG p.I740M PC_uc001ojo.1_Missense_Mutation_p.I740M|PC_uc001ojp.1_Missense_Mutation_p.I740M|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 740 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CAGGCACCTTGATGCACAGGA 0.647 NaN 0 0 0 0.003755 0 37 12 SAPS3 55291 broad.mit.edu 37 11 68363617 68363617 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:68363617G>A uc001onw.2 + 19 2236 c.1969G>A c.(1969-1971)GCA>ACA p.A657T SAPS3_uc001onv.2_Missense_Mutation_p.A657T|SAPS3_uc001ony.3_Missense_Mutation_p.A628T|SAPS3_uc001onx.2_Missense_Mutation_p.A651T|SAPS3_uc009ysh.2_Missense_Mutation_p.A577T|SAPS3_uc001onu.2_Missense_Mutation_p.A577T|SAPS3_uc010rqc.1_Missense_Mutation_p.A425T|SAPS3_uc010rqd.1_Missense_Mutation_p.A340T|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.A107T NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 657 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) AGAAGATGGAGCAAAGCAAGA 0.463 NaN 0 0 0 0.004672 0 3 75 USP35 57558 broad.mit.edu 37 11 77921098 77921098 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:77921098G>A uc009yva.1 + 10 2443 c.2197G>A c.(2197-2199)GAA>AAA p.E733K USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 733 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ggaaaaggaagaagaCAGCCT 0.333 NaN 0 0 0 0.013726 0 34 20 NOX4 50507 broad.mit.edu 37 11 89106617 89106617 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:89106617A>G uc001pct.2 - 12 1357 c.1118T>C c.(1117-1119)ATA>ACA p.I373T NOX4_uc009yvr.2_Missense_Mutation_p.I348T|NOX4_uc001pcu.2_Missense_Mutation_p.I299T|NOX4_uc001pcw.2_Missense_Mutation_p.I66T|NOX4_uc001pcx.2_Missense_Mutation_p.I66T|NOX4_uc001pcv.2_Missense_Mutation_p.I373T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.I207T|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.I349T|NOX4_uc009yvq.2_Missense_Mutation_p.I349T NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 373 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GTCTCCTACTATTTTAAGATG 0.264 NaN 0 0 0 0.01441 0 104 48 FAT3 120114 broad.mit.edu 37 11 92539552 92539552 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:92539552G>A uc001pdj.3 + 11 9135 c.9118G>A c.(9118-9120)GAA>AAA p.E3040K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3040 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTACTTCCTGAAGACATTCC 0.358 NaN TCGA Ovarian(4;0.039) 0 0 0 0.008291 0 11 5 VPS11 55823 broad.mit.edu 37 11 118948238 118948238 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:118948238G>A uc010ryx.1 + 10 1495 c.1453G>A c.(1453-1455)GAT>AAT p.D485N VPS11_uc010ryy.1_Missense_Mutation_p.D331N NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 485 Clathrin. protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) AGTCCACTTTGATGTGGAGAC 0.507 NaN 0 0 0 0.005524 0 33 12 OR10S1 219873 broad.mit.edu 37 11 123848240 123848240 + Silent SNP A A C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:123848240A>C uc001pzm.1 - 1 159 c.159T>G c.(157-159)GCT>GCG p.A53A NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 53 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGAGATTCCCAGCCACAGTGA 0.532 NaN 0 0 0 0.00245 0 14 17 SLC6A13 6540 broad.mit.edu 37 12 344379 344379 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:344379G>A uc001qic.1 - 7 761 c.708C>T c.(706-708)TTC>TTT p.F236F SLC6A13_uc009zdj.1_Silent_p.F236F|SLC6A13_uc010sdl.1_Silent_p.F144F|SLC6A13_uc010sdm.1_Silent_p.F117F NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 236 Helical; Name=5; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATGTGGCCGTGAAGTACACCA 0.433 NaN 0 0 0 0.001984 0 5 20 LRTM2 654429 broad.mit.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:1940449C>T uc001qjt.2 + 4 1222 c.416C>T c.(415-417)TCG>TTG p.S139L CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 139 Extracellular (Potential).|LRR 3. integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CTGCGGCACTCGCCGCTGCTC 0.652 NaN 0 0 0 0.010504 0 20 58 PZP 5858 broad.mit.edu 37 12 9346775 9346775 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:9346775C>G uc001qvl.2 - 11 1181 c.1152G>C c.(1150-1152)GTG>GTC p.V384V PZP_uc009zgl.2_Silent_p.V253V NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGGCGTCATTCACAGAGATGA 0.408 NaN 0 0 0 0.010504 0 20 38 SFRS2IP 9169 broad.mit.edu 37 12 46342235 46342235 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:46342235G>C uc001rox.2 - 5 670 c.383C>G c.(382-384)TCT>TGT p.S128C SFRS2IP_uc001roy.1_Missense_Mutation_p.S202C NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 128 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) ACAGCTTTTAGAATTTTCATG 0.313 NaN 0 0 0 0.001855 0 14 46 SUOX 6821 broad.mit.edu 37 12 56397462 56397462 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:56397462G>C uc001six.2 + 6 615 c.289G>C c.(289-291)GAG>CAG p.E97Q SUOX_uc001siy.2_Missense_Mutation_p.E97Q|SUOX_uc001siz.2_Missense_Mutation_p.E97Q|SUOX_uc001sja.2_Missense_Mutation_p.E97Q NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 97 Cytochrome b5 heme-binding. mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CACCAGCCCTGAGACTGGGAT 0.512 NaN 0 0 0 0.007413 0 19 86 ERBB3 2065 broad.mit.edu 37 12 56486584 56486584 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:56486584G>A uc001sjh.2 + 10 1356 c.1163G>A c.(1162-1164)CGG>CAG p.R388Q ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R329Q|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjj.1_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 388 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) AATGTCTTCCGGACAGTACGG 0.448 NaN 0 0 0 0.00245 0 12 123 LRP1 4035 broad.mit.edu 37 12 57579595 57579595 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:57579595C>T uc001snd.2 + 41 7211 c.6745C>T c.(6745-6747)CCG>TCG p.P2249S NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2249 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGCACCTCTCCGGGCACCCC 0.577 NaN 0 0 0 0.01441 0 47 44 USP15 9958 broad.mit.edu 37 12 62790135 62790135 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:62790135G>C uc001src.1 + 20 2640 c.2631G>C c.(2629-2631)CTG>CTC p.L877L USP15_uc001srb.1_Silent_p.L848L NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 877 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GCTATAATCTGATTGCTGTTT 0.393 NaN 0 0 0 0.013537 0 12 54 CAPS2 84698 broad.mit.edu 37 12 75676043 75676043 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:75676043G>A uc001sxk.3 - 17 1854 c.1657C>T c.(1657-1659)CAA>TAA p.Q553* CAPS2_uc001sxm.3_Nonsense_Mutation_p.Q321*|CAPS2_uc009zsa.2_Nonsense_Mutation_p.Q143*|CAPS2_uc001sxi.3_Nonsense_Mutation_p.Q289*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.Q464*|CAPS2_uc001sxl.3_Nonsense_Mutation_p.Q534* NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 553 calcium ion binding ovary(2) 2 GAAATTACTTGAGAATGCTTC 0.284 NaN 0 0 0 0.010504 0 21 106 MYF5 4617 broad.mit.edu 37 12 81111211 81111211 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:81111211C>T uc001szg.2 + 1 504 c.369C>T c.(367-369)ATC>ATT p.I123I NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 123 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 AGGTGGAGATCCTCAGGAATG 0.597 NaN 0 0 0 0.00278 0 22 134 CCDC38 120935 broad.mit.edu 37 12 96312708 96312708 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:96312708G>C uc001tek.1 - 3 318 c.84C>G c.(82-84)ATC>ATG p.I28M NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 28 skin(1) 1 CTCTGAAAAAGATCTTATAAG 0.338 NaN 0 0 0 0.001855 0 12 86 GAS2L3 283431 broad.mit.edu 37 12 101017394 101017394 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:101017394C>T uc001thu.2 + 10 1037 c.811C>T c.(811-813)CAA>TAA p.Q271* GAS2L3_uc009zty.2_Nonsense_Mutation_p.Q271*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.Q167* NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 271 GAR. cell cycle arrest skin(1) 1 GGATACTCTTCAAGGATTTTT 0.378 NaN 0 0 0 0.01441 0 74 59 APPL2 55198 broad.mit.edu 37 12 105570747 105570747 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:105570747C>G uc001tlf.1 - 19 1937 c.1719G>C c.(1717-1719)AAG>AAC p.K573N APPL2_uc010swt.1_Missense_Mutation_p.K530N|APPL2_uc001tlg.1_Missense_Mutation_p.K327N|APPL2_uc010swu.1_Missense_Mutation_p.K579N NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 573 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CAACCAGTCTCTTGTTTTCTT 0.398 NaN 0 0 0 0.007291 0 30 34 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:106820987C>T uc001tlp.2 + 13 1336 c.1114C>T c.(1114-1116)CTT>TTT p.L372F POLR3B_uc001tlq.2_Missense_Mutation_p.L314F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTATCTCTTCTTTTTGAAGA 0.274 NaN 0 0 0 0.00308 0 6 19 MVK 4598 broad.mit.edu 37 12 110024578 110024578 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:110024578T>C uc001toy.3 + 7 835 c.651T>C c.(649-651)CAT>CAC p.H217H MVK_uc009zvk.2_Silent_p.H217H|MVK_uc010sxr.1_Silent_p.H165H|MVK_uc001toz.3_Silent_p.H23H|MVK_uc001tpc.3_RNA NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 217 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 TCCGATACCATCAAGGGAAGA 0.507 NaN 0 0 0 0.00308 0 7 124 C12orf43 64897 broad.mit.edu 37 12 121454205 121454205 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:121454205G>C uc001tzh.1 - 1 96 c.73C>G c.(73-75)CGG>GGG p.R25G C12orf43_uc009zxa.1_Missense_Mutation_p.R25G|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.R25G|C12orf43_uc001tzi.1_Missense_Mutation_p.R25G NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 25 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGCGGCACCGCTCCAGCTCC 0.622 NaN 0 0 0 0.001168 0 5 74 RNF34 80196 broad.mit.edu 37 12 121867872 121867872 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:121867872G>C uc001uam.1 + 7 1213 c.1099G>C c.(1099-1101)GAA>CAA p.E367Q KDM2B_uc001uaq.2_3'UTR|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_3'UTR|KDM2B_uc001uas.2_3'UTR|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_3'UTR|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_RNA NM_025126 NP_079402 Q969K3 RNF34_HUMAN ring finger protein 34 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) AAATGGTCCAGAAAGCAGTGC 0.483 NaN 0 0 0 0.001855 0 12 59 ULK1 8408 broad.mit.edu 37 12 132403850 132403850 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132403850G>A uc001uje.2 + 24 2873 c.2605G>A c.(2605-2607)GAG>AAG p.E869K NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 869 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CAGCGCCAGTGAGGCGGCGGG 0.682 NaN 0 0 0 0.003163 0 14 33 PUS1 80324 broad.mit.edu 37 12 132426135 132426135 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132426135G>C uc001ujf.2 + 5 1322 c.843G>C c.(841-843)GTG>GTC p.V281V PUS1_uc001ujg.2_Silent_p.V253V|PUS1_uc001ujh.2_Silent_p.V253V|PUS1_uc001uji.2_Silent_p.V228V NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 281 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) AGTTTGCGGTGATCAGGGTGA 0.607 NaN 0 0 0 0.01441 0 60 56 PUS1 80324 broad.mit.edu 37 12 132426465 132426465 + Silent SNP G G C rs142637371 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132426465G>C uc001ujf.2 + 5 1652 c.1173G>C c.(1171-1173)CTG>CTC p.L391L PUS1_uc001ujg.2_Silent_p.L363L|PUS1_uc001ujh.2_Silent_p.L363L|PUS1_uc001uji.2_Silent_p.L338L NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 391 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCCAGTGGCTGAGCACCTTGC 0.637 NaN 0 0 0 0.012213 0 33 24 SKA3 221150 broad.mit.edu 37 13 21736001 21736001 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:21736001C>T uc001unt.2 - 5 851 c.757G>A c.(757-759)GAT>AAT p.D253N SKA3_uc001unv.2_Missense_Mutation_p.D171N|SKA3_uc001unu.2_Missense_Mutation_p.D253N NM_145061 NP_659498 Q8IX90 SKA3_HUMAN SKA3 253 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding 0 GATTCTGTATCTATGGCCTCC 0.363 NaN 0 0 0 0.001984 0 6 15 FAM48A 55578 broad.mit.edu 37 13 37584737 37584737 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:37584737C>T uc001uwg.2 - 25 2402 c.2154G>A c.(2152-2154)CAG>CAA p.Q718Q FAM48A_uc010abt.2_Intron|FAM48A_uc001uwh.2_Intron|FAM48A_uc001uwi.2_Intron|FAM48A_uc001uwj.2_Intron|FAM48A_uc001uwk.2_Intron|FAM48A_uc001uwd.2_Intron|FAM48A_uc001uwe.2_Silent_p.Q202Q|FAM48A_uc001uwf.2_Silent_p.Q284Q NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 718 Gln-rich. autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) GCTGGAATCTCTGCTGAGGAA 0.463 NaN 0 0 0 0.00278 0 21 56 DIS3 22894 broad.mit.edu 37 13 73334716 73334716 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:73334716G>A uc001vix.3 - 20 3118 c.2744C>T c.(2743-2745)TCA>TTA p.S915L DIS3_uc001viy.3_Missense_Mutation_p.S885L|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 915 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAGATTAGATGAGTCTAACAT 0.328 NaN Multiple Myeloma(4;0.011) 0 0 0 0.01441 0 53 36 TPP2 7174 broad.mit.edu 37 13 103301811 103301811 + Nonsense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:103301811C>G uc001vpi.3 + 23 3030 c.2927C>G c.(2926-2928)TCA>TGA p.S976* NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 976 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTAACATTGTCAAAGACTGAA 0.303 NaN 0 0 0 0.004007 0 12 72 ARHGEF7 8874 broad.mit.edu 37 13 111932947 111932947 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:111932947G>C uc001vrs.2 + 16 1961 c.1711G>C c.(1711-1713)GAG>CAG p.E571Q ARHGEF7_uc001vrr.2_Missense_Mutation_p.E550Q|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E521Q|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E393Q|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E468Q|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E315Q|ARHGEF7_uc001vry.1_5'Flank NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 571 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GGAATGGGTGGAGCACCTACA 0.498 NaN 0 0 0 0.01441 0 75 78 OR10G2 26534 broad.mit.edu 37 14 22102290 22102290 + Missense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:22102290C>A uc010tmc.1 - 1 709 c.709G>T c.(709-711)GAT>TAT p.D237Y NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CGCCTCCCATCAGCGGTGCGT 0.542 NaN 1 0 7.45023e-12 0.010504 7.9146e-12 21 24 OR10G2 26534 broad.mit.edu 37 14 22102306 22102306 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:22102306C>T uc010tmc.1 - 1 693 c.693G>A c.(691-693)CTG>CTA p.L231L NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGCGTATCTTCAGGATGGCAT 0.532 NaN 0 0 0 0.006122 0 18 24 PSMB5 5693 broad.mit.edu 37 14 23502856 23502856 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:23502856C>G uc001wii.2 - 2 490 c.226G>C c.(226-228)GAC>CAC p.D76H PSMB5_uc001wij.2_Missense_Mutation_p.D76H|PSMB5_uc010tni.1_5'UTR NM_002797 NP_002788 P28074 PSB5_HUMAN proteasome beta 5 subunit isoform 1 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) GCCCTGGAGTCAGCTGCAACT 0.507 NaN 0 0 0 0.003163 0 14 27 INSM2 84684 broad.mit.edu 37 14 36005008 36005008 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:36005008C>G uc001wth.1 + 1 1761 c.1550C>G c.(1549-1551)TCT>TGT p.S517C NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AGCGGGCCATCTGACGGGAGT 0.627 NaN 0 0 0 0.010729 0 12 22 HIF1A 3091 broad.mit.edu 37 14 62207727 62207727 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:62207727G>A uc001xfq.2 + 12 2318 c.1914G>A c.(1912-1914)TTG>TTA p.L638L HIF1A_uc001xfr.2_Silent_p.L638L|HIF1A_uc001xfs.2_Silent_p.L639L NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 638 ID. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TTAAAATATTGATTGCATCTC 0.408 NaN 0 0 0 0.005443 0 27 28 CYP46A1 10858 broad.mit.edu 37 14 100157465 100157465 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:100157465G>A uc001ygo.2 + 2 167 c.167G>A c.(166-168)GGT>GAT p.G56D CYP46A1_uc001ygn.1_Missense_Mutation_p.V4M NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 56 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) GATGAGGTTGGTGGCCGTGTG 0.493 NaN 0 0 0 0.010771 0 38 66 GCHFR 2644 broad.mit.edu 37 15 41056393 41056393 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:41056393C>T uc001zmr.1 + 1 109 c.15C>T c.(13-15)CTC>CTT p.L5L GCHFR_uc010ucr.1_Silent_p.L5L NM_005258 NP_005249 P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulatory 5 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane ovary(1) 1 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CCTACCTGCTCATCAGCACCC 0.701 NaN 0 0 0 0.009096 0 4 1 GCHFR 2644 broad.mit.edu 37 15 41056396 41056396 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:41056396C>T uc001zmr.1 + 1 112 c.18C>T c.(16-18)ATC>ATT p.I6I GCHFR_uc010ucr.1_Silent_p.I6I NM_005258 NP_005249 P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulatory 6 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane ovary(1) 1 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) ACCTGCTCATCAGCACCCAGA 0.701 NaN 0 0 0 0.000602 0 5 1 UNC13C 440279 broad.mit.edu 37 15 54630580 54630580 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:54630580C>T uc002ack.2 + 15 4606 c.4606C>T c.(4606-4608)CCA>TCA p.P1536S UNC13C_uc002acl.2_Missense_Mutation_p.P366S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1536 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAAAGCCCCCCAAAAGCGAG 0.403 NaN 0 0 0 0.01441 0 53 35 RNF111 54778 broad.mit.edu 37 15 59350651 59350651 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350651C>T uc002afv.2 + 5 1547 c.1268C>T c.(1267-1269)TCT>TTT p.S423F RNF111_uc002afs.2_Missense_Mutation_p.S423F|RNF111_uc002aft.2_Missense_Mutation_p.S423F|RNF111_uc002afu.2_Missense_Mutation_p.S423F|RNF111_uc002afw.2_Missense_Mutation_p.S423F NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 423 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) GAGCAGGCCTCTGATACTGCT 0.458 NaN 0 0 0 0.01441 0 154 113 RNF111 54778 broad.mit.edu 37 15 59350705 59350705 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350705C>T uc002afv.2 + 5 1601 c.1322C>T c.(1321-1323)TCA>TTA p.S441L RNF111_uc002afs.2_Missense_Mutation_p.S441L|RNF111_uc002aft.2_Missense_Mutation_p.S441L|RNF111_uc002afu.2_Missense_Mutation_p.S441L|RNF111_uc002afw.2_Missense_Mutation_p.S441L NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 441 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TCAGAGACTTCAGCTACTCTT 0.448 NaN 0 0 0 0.01441 0 129 112 RNF111 54778 broad.mit.edu 37 15 59350741 59350741 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350741C>G uc002afv.2 + 5 1637 c.1358C>G c.(1357-1359)TCT>TGT p.S453C RNF111_uc002afs.2_Missense_Mutation_p.S453C|RNF111_uc002aft.2_Missense_Mutation_p.S453C|RNF111_uc002afu.2_Missense_Mutation_p.S453C|RNF111_uc002afw.2_Missense_Mutation_p.S453C NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 453 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) ACTGGCACTTCTATAGGAGGT 0.413 NaN 0 0 0 0.01441 0 118 78 AGBL1 123624 broad.mit.edu 37 15 86790936 86790936 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:86790936C>T uc002blz.1 + 6 503 c.423C>T c.(421-423)TAC>TAT p.Y141Y NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 141 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ACCGAGGCTACGTCACCAGCC 0.592 NaN 0 0 0 0.006214 0 10 8 UBN1 29855 broad.mit.edu 37 16 4908646 4908646 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:4908646C>T uc002cyb.2 + 4 753 c.414C>T c.(412-414)TTC>TTT p.F138F UBN1_uc010uxw.1_Silent_p.F138F|UBN1_uc002cyc.2_Silent_p.F138F NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 138 Sufficient for interaction with HIRA. F->E: Strongly diminishes interaction with HIRA; when associated with E-139 and L-140. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CCGACTCCTTCATCGATAACT 0.463 NaN 0 0 0 0.006214 0 10 16 INO80E 283899 broad.mit.edu 37 16 30007659 30007659 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:30007659G>C uc002dvg.1 + 1 129 c.28G>C c.(28-30)GAC>CAC p.D10H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.D10H|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.D10H|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank NM_173618 NP_775889 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 10 Potential. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex skin(1) 1 CGGCGAAGTGGACTACAAAAA 0.652 NaN 0 0 0 0.001168 0 5 10 TPPP3 51673 broad.mit.edu 37 16 67424463 67424463 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:67424463G>C uc002esz.2 - 2 1096 c.261C>G c.(259-261)TTC>TTG p.F87L TPPP3_uc002eta.2_Missense_Mutation_p.F87L|TPPP3_uc002etb.2_Missense_Mutation_p.F87L NM_016140 NP_057224 Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family 87 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TCTTCCCCTTGAATCTCTTGG 0.582 NaN 0 0 0 0.01441 0 158 88 SLC12A4 6560 broad.mit.edu 37 16 67986272 67986272 + Silent SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:67986272C>A uc002euz.2 - 7 873 c.732G>T c.(730-732)TCG>TCT p.S244S SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.R166L NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 244 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGTGGCATTCGACGTGTCAT 0.453 NaN 1 0 1.32136e-16 0.00874 1.41522e-16 44 16 COG8 84342 broad.mit.edu 37 16 69373430 69373430 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:69373430G>A uc002ewy.2 - 1 97 c.26C>T c.(25-27)TCG>TTG p.S9L COG8_uc002ewz.3_Missense_Mutation_p.S9L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 9 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 CGTGGCTACCGATGGGATAGT 0.652 NaN OREG0023907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 19 4 ZC3H18 124245 broad.mit.edu 37 16 88677707 88677707 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:88677707G>A uc002fky.2 + 8 1438 c.1238G>A c.(1237-1239)AGA>AAA p.R413K ZC3H18_uc010voy.1_Missense_Mutation_p.R296K|ZC3H18_uc010voz.1_Missense_Mutation_p.R437K|ZC3H18_uc010chw.2_RNA NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 413 Potential. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) agagagaacagacagcgcgag 0 NaN 0 0 0 0.010504 0 22 6 TUBB3 10381 broad.mit.edu 37 16 90001896 90001896 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:90001896C>T uc002fph.1 + 4 1102 c.1037C>T c.(1036-1038)CCC>CTC p.P346L TUBB3_uc002fpf.2_Missense_Mutation_p.P693L|TUBB3_uc010ciz.1_Missense_Mutation_p.P274L|TUBB3_uc002fpg.1_Missense_Mutation_p.P200L|TUBB3_uc002fpi.1_Missense_Mutation_p.P274L|TUBB3_uc002fpj.1_Missense_Mutation_p.P274L|TUBB3_uc010cjb.1_Missense_Mutation_p.P200L|TUBB3_uc002fpk.1_Missense_Mutation_p.P200L NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 346 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAGTGGATCCCCAACAACGTG 0.612 NaN 0 0 0 0.01441 0 139 60 SMYD4 114826 broad.mit.edu 37 17 1703353 1703353 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:1703353G>C uc002ftm.3 - 5 1503 c.1335C>G c.(1333-1335)CTC>CTG p.L445L SMYD4_uc002ftn.1_Silent_p.L300L NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 445 zinc ion binding skin(3)|kidney(2) 5 CAGAAACACAGAGAGCACAGA 0.453 NaN 0 0 0 0.004289 0 38 33 ATP1B2 482 broad.mit.edu 37 17 7554879 7554879 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:7554879G>C uc002gif.1 + 1 626 c.43G>C c.(43-45)GAG>CAG p.E15Q NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 15 Cytoplasmic (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GCAGGTGGTTGAGGAGTGGAA 0.697 NaN 0 0 0 0.004672 0 2 6 ALOXE3 59344 broad.mit.edu 37 17 8018956 8018956 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:8018956G>A uc010cnr.2 - 4 773 c.403C>T c.(403-405)CGG>TGG p.R135W ALOXE3_uc002gka.2_Missense_Mutation_p.R291W|ALOXE3_uc010vuo.1_Missense_Mutation_p.R267W|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 135 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 CGGAGCTCCCGTGTCCTGTGA 0.473 NaN 0 0 0 0.007835 0 36 26 NTN1 9423 broad.mit.edu 37 17 8926345 8926345 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:8926345G>A uc002glw.3 + 2 762 c.655G>A c.(655-657)GCC>ACC p.A219T NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 219 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CGGCCTCATCGCCTTCAGCAC 0.701 NaN 0 0 0 0.000602 0 5 8 TRPV2 51393 broad.mit.edu 37 17 16327060 16327060 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:16327060C>T uc002gpy.2 + 5 1270 c.903C>T c.(901-903)GCC>GCT p.A301A TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 301 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 6. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGAAGCTGGCCGCCAAGGAGG 0.597 NaN 0 0 0 0.00499 0 16 17 PLD6 201164 broad.mit.edu 37 17 17109483 17109483 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:17109483C>T uc002gqz.2 - 1 150 c.118G>A c.(118-120)GAG>AAG p.E40K PLD6_uc010cpn.2_Intron NM_178836 NP_849158 Q8N2A8 PLD6_HUMAN phospholipase D6 40 Cytoplasmic (Potential). DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity 0 AACAGCGCCTcgcgccgcggc 0.667 NaN 0 0 0 0.000602 0 5 3 MLLT6 4302 broad.mit.edu 37 17 36863784 36863784 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:36863784G>A uc002hqi.3 + 3 248 c.235G>A c.(235-237)GAT>AAT p.D79N MLLT6_uc010wdr.1_Missense_Mutation_p.D79N|MLLT6_uc010cvm.1_Missense_Mutation_p.D79N NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 79 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GAAGAGGACTGATAATGGAGG 0.612 NaN T MLL AL 0 0 0 0.010504 0 19 90 CACNB1 782 broad.mit.edu 37 17 37331640 37331640 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37331640G>A uc002hrm.1 - 14 1756 c.1603C>T c.(1603-1605)CCT>TCT p.P535S CACNB1_uc002hrl.1_Missense_Mutation_p.P307S NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 535 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCCCCTGCAGGGTCTCCAAGC 0.657 NaN OREG0024371 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 66 357 MED1 5469 broad.mit.edu 37 17 37564338 37564338 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37564338G>A uc002hrv.3 - 17 4348 c.4136C>T c.(4135-4137)TCA>TTA p.S1379L MED1_uc010wee.1_Missense_Mutation_p.S1207L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1379 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTTGACTCTGAGGTCTTCTT 0.443 NaN HNSCC(31;0.082) 0 0 0 0.01441 0 52 76 MED1 5469 broad.mit.edu 37 17 37564821 37564821 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37564821G>C uc002hrv.3 - 17 3865 c.3653C>G c.(3652-3654)TCC>TGC p.S1218C MED1_uc010wee.1_Missense_Mutation_p.S1046C|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1218 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCTTTAGAGGATGGAGGAGT 0.478 NaN HNSCC(31;0.082) 0 0 0 0.005524 0 38 30 DCAKD 79877 broad.mit.edu 37 17 43112207 43112207 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:43112207G>A uc002ihx.2 - 1 303 c.47C>T c.(46-48)TCA>TTA p.S16L DCAKD_uc010daa.1_Missense_Mutation_p.S16L|DCAKD_uc010dab.1_Missense_Mutation_p.S16L|DCAKD_uc002ihy.2_Missense_Mutation_p.S16L NM_024819 NP_079095 Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 16 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity 0 Prostate(33;0.155) CTGGATCACTGAGCTCTTGCC 0.612 NaN 0 0 0 0.004482 0 8 46 CDC27 996 broad.mit.edu 37 17 45199920 45199920 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:45199920G>A uc002ild.3 - 18 2409 c.2282C>T c.(2281-2283)TCT>TTT p.S761F CDC27_uc002ile.3_Missense_Mutation_p.S767F|CDC27_uc002ilf.3_Missense_Mutation_p.S760F|CDC27_uc010wkp.1_Missense_Mutation_p.S700F|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 761 TPR 9. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 CATAGCCCAAGAGAAATTCAT 0.383 NaN 0 0 0 0.012213 0 34 38 DLX3 1747 broad.mit.edu 37 17 48068882 48068882 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:48068882C>T uc002ipy.2 - 3 1089 c.863G>A c.(862-864)TGA>TAA p.*288* NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GATGGGTGCTCAGTACACAGC 0.642 NaN 0 0 0 0.000602 0 5 26 TOB1 10140 broad.mit.edu 37 17 48940478 48940478 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:48940478G>A uc002isw.2 - 1 936 c.901C>T c.(901-903)CTC>TTC p.L301F TOB1_uc010wmy.1_Missense_Mutation_p.L301F|TOB1_uc010wmz.1_Missense_Mutation_p.L301F NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 301 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGTACTGGAGAGGACTGAGG 0.413 NaN 0 0 0 0.01441 0 43 47 NME1-NME2 654364 broad.mit.edu 37 17 49231768 49231768 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:49231768C>T uc002itk.2 + 2 287 c.34C>T c.(34-36)CAA>TAA p.Q12* NME1_uc010dbx.1_Nonsense_Mutation_p.Q12*|NME1_uc002ith.1_Nonsense_Mutation_p.Q12*|NME1_uc002iti.1_Intron|NME1-NME2_uc002itj.2_Intron NM_002512 NP_002503 P22392 NDKB_HUMAN nucleoside diphosphate kinase B Error:Variant_position_missing_in_P22392_after_alignment cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process cytosol|lamellipodium|nucleus|ruffle ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GATCGTCTTTCAAGGCGAGGG 0.308 NaN 0 0 0 0.003755 0 31 99 VEZF1 7716 broad.mit.edu 37 17 56060115 56060115 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:56060115C>T uc002ivf.1 - 2 816 c.673G>A c.(673-675)GAA>AAA p.E225K VEZF1_uc010dcn.1_Missense_Mutation_p.E69K NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 225 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 ATGCCTCCTTCATGAGACCTC 0.408 NaN 0 0 0 0.004007 0 16 100 TBX2 6909 broad.mit.edu 37 17 59482604 59482604 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:59482604G>C uc010wox.1 + 6 1374 c.1093G>C c.(1093-1095)GAG>CAG p.E365Q TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.E211Q NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 365 cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 CCCGGAGCCTGAGCGGTTGAG 0.741 NaN 0 0 0 0.000602 0 5 9 DDX42 11325 broad.mit.edu 37 17 61895626 61895626 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:61895626G>C uc002jbu.2 + 19 2942 c.2685G>C c.(2683-2685)AAG>AAC p.K895N DDX42_uc002jbv.2_Missense_Mutation_p.K895N|DDX42_uc002jbx.2_Missense_Mutation_p.K631N|DDX42_uc002jby.2_Missense_Mutation_p.K441N|DDX42_uc010wps.1_Missense_Mutation_p.K263N NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 895 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 GTGAGAGCAAGATGGAGCCCA 0.547 NaN 0 0 0 0.006999 0 43 63 GPRC5C 55890 broad.mit.edu 37 17 72436224 72436224 + Silent SNP C C T rs148101331 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:72436224C>T uc002jks.2 + 1 348 c.309C>T c.(307-309)CTC>CTT p.L103L GPRC5C_uc002jkp.2_Silent_p.L148L|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.L115L|GPRC5C_uc002jkt.2_Silent_p.L103L|GPRC5C_uc002jku.2_5'Flank NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 103 Helical; Name=2; (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 TCTTCTGCCTCGTGTTTGCCT 0.607 NaN 0 0 0 0.00623 0 38 69 CASKIN2 57513 broad.mit.edu 37 17 73503147 73503147 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:73503147C>T uc002joc.2 - 5 858 c.308G>A c.(307-309)CGC>CAC p.R103H CASKIN2_uc010wsc.1_Missense_Mutation_p.R21H|CASKIN2_uc002jod.2_Missense_Mutation_p.R103H NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 103 ANK 2. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCAGAGGCGCGCAGCAGCAG 0.662 NaN 0 0 0 0.00308 0 8 20 UBE2O 63893 broad.mit.edu 37 17 74388108 74388108 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:74388108G>A uc002jrm.3 - 16 3098 c.3033C>T c.(3031-3033)ATC>ATT p.I1011I UBE2O_uc002jrl.3_Silent_p.I615I NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1011 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 CGGCTGGGTAGATGTTGGGGA 0.592 NaN 0 0 0 0.00278 0 21 25 CBX4 8535 broad.mit.edu 37 17 77808594 77808594 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:77808594C>A uc002jxe.2 - 5 1010 c.847G>T c.(847-849)GAG>TAG p.E283* NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 283 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCTGCCACCTCGCCGGACTTG 0.592 NaN OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.25985e-27 0.01441 3.53978e-27 75 103 LPIN2 9663 broad.mit.edu 37 18 2925292 2925292 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:2925292G>A uc002klo.2 - 14 2107 c.1868C>T c.(1867-1869)CCC>CTC p.P623L NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 623 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGGCTCTGTGGGGATGGGGTC 0.547 NaN 0 0 0 0.003755 0 35 111 MYO5B 4645 broad.mit.edu 37 18 47500848 47500848 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:47500848G>C uc002leb.2 - 10 1482 c.1194C>G c.(1192-1194)ATC>ATG p.I398M MYO5B_uc002lec.1_Missense_Mutation_p.I397M NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 398 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TGCGCGCATTGATCACCTGCT 0.582 NaN 0 0 0 0.004656 0 27 29 ZNF407 55628 broad.mit.edu 37 18 72347227 72347227 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:72347227G>C uc002llw.2 + 1 4309 c.4252G>C c.(4252-4254)GAT>CAT p.D1418H ZNF407_uc010xfc.1_Missense_Mutation_p.D1418H|ZNF407_uc010dqu.1_Missense_Mutation_p.D1418H|ZNF407_uc002llu.2_Missense_Mutation_p.D1417H NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TCGCTGTGATGATTGTGGCTT 0.438 NaN 0 0 0 0.004482 0 9 31 SH3GL1 6455 broad.mit.edu 37 19 4363857 4363857 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:4363857C>T uc002maj.2 - 6 590 c.484G>A c.(484-486)GAG>AAG p.E162K SH3GL1_uc002mak.2_Missense_Mutation_p.E98K|SH3GL1_uc010xig.1_Missense_Mutation_p.E114K NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 162 Potential.|BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CGGCGGCCCTCCAGTTTCTTC 0.627 NaN T MLL AL 0 0 0 0.003271 0 32 26 SH3GL1 6455 broad.mit.edu 37 19 4364106 4364106 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:4364106C>T uc002maj.2 - 5 550 c.444G>A c.(442-444)GAG>GAA p.E148E SH3GL1_uc002mak.2_Silent_p.E84E|SH3GL1_uc010xig.1_Silent_p.E100E NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 148 Potential.|BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TCAGGTCTTTCTCGCACAGGT 0.632 NaN T MLL AL 0 0 0 0.00333 0 23 15 C19orf45 374877 broad.mit.edu 37 19 7565879 7565879 + Silent SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:7565879G>T uc002mgm.2 + 2 312 c.171G>T c.(169-171)CCG>CCT p.P57P NM_198534 NP_940936 Q8NA69 CS045_HUMAN hypothetical protein LOC374877 57 0 GGGAGCCGCCGAGCCTGCAGC 0.736 NaN 1 0 0.00198382 0.001984 0.00206275 7 7 EVI5L 115704 broad.mit.edu 37 19 7928478 7928478 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:7928478G>A uc002min.2 + 19 2429 c.2275G>A c.(2275-2277)GAT>AAT p.D759N EVI5L_uc010xjz.1_Missense_Mutation_p.D770N NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 759 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GTCCCCGCGCGATGCGCGCTT 0.687 NaN 0 0 0 0.010729 0 9 16 ADAMTS10 81794 broad.mit.edu 37 19 8654126 8654126 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:8654126C>T uc002mkj.1 - 18 2432 c.2158G>A c.(2158-2160)GGG>AGG p.G720R ADAMTS10_uc002mki.1_Missense_Mutation_p.G207R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G352R NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 720 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 AGACTCTCACCGGCCCCAGGT 0.637 NaN 0 0 0 0.011902 0 40 38 ADAMTS10 81794 broad.mit.edu 37 19 8654344 8654344 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:8654344C>T uc002mkj.1 - 17 2300 c.2026G>A c.(2026-2028)GAA>AAA p.E676K ADAMTS10_uc002mki.1_Missense_Mutation_p.E163K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E308K NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 676 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 ACCTTGCATTCGCCACTGACG 0.657 NaN 0 0 0 0.01441 0 95 84 MUC16 94025 broad.mit.edu 37 19 9060229 9060229 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:9060229C>T uc002mkp.2 - 3 27421 c.27217G>A c.(27217-27219)GAA>AAA p.E9073K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9075 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 TCTGTAGATTCTGTCTTGATG 0.488 NaN 0 0 0 0.01441 0 98 74 ZNF846 162993 broad.mit.edu 37 19 9868197 9868197 + Nonsense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:9868197G>C uc002mmb.1 - 6 2087 c.1556C>G c.(1555-1557)TCA>TGA p.S519* ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.S390* NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 519 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGCAAGTGCTGAAGATTGAGT 0.368 NaN 0 0 0 0.010771 0 43 122 PDE4A 5141 broad.mit.edu 37 19 10561309 10561309 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:10561309C>T uc002moj.2 + 5 759 c.651C>T c.(649-651)GTC>GTT p.V217V PDE4A_uc002mok.2_Silent_p.V191V|PDE4A_uc002mol.2_Silent_p.V156V|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 217 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CCACCCCTGTCTGCAAGGCCA 0.672 NaN 0 0 0 0.013537 0 10 18 SMARCA4 6597 broad.mit.edu 37 19 11151989 11151989 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:11151989G>A uc002mqf.3 + 30 4461 c.4177G>A c.(4177-4179)GAG>AAG p.E1393K SMARCA4_uc010dxp.2_Missense_Mutation_p.E1393K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1425K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1360K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1360K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1363K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1363K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E483K NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1393 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 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) GAAGGCCATCGAGGAGGGCAC 0.627 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.01441 0 48 48 ZNF799 90576 broad.mit.edu 37 19 12501795 12501795 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:12501795C>G uc010dyt.2 - 4 1567 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TATGGCTTCTCTCCAGCATGA 0.383 NaN 0 0 0 0.01441 0 49 95 AP1M1 8907 broad.mit.edu 37 19 16337279 16337279 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:16337279C>T uc002ndu.2 + 6 767 c.594C>T c.(592-594)ATC>ATT p.I198I AP1M1_uc002ndv.2_Silent_p.I210I|AP1M1_uc010xpd.1_Silent_p.I198I NM_032493 NP_115882 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 198 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(3)|breast(1) 4 TGGGCTCCATCAAGATGCGAG 0.652 NaN 0 0 0 0.004482 0 9 4 ZNF254 9534 broad.mit.edu 37 19 24309978 24309978 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:24309978T>C uc002nru.2 + 4 1310 c.1176T>C c.(1174-1176)ACT>ACC p.T392T ZNF254_uc010xrk.1_Silent_p.T307T NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 392 C2H2-type 7. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AACTCTCAACTCTTACTACAC 0.353 NaN 0 0 0 0.001855 0 5 49 ZNF536 9745 broad.mit.edu 37 19 31039401 31039401 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:31039401C>G uc002nsu.1 + 4 3013 c.2875C>G c.(2875-2877)CCC>GCC p.P959A ZNF536_uc010edd.1_Missense_Mutation_p.P959A NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 959 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGAGGAGAAACCCAGTGGCAA 0.577 NaN 0 0 0 0.004482 0 9 185 ARHGAP33 115703 broad.mit.edu 37 19 36279303 36279303 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:36279303C>T uc002obs.1 + 21 3438 c.3353C>T c.(3352-3354)TCT>TTT p.S1118F ARHGAP33_uc002obt.1_Missense_Mutation_p.S1115F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S867F NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1279 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TCCCTCCACTCTGAGGGCCAG 0.632 NaN 0 0 0 0.001168 0 6 7 RYR1 6261 broad.mit.edu 37 19 38973699 38973699 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:38973699C>T uc002oit.2 + 32 4783 c.4653C>T c.(4651-4653)GTC>GTT p.V1551V RYR1_uc002oiu.2_Silent_p.V1551V NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1551 Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats. 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) TTCCTGCCGTCTTCGTCCTGC 0.587 NaN 0 0 0 0.01441 0 81 76 SAMD4B 55095 broad.mit.edu 37 19 39866385 39866385 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:39866385G>C uc002olb.2 + 7 1798 c.763G>C c.(763-765)GAG>CAG p.E255Q SAMD4B_uc002ola.2_Missense_Mutation_p.E255Q NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 255 protein binding 0 all_cancers(60;2.5e-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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAGTCCAGAGGAGCTTGGGGC 0.652 NaN 0 0 0 0.01441 0 166 173 SAMD4B 55095 broad.mit.edu 37 19 39868175 39868175 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:39868175G>C uc002olb.2 + 10 2190 c.1155G>C c.(1153-1155)CAG>CAC p.Q385H SAMD4B_uc002ola.2_Missense_Mutation_p.Q385H NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 385 protein binding 0 all_cancers(60;2.5e-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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCTGCAGCAGATCATCATCA 0.627 NaN 0 0 0 0.01441 0 49 72 TMEM145 284339 broad.mit.edu 37 19 42827851 42827851 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:42827851C>T uc002otk.1 + 14 1363 c.1311C>T c.(1309-1311)TTC>TTT p.F437F MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 437 integral to membrane 0 Prostate(69;0.00682) ACAAGGCCTTCCCGCAGCACG 0.642 NaN 0 0 0 0.01441 0 56 75 CEACAM8 1088 broad.mit.edu 37 19 43097978 43097978 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:43097978C>T uc002oud.2 - 2 241 c.139G>A c.(139-141)GAG>AAG p.E47K uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 47 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) TCCTTCCCCTCTGCAGCATTG 0.537 NaN 0 0 0 0.01441 0 115 126 PRKD2 25865 broad.mit.edu 37 19 47219391 47219391 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:47219391C>T uc002pfh.2 - 2 579 c.237G>A c.(235-237)CAG>CAA p.Q79Q PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.Q79Q|PRKD2_uc002pfj.2_Silent_p.Q79Q|PRKD2_uc010xye.1_Silent_p.Q79Q|PRKD2_uc002pfk.2_5'UTR NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 79 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCCTCACCTTCTGGTCCACGA 0.657 NaN 0 0 0 0.01441 0 50 43 SCAF1 58506 broad.mit.edu 37 19 50155955 50155955 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:50155955G>A uc002poq.2 + 7 2433 c.2309G>A c.(2308-2310)CGG>CAG p.R770Q NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 770 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGGTCTCGTCGGAAGGCGCTG 0.577 NaN 0 0 0 0.009096 0 4 5 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:53116885A>G uc002pzu.3 - 2 2177 c.933T>C c.(931-933)CAT>CAC p.H311H ZNF83_uc002pzv.3_Silent_p.H311H|ZNF83_uc010eps.2_Silent_p.H283H|ZNF83_uc010ept.2_Silent_p.H311H|ZNF83_uc010epu.2_Silent_p.H311H|ZNF83_uc010epv.2_Silent_p.H311H|ZNF83_uc010epw.2_Silent_p.H311H|ZNF83_uc010epx.2_Silent_p.H283H|ZNF83_uc010epy.2_Silent_p.H311H|ZNF83_uc010epz.2_Silent_p.H283H NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 311 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418 NaN 0 0 0 0.004672 0 3 129 LAIR1 3903 broad.mit.edu 37 19 54872615 54872615 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:54872615A>G uc002qfk.1 - 3 582 c.272T>C c.(271-273)GTA>GCA p.V91A LAIR1_uc002qfl.1_Missense_Mutation_p.V91A|LAIR1_uc002qfm.1_Missense_Mutation_p.V90A|LAIR1_uc002qfn.1_Missense_Mutation_p.V90A|LAIR1_uc010yex.1_Missense_Mutation_p.V84A|LAIR1_uc002qfo.2_Missense_Mutation_p.V73A NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 91 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCCTTCACTTACTGAGTCAAT 0.498 NaN 0 0 0 0.008291 0 9 276 EPS8L1 54869 broad.mit.edu 37 19 55594761 55594761 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:55594761G>A uc002qis.3 + 13 1334 c.1230G>A c.(1228-1230)CCG>CCA p.P410P EPS8L1_uc010ess.1_Silent_p.P392P|EPS8L1_uc010est.1_Silent_p.P410P|EPS8L1_uc010yfr.1_Silent_p.P346P|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.P283P|EPS8L1_uc002qiv.2_Silent_p.P56P|EPS8L1_uc002qiw.2_Silent_p.P157P NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 410 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGCTGTCCCCGGAGGAGGGAC 0.627 NaN 0 0 0 0.00623 0 35 32 TMEM150B 284417 broad.mit.edu 37 19 55824272 55824272 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:55824272G>A uc010esw.1 - 8 830 c.657C>T c.(655-657)CTC>CTT p.L219L TMEM150B_uc010yfu.1_Silent_p.L219L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 219 Cytoplasmic (Potential). integral to membrane 0 GCGGGGGGCTGAGGCTGGGCC 0.672 NaN 0 0 0 0.004482 0 7 13 ZNF784 147808 broad.mit.edu 37 19 56133794 56133794 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:56133794C>G uc002qll.1 - 2 309 c.295G>C c.(295-297)GAC>CAC p.D99H ZNF784_uc010etb.1_RNA NM_203374 NP_976308 Q8NCA9 ZN784_HUMAN zinc finger protein 784 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGCTCGGGTCCCCACCCTGC 0.726 NaN 0 0 0 0.009096 0 4 19 ZNF548 147694 broad.mit.edu 37 19 57908503 57908503 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:57908503G>A uc002qom.2 + 2 353 c.103G>A c.(103-105)GAT>AAT p.D35N ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.D38N NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(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) GCTGTACCGTGATGTGATGCT 0.532 NaN 0 0 0 0.01441 0 169 425 TPO 7173 broad.mit.edu 37 2 1459852 1459852 + Missense_Mutation SNP G G T rs144088710 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:1459852G>T uc002qww.2 + 7 708 c.617G>T c.(616-618)CGG>CTG p.R206L TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R206L|TPO_uc002qwr.2_Missense_Mutation_p.R206L|TPO_uc002qwx.2_Missense_Mutation_p.R206L|TPO_uc010yio.1_Missense_Mutation_p.R206L|TPO_uc010yip.1_Missense_Mutation_p.R206L NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 206 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACCCAGGTCCGGGAGGTGACA 0.502 NaN 1 0 0.000602214 0.000602 0.000627841 4 19 BIRC6 57448 broad.mit.edu 37 2 32626615 32626615 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:32626615G>A uc010ezu.2 + 8 1476 c.1342G>A c.(1342-1344)GAT>AAT p.D448N NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 448 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) CTCAGGAGTTGATTCAAGGAG 0.398 NaN 0 0 0 0.00623 0 42 51 CYP1B1 1545 broad.mit.edu 37 2 38301609 38301609 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:38301609G>A uc002rqo.2 - 3 1326 c.923C>T c.(922-924)TCG>TTG p.S308L NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 308 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) ACCACCGTGCGAGTCCCCGGC 0.542 NaN 0 0 0 0.010504 0 20 27 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48906488 48906488 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:48906488G>A uc010yol.1 + 8 3362 c.3315G>A c.(3313-3315)AAG>AAA p.K1105K STON1-GTF2A1L_uc002rwp.1_Silent_p.K1152K|GTF2A1L_uc002rws.1_Silent_p.K448K|GTF2A1L_uc010yom.1_Silent_p.K414K|GTF2A1L_uc002rwt.2_Intron NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1105 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATCGAAGCAAGAACAAATGGA 0.353 NaN 0 0 0 0.005443 0 29 35 NRXN1 9378 broad.mit.edu 37 2 50318575 50318575 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:50318575C>G uc010fbp.2 - 3 1306 c.499G>C c.(499-501)GAA>CAA p.E167Q NRXN1_uc002rxb.3_Missense_Mutation_p.E874Q|NRXN1_uc010fbq.2_Missense_Mutation_p.E1242Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E1202Q NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 167 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCATTGGATTCTTCAATGGCG 0.438 NaN 0 0 0 0.004656 0 27 126 MTIF2 4528 broad.mit.edu 37 2 55464514 55464514 + Missense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:55464514C>A uc002ryn.2 - 16 2658 c.1921G>T c.(1921-1923)GTT>TTT p.V641F MTIF2_uc010yox.1_Missense_Mutation_p.V310F|MTIF2_uc002ryo.2_Missense_Mutation_p.V641F NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 641 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 GCCACAGGAACTTTTTTCTTC 0.373 NaN 1 0 1.08611e-07 0.010729 1.13838e-07 11 49 IMMT 10989 broad.mit.edu 37 2 86389141 86389141 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:86389141C>T uc002sqz.3 - 8 1242 c.854G>A c.(853-855)AGA>AAA p.R285K IMMT_uc002sqy.3_Missense_Mutation_p.R26K|IMMT_uc002srb.3_Missense_Mutation_p.R274K|IMMT_uc002sra.3_Missense_Mutation_p.R284K|IMMT_uc010ytd.1_Missense_Mutation_p.R273K|IMMT_uc010yte.1_Missense_Mutation_p.R238K|IMMT_uc002src.1_Missense_Mutation_p.R26K|IMMT_uc002srd.2_Missense_Mutation_p.R285K|IMMT_uc002sre.3_Missense_Mutation_p.R273K|IMMT_uc010ytf.1_Missense_Mutation_p.R207K|IMMT_uc010fgs.1_Missense_Mutation_p.R282K NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 285 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 TACTGCCTTTCTGCGTTCCTT 0.428 NaN 0 0 0 0.003163 0 12 9 GCC2 9648 broad.mit.edu 37 2 109086467 109086467 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:109086467C>T uc002tec.2 + 6 836 c.682C>T c.(682-684)CAG>TAG p.Q228* GCC2_uc002ted.2_Nonsense_Mutation_p.Q127* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 228 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GGCTAATTCTCAGCATTACCA 0.358 NaN 0 0 0 0.011902 0 48 62 POLR1B 84172 broad.mit.edu 37 2 113315529 113315529 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:113315529G>C uc002thw.2 + 8 1781 c.1201G>C c.(1201-1203)GAT>CAT p.D401H POLR1B_uc010fkn.2_Missense_Mutation_p.D345H|POLR1B_uc002thx.2_Missense_Mutation_p.D262H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.D439H|POLR1B_uc002thy.2_Missense_Mutation_p.D262H|POLR1B_uc010yxo.1_Missense_Mutation_p.D178H NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 401 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 AATAGCTTTTGATAAGAAGGC 0.284 NaN 0 0 0 0.000602 0 5 12 LRP1B 53353 broad.mit.edu 37 2 140995786 140995786 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:140995786C>T uc002tvj.1 - 89 14467 c.13495G>A c.(13495-13497)GAG>AAG p.E4499K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4499 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATCTACCTCATACATGTTA 0.338 NaN TSP Lung(27;0.18) 0 0 0 0.008291 0 11 54 OLA1 29789 broad.mit.edu 37 2 175006600 175006600 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:175006600C>G uc002uih.2 - 5 688 c.502G>C c.(502-504)GAA>CAA p.E168Q OLA1_uc002uii.2_Missense_Mutation_p.E10Q|OLA1_uc010fqq.2_Missense_Mutation_p.E168Q|OLA1_uc002uij.2_Missense_Mutation_p.E10Q|OLA1_uc002uik.2_Missense_Mutation_p.E138Q|OLA1_uc010fqr.2_Missense_Mutation_p.E168Q NM_013341 NP_037473 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 isoform 1 168 E -> Q (in a breast cancer sample; somatic mutation). ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding p.E168Q(1) ovary(1)|breast(1) 2 GCCACCTTTTCTAGTTTATCT 0.328 NaN 0 0 0 0.010504 0 18 48 CIR1 9541 broad.mit.edu 37 2 175213677 175213677 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:175213677C>T uc002uim.2 - 10 994 c.901G>A c.(901-903)GGG>AGG p.G301R CIR1_uc002uin.2_Missense_Mutation_p.G175R|CIR1_uc002uio.2_Missense_Mutation_p.G128R|CIR1_uc002uip.2_Missense_Mutation_p.G190R NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 301 Lys/Ser-rich. 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 TTGTTATGCCCTGAACACttg 0.313 NaN 0 0 0 0.010818 0 33 66 TTN 7273 broad.mit.edu 37 2 179424596 179424596 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:179424596C>T uc010zfg.1 - 275 78783 c.78559G>A c.(78559-78561)GAT>AAT p.D26187N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19882N|TTN_uc010zfi.1_Missense_Mutation_p.D19815N|TTN_uc010zfj.1_Missense_Mutation_p.D19690N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27114 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) CTGTCAATATCAAATAAAGGT 0.433 NaN 0 0 0 0.012213 0 32 63 CERKL 375298 broad.mit.edu 37 2 182438553 182438553 + Missense_Mutation SNP T T A rs149505471 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:182438553T>A uc002unx.2 - 3 641 c.540A>T c.(538-540)AAA>AAT p.K180N CERKL_uc002uny.2_Missense_Mutation_p.K180N|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_Translation_Start_Site|CERKL_uc002uoa.2_Missense_Mutation_p.K180N|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Translation_Start_Site|CERKL_uc002uoe.2_Missense_Mutation_p.K180N NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 180 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGGTAGCTTCTTTTTTGTGAC 0.333 NaN 0 0 0 0.012319 0 19 34 STAT4 6775 broad.mit.edu 37 2 191897696 191897696 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:191897696G>C uc002usm.1 - 21 2286 c.2032C>G c.(2032-2034)CAG>GAG p.Q678E STAT4_uc002usn.1_Missense_Mutation_p.Q678E|STAT4_uc010zgk.1_Missense_Mutation_p.Q523E|STAT4_uc002uso.2_Missense_Mutation_p.Q678E NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 678 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TCGCAAGGCTGAGAGCTGTAG 0.368 NaN 0 0 0 0.010729 0 11 37 FZD7 8324 broad.mit.edu 37 2 202900750 202900750 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:202900750G>C uc002uyw.1 + 1 1441 c.1380G>C c.(1378-1380)AAG>AAC p.K460N NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 460 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 ACGGCACCAAGACCGAGAAGC 0.592 NaN OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 16 35 SPHKAP 80309 broad.mit.edu 37 2 228882308 228882308 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:228882308C>G uc002vpq.2 - 7 3309 c.3262G>C c.(3262-3264)GAG>CAG p.E1088Q SPHKAP_uc002vpp.2_Missense_Mutation_p.E1088Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1088Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1088 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) GAGTCTTCCTCAGGAATGCTT 0.632 NaN 0 0 0 0.013537 0 10 34 FAM110A 83541 broad.mit.edu 37 20 825768 825768 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:825768C>T uc002wef.1 + 2 657 c.321C>T c.(319-321)CTC>CTT p.L107L FAM110A_uc002weg.1_Silent_p.L107L|FAM110A_uc002weh.1_Silent_p.L107L|FAM110A_uc010fzz.2_RNA NM_001042353 NP_001035812 Q9BQ89 F110A_HUMAN hypothetical protein LOC83541 107 microtubule organizing center|spindle pole protein binding 0 TGGACATCCTCAGCAGCCTCA 0.721 NaN 0 0 0 0.010729 0 9 9 SIRPB2 284759 broad.mit.edu 37 20 1456880 1456880 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:1456880C>T uc002wfg.2 - 5 1189 c.961G>A c.(961-963)GAA>AAA p.E321K SIRPB2_uc002wfh.3_Missense_Mutation_p.E223K NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 321 Cytoplasmic (Potential). integral to membrane 0 TTGACATCTTCTTGCCCAGGG 0.597 NaN 0 0 0 0.01441 0 65 139 NOP56 10528 broad.mit.edu 37 20 2635071 2635071 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635071G>C uc002wgh.2 + 4 273 c.220G>C c.(220-222)GAG>CAG p.E74Q NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 74 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 GGTTGTTCATGAGGACCTCCG 0.542 NaN 0 0 0 0.010818 0 31 53 NOP56 10528 broad.mit.edu 37 20 2635517 2635517 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635517G>C uc002wgh.2 + 5 546 c.493G>C c.(493-495)GAC>CAC p.D165H NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 165 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 GAACCGGGTGGACAATATGAT 0.502 NaN 0 0 0 0.01441 0 132 120 TMX4 56255 broad.mit.edu 37 20 7963265 7963265 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:7963265T>A uc002wmx.1 - 8 816 c.683A>T c.(682-684)CAG>CTG p.Q228L NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 228 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 TCTCCGATTCTGCTCTATGGA 0.308 NaN 0 0 0 0.00632 0 27 57 FLRT3 23767 broad.mit.edu 37 20 14307164 14307164 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:14307164C>T uc002wov.1 - 3 1456 c.989G>A c.(988-990)CGT>CAT p.R330H MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R330H NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 330 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CATGAGCCCACGCACGTTGAC 0.473 NaN 0 0 0 0.007835 0 40 124 CST9L 128821 broad.mit.edu 37 20 23549013 23549013 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:23549013C>T uc002wtk.3 - 1 374 c.75G>A c.(73-75)CTG>CTA p.L25L NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 25 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) AGGCATAGATCAGCAGGATCT 0.567 NaN 0 0 0 0.012213 0 33 21 SNTA1 6640 broad.mit.edu 37 20 32000163 32000163 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:32000163G>C uc002wzd.1 - 5 1251 c.979C>G c.(979-981)CTC>GTC p.L327V SNTA1_uc010zuf.1_Intron NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 327 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 GTCTCGGGGAGAGACAAGTAG 0.632 NaN 0 0 0 0.004007 0 13 35 ITCH 83737 broad.mit.edu 37 20 33026353 33026353 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:33026353C>G uc010geu.1 + 9 911 c.719C>G c.(718-720)TCT>TGT p.S240C ITCH_uc002xak.2_Missense_Mutation_p.S199C|ITCH_uc010zuj.1_Missense_Mutation_p.S89C NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 240 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 GGGAATAATTCTCCATCACTC 0.483 NaN 0 0 0 0.01441 0 72 56 RPRD1B 58490 broad.mit.edu 37 20 36662412 36662412 + Silent SNP G G A rs17853182 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:36662412G>A uc002xho.3 + 1 465 c.63G>A c.(61-63)CAG>CAA p.Q21Q KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Regulation of nuclear pre-mRNA domain containing 21 CID. Q -> H (in Ref. 5; AAH33629). pancreas(1) 1 ACTCTCAGCAGAGCGTGCAGA 0.642 NaN 0 0 0 0.01441 0 58 91 ELMO2 63916 broad.mit.edu 37 20 45002118 45002118 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:45002118C>G uc002xrt.1 - 16 1546 c.1336G>C c.(1336-1338)GAA>CAA p.E446Q ELMO2_uc010zxq.1_Missense_Mutation_p.E178Q|ELMO2_uc002xrs.1_Missense_Mutation_p.E193Q|ELMO2_uc002xru.1_Missense_Mutation_p.E446Q|ELMO2_uc010zxr.1_Missense_Mutation_p.E458Q|ELMO2_uc010zxs.1_Missense_Mutation_p.E263Q|ELMO2_uc002xrv.1_Missense_Mutation_p.E165Q|ELMO2_uc002xrw.2_Missense_Mutation_p.E263Q NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 446 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) AAGAGCTCTTCAAAGGCTCGG 0.502 NaN 0 0 0 0.004289 0 39 51 SULF2 55959 broad.mit.edu 37 20 46313304 46313304 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:46313304C>T uc002xto.2 - 6 1089 c.759G>A c.(757-759)GCG>GCA p.A253A SULF2_uc002xtr.2_Silent_p.A253A|SULF2_uc002xtq.2_Silent_p.A253A NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 253 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCGGGTTGGGCGCGTAGTTGT 0.632 NaN 0 0 0 0.00308 0 8 46 SNAI1 6615 broad.mit.edu 37 20 48604577 48604577 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:48604577C>T uc002xuz.2 + 3 849 c.779C>T c.(778-780)TCA>TTA p.S260L NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 260 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TCCGGCTGCTCAGGATGTCCC 0.617 NaN 0 0 0 0.005524 0 37 33 ADAMTS5 11096 broad.mit.edu 37 21 28296403 28296403 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr21:28296403G>C uc002ymg.2 - 8 3491 c.2762C>G c.(2761-2763)GCG>GGG p.A921G NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 921 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTGCTTAAACGCAGAAGGCCT 0.483 NaN 0 0 0 0.004007 0 15 51 GNB1L 54584 broad.mit.edu 37 22 19794230 19794230 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:19794230C>T uc002zqe.1 - 5 862 c.468G>A c.(466-468)CCG>CCA p.P156P GNB1L_uc002zqd.1_Silent_p.P12P|GNB1L_uc002zqf.1_Silent_p.P156P NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 156 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) CATCTGCCTTCGGCTTCAGGG 0.622 NaN 0 0 0 0.003755 0 29 35 RTDR1 27156 broad.mit.edu 37 22 23404081 23404081 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:23404081G>A uc002zwt.2 - 6 854 c.696C>T c.(694-696)GTC>GTT p.V232V NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 232 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GGATGGGGATGACGTCAAAAT 0.562 NaN 0 0 0 0.007835 0 40 29 CABIN1 23523 broad.mit.edu 37 22 24472152 24472152 + Silent SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:24472152C>A uc002zzi.1 + 19 2794 c.2667C>A c.(2665-2667)CTC>CTA p.L889L CABIN1_uc002zzj.1_Silent_p.L839L|CABIN1_uc002zzl.1_Silent_p.L889L NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 889 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CATCCTCCCTCATGCTGCTGA 0.587 NaN 1 0 6.38683e-12 0.008361 6.80336e-12 26 96 HSCB 150274 broad.mit.edu 37 22 29153094 29153094 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:29153094G>C uc003aea.2 + 6 686 c.645G>C c.(643-645)TTG>TTC p.L215F NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor 215 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 AGGAAATTTTGACAAAGATGA 0.318 NaN 0 0 0 0.01441 0 44 98 APOL5 80831 broad.mit.edu 37 22 36122831 36122831 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:36122831G>A uc003aof.2 + 3 716 c.716G>A c.(715-717)GGC>GAC p.G239D NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 239 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GCTATCCAGGGCATCAAGGAT 0.468 NaN 0 0 0 0.009096 0 4 178 TTLL8 164714 broad.mit.edu 37 22 50471761 50471761 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:50471761T>G uc011ark.1 - 10 1153 c.1153A>C c.(1153-1155)ATC>CTC p.I385L NM_001080447 NP_001073916 tubulin tyrosine ligase-like family, member 8 ovary(2) 2 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GTGTCACAGATGAGCAGCGGC 0.562 NaN 0 0 0 0.004482 0 9 5 HRH1 3269 broad.mit.edu 37 3 11301783 11301783 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:11301783G>A uc010hdr.2 + 2 1402 c.1060G>A c.(1060-1062)GAT>AAT p.D354N HRH1_uc010hds.2_Missense_Mutation_p.D354N|HRH1_uc010hdt.2_Missense_Mutation_p.D354N|HRH1_uc003bwb.3_Missense_Mutation_p.D354N NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 354 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GATGTTAGGTGATAGCCAATC 0.527 NaN 0 0 0 0.013726 0 35 49 FGD5 152273 broad.mit.edu 37 3 14922086 14922086 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:14922086G>A uc003bzc.2 + 3 2776 c.2666G>A c.(2665-2667)GGA>GAA p.G889E FGD5_uc011avk.1_Missense_Mutation_p.G889E|FGD5_uc003bzd.2_5'Flank NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 889 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CAGGTGGAAGGACAGTCCAGA 0.527 NaN 0 0 0 0.003163 0 16 22 FGD5 152273 broad.mit.edu 37 3 14964612 14964612 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:14964612G>A uc003bzc.2 + 16 3977 c.3867G>A c.(3865-3867)ATG>ATA p.M1289I FGD5_uc011avk.1_Missense_Mutation_p.M1289I|FGD5_uc003bzd.2_Missense_Mutation_p.M367I NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1289 FYVE-type. M -> T (in Ref. 5; CAE45896). actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 AGGACAGGATGGCCAAGGTCT 0.607 NaN 0 0 0 0.009535 0 31 50 SACM1L 22908 broad.mit.edu 37 3 45773624 45773624 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:45773624G>C uc003cos.2 + 13 1285 c.1081G>C c.(1081-1083)GAA>CAA p.E361Q SACM1L_uc011bag.1_Missense_Mutation_p.E258Q|SACM1L_uc011bah.1_Missense_Mutation_p.E295Q|SACM1L_uc003cot.2_5'Flank NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 361 SAC. Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) TCAGGTAGCAGAAATGCAAGA 0.333 NaN 0 0 0 0.00632 0 29 63 TCTA 6988 broad.mit.edu 37 3 49452277 49452277 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:49452277C>G uc003cwv.3 + 3 515 c.294C>G c.(292-294)CTC>CTG p.L98L RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank NM_022171 NP_071503 P57738 TCTA_HUMAN T-cell leukemia translocation altered 98 Extracellular (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACGAACCTCTCAAAACCCACA 0.522 NaN 0 0 0 0.001984 0 5 23 MST1 4485 broad.mit.edu 37 3 49722087 49722087 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:49722087G>T uc003cxg.2 - 16 1844 c.1772C>A c.(1771-1773)TCT>TAT p.S591Y NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 577 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGGGTCACAGATCTTTAGCA 0.602 NaN 1 0 2.32078e-09 0.003163 2.44556e-09 15 53 CACNA2D2 9254 broad.mit.edu 37 3 50403560 50403560 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:50403560A>G uc003daq.2 - 33 2803 c.2765T>C c.(2764-2766)CTG>CCG p.L922P CACNA2D2_uc003dap.2_Missense_Mutation_p.L915P|CACNA2D2_uc003dao.2_5'Flank NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 922 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGCCAGCATCAGGTTGGCATC 0.567 NaN 0 0 0 0.004672 0 3 92 STAB1 23166 broad.mit.edu 37 3 52547747 52547747 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:52547747G>C uc003dej.2 + 31 3359 c.3285G>C c.(3283-3285)CAG>CAC p.Q1095H NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1095 FAS1 3.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGGGTGCAGAATGCCAGCG 0.597 NaN 0 0 0 0.001168 0 6 17 NT5DC2 64943 broad.mit.edu 37 3 52558714 52558714 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:52558714G>A uc003deo.2 - 14 1759 c.1335C>T c.(1333-1335)TTC>TTT p.F445F NT5DC2_uc003dem.2_Silent_p.F315F|NT5DC2_uc003den.2_Silent_p.F482F|NT5DC2_uc010hmi.2_Silent_p.F457F|NT5DC2_uc010hmj.2_Silent_p.F261F NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 445 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) AGATGCTGCCGAACTGCGCAT 0.627 NaN 0 0 0 0.003163 0 15 38 CGGBP1 8545 broad.mit.edu 37 3 88104763 88104763 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:88104763C>T uc003dqs.2 - 4 876 c.364G>A c.(364-366)GAT>AAT p.D122N CGGBP1_uc003dqt.2_Missense_Mutation_p.D122N|CGGBP1_uc003dqu.2_Missense_Mutation_p.D122N NM_001008390 NP_001008391 Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 122 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) GCTGGGTGATCAGCCTTCTCA 0.488 NaN 0 0 0 0.010504 0 22 54 KIAA1524 57650 broad.mit.edu 37 3 108271090 108271090 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:108271090C>G uc003dxb.3 - 20 2807 c.2538G>C c.(2536-2538)TTG>TTC p.L846F NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 846 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 CCTTAATGCTCAACTCTTTTC 0.313 NaN 0 0 0 0.013537 0 12 26 BOC 91653 broad.mit.edu 37 3 112998700 112998700 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:112998700C>G uc003dzx.2 + 13 2671 c.2050C>G c.(2050-2052)CTG>GTG p.L684V BOC_uc003dzy.2_Missense_Mutation_p.L684V|BOC_uc003dzz.2_Missense_Mutation_p.L685V|BOC_uc003eab.2_Missense_Mutation_p.L385V|BOC_uc003eac.2_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 684 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) AGTCCGGGCTCTGAACATGCT 0.612 NaN 0 0 0 0.01441 0 55 118 PLXND1 23129 broad.mit.edu 37 3 129289674 129289674 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:129289674C>T uc003emx.2 - 19 3805 c.3705G>A c.(3703-3705)TCG>TCA p.S1235S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1235 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 ACTCGTTGACCGAGCAGTGGA 0.622 NaN 0 0 0 0.01441 0 115 159 CEP70 80321 broad.mit.edu 37 3 138219388 138219388 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:138219388G>A uc003esl.2 - 15 1588 c.1390C>T c.(1390-1392)CAA>TAA p.Q464* CEP70_uc011bmk.1_Nonsense_Mutation_p.Q444*|CEP70_uc011bml.1_Nonsense_Mutation_p.Q446*|CEP70_uc011bmm.1_Nonsense_Mutation_p.Q312*|CEP70_uc003esm.2_Nonsense_Mutation_p.Q464* NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 464 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 TGCAAAGTTTGAAAGTGTGGC 0.323 NaN 0 0 0 0.01441 0 116 255 RBP1 5947 broad.mit.edu 37 3 139258320 139258320 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:139258320C>T uc003eti.2 - 1 352 c.241G>A c.(241-243)GAG>AAG p.E81K RBP1_uc011bmx.1_Missense_Mutation_p.E81K|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.E81K NM_002899 NP_002890 P09455 RET1_HUMAN retinol binding protein 1, cellular isoform a 19 cytoplasm retinal binding|retinol binding|transporter activity 0 Vitamin A(DB00162) CGCAGGTACTCCTCGAAATTC 0.677 NaN 0 0 0 0.013537 0 11 8 TNIK 23043 broad.mit.edu 37 3 170945999 170945999 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:170945999G>C uc003fhh.2 - 3 480 c.135C>G c.(133-135)GTC>GTG p.V45V TNIK_uc003fhi.2_Silent_p.V45V|TNIK_uc003fhj.2_Silent_p.V45V|TNIK_uc003fhk.2_Silent_p.V45V|TNIK_uc003fhl.2_Silent_p.V45V|TNIK_uc003fhm.2_Silent_p.V45V|TNIK_uc003fhn.2_Silent_p.V45V|TNIK_uc003fho.2_Silent_p.V45V NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 45 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGCCCGTTTTGACATGACGAC 0.338 NaN 0 0 0 0.01441 0 81 42 MCF2L2 23101 broad.mit.edu 37 3 183014889 183014889 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:183014889G>C uc003fli.1 - 12 1462 c.1372C>G c.(1372-1374)CGA>GGA p.R458G MCF2L2_uc003flj.1_Missense_Mutation_p.R458G|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 458 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) ACCCCTTCTCGAGACTGGCAC 0.517 NaN 0 0 0 0.006214 0 8 90 EIF2B5 8893 broad.mit.edu 37 3 183858320 183858320 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:183858320C>T uc003fmp.2 + 7 1322 c.958C>T c.(958-960)CCT>TCT p.P320S EIF2B5_uc003fmq.2_Missense_Mutation_p.P41S|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 320 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGGTCTACCCTCTCACCCC 0.577 NaN 0 0 0 0.01441 0 93 129 LSG1 55341 broad.mit.edu 37 3 194392818 194392818 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:194392818C>T uc003fui.2 - 1 389 c.74G>A c.(73-75)CGA>CAA p.R25Q NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 25 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ACGATGGCTTCGGCTCCGCTG 0.567 NaN 0 0 0 0.007291 0 27 47 PACRGL 133015 broad.mit.edu 37 4 20715142 20715142 + Silent SNP C C T rs139070230 byFrequency TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:20715142C>T uc010iek.2 + 7 980 c.589C>T c.(589-591)CTG>TTG p.L197L PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.L245L|PACRGL_uc003gpz.2_Silent_p.L197L|PACRGL_uc011bxm.1_Silent_p.L144L|PACRGL_uc003gqa.2_Silent_p.L99L|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.L197L|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Silent_p.L99L|PACRGL_uc003gpy.2_Silent_p.L144L NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 197 binding 0 AAACGACCATCTGAAGCATCT 0.388 NaN 0 0 0 0.008871 0 21 39 SEPSECS 51091 broad.mit.edu 37 4 25160685 25160685 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:25160685G>C uc003grg.2 - 2 372 c.159C>G c.(157-159)CTC>CTG p.L53L uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Silent_p.L52L|SEPSECS_uc003grh.2_Intron NM_153825 NP_722547 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) 53 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding 0 Breast(46;0.173) Pyridoxal Phosphate(DB00114) CATGTAAAAAGAGTTCAAGTG 0.383 NaN 0 0 0 0.007291 0 27 64 FRAS1 80144 broad.mit.edu 37 4 79360104 79360104 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:79360104C>G uc003hlb.2 + 40 5855 c.5415C>G c.(5413-5415)TTC>TTG p.F1805L FRAS1_uc003hkw.2_Missense_Mutation_p.F1805L|FRAS1_uc010ijj.1_Missense_Mutation_p.F225L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1804 CSPG 6.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTGATAGCTTCTATTTCTCTG 0.388 NaN 0 0 0 0.00278 0 23 91 PPP3CA 5530 broad.mit.edu 37 4 101984485 101984485 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:101984485T>C uc011cen.1 - 9 1660 c.985A>G c.(985-987)ATG>GTG p.M329V PPP3CA_uc003hvu.2_Missense_Mutation_p.M329V|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.M316V|PPP3CA_uc003hvs.2_Missense_Mutation_p.M262V|PPP3CA_uc010ilk.2_Missense_Mutation_p.M97V NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 329 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CTGATATTCATAACATTGTTC 0.363 NaN 0 0 0 0.006214 0 10 10 FAT4 79633 broad.mit.edu 37 4 126241535 126241535 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:126241535T>A uc003ifj.3 + 1 3969 c.3969T>A c.(3967-3969)GAT>GAA p.D1323E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1323 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTTTGTTGATGTTTTGGAAA 0.368 NaN 0 0 0 0.007413 0 19 41 PCDH10 57575 broad.mit.edu 37 4 134072451 134072451 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:134072451G>C uc003iha.2 + 1 1982 c.1156G>C c.(1156-1158)GAC>CAC p.D386H uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D386H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 386 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GACTGACCGCGACTCAGAGGA 0.587 NaN 0 0 0 0.00632 0 29 70 MAML3 55534 broad.mit.edu 37 4 140651796 140651796 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:140651796C>T uc003ihz.1 - 4 2845 c.2093G>A c.(2092-2094)CGA>CAA p.R698Q MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R165Q NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 698 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) GCCTGTGGTTCGGGGAAGTCC 0.632 NaN 0 0 0 0.000602 0 4 12 RAPGEF2 9693 broad.mit.edu 37 4 160244690 160244690 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:160244690G>A uc003iqg.3 + 5 897 c.587G>A c.(586-588)GGA>GAA p.G196E NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 196 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) CTGTGCATGGGAAATAGTTTT 0.378 NaN 0 0 0 0.013537 0 12 30 CCT5 22948 broad.mit.edu 37 5 10254942 10254942 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:10254942G>A uc003jeq.2 + 3 494 c.323G>A c.(322-324)GGA>GAA p.G108E CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.G108E|CCT5_uc010its.2_Missense_Mutation_p.G108E|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.G70E|CCT5_uc011cmt.1_Intron NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 108 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 GGAACCACAGGAGTGGTTGGT 0.418 NaN 0 0 0 0.010818 0 31 29 TRIO 7204 broad.mit.edu 37 5 14497101 14497101 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:14497101G>A uc003jff.2 + 50 8000 c.7994G>A c.(7993-7995)GGA>GAA p.G2665E TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2665 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCACGGGAAGGACTCAGCAAC 0.493 NaN 0 0 0 0.008291 0 11 45 CDH6 1004 broad.mit.edu 37 5 31317518 31317518 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:31317518C>G uc003jhe.1 + 10 1875 c.1549C>G c.(1549-1551)CCT>GCT p.P517A CDH6_uc003jhd.1_Missense_Mutation_p.P517A NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 517 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CAAGGATGACCCTTATAGTGG 0.398 NaN 0 0 0 0.009096 0 4 110 RPL37 6167 broad.mit.edu 37 5 40834293 40834293 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:40834293G>A uc003jme.1 - 3 314 c.214C>T c.(214-216)CGC>TGC p.R72C SNORD72_uc003jmf.1_5'Flank NM_000997 NP_000988 P61927 RL37_HUMAN ribosomal protein L37 72 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit metal ion binding|protein binding|rRNA binding|structural constituent of ribosome 0 Breast(839;0.238) CTGAATCTGCGGTATACAATT 0.398 NaN 0 0 0 0.013537 0 12 71 HEATR7B2 133558 broad.mit.edu 37 5 41057463 41057463 + Splice_Site SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:41057463C>G uc003jmj.3 - 8 1247 c.757_splice c.e8-1 p.S253_splice HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 binding ovary(6)|central_nervous_system(2) 8 GTTTTAGGCTCTAAAGTGGAA 0.433 NaN 0 0 0 0.000602 0 5 1 MAST4 375449 broad.mit.edu 37 5 66449324 66449324 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:66449324G>A uc003jut.1 + 25 3065 c.2997G>A c.(2995-2997)CTG>CTA p.L999L MAST4_uc003juw.2_Silent_p.L927L NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1191 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGGCAGGACTGAAGGCTGGAG 0.428 NaN 0 0 0 0.001168 0 5 8 PIK3R1 5295 broad.mit.edu 37 5 67576548 67576548 + Nonsense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:67576548C>G uc003jva.2 + 6 1387 c.827C>G c.(826-828)TCA>TGA p.S276* PIK3R1_uc003jvb.2_Nonsense_Mutation_p.S276* NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 276 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCAGATTCTCAGCAGCCAGG 0.383 NaN Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 0 0 0 0.008291 0 11 31 GPR98 84059 broad.mit.edu 37 5 90074805 90074805 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:90074805G>C uc003kju.2 + 64 13069 c.12973G>C c.(12973-12975)GAA>CAA p.E4325Q GPR98_uc003kjt.2_Missense_Mutation_p.E2031Q|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4325 Extracellular (Potential).|Calx-beta 29. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCCTCTTTGAAGCAGGGGA 0.488 NaN 0 0 0 0.005443 0 28 61 VDAC1 7416 broad.mit.edu 37 5 133326753 133326753 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:133326753C>T uc003kyp.1 - 4 309 c.210G>A c.(208-210)ACG>ACA p.T70T VDAC1_uc003kyq.1_Silent_p.T70T|VDAC1_uc003kyr.1_Silent_p.T70T NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 70 Beta stranded. apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) TCTCTGTAAACGTCAGGCCGT 0.458 NaN 0 0 0 0.010729 0 12 80 CXCL14 9547 broad.mit.edu 37 5 134910273 134910273 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:134910273G>A uc003lay.2 - 3 774 c.309C>T c.(307-309)AAC>AAT p.N103N NM_004887 NP_004878 O95715 CXL14_HUMAN small inducible cytokine B14 precursor 103 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCGCTTCTCGTTCCAGGCGT 0.493 NaN 0 0 0 0.006214 0 9 20 PCDHGA2 56113 broad.mit.edu 37 5 140718701 140718701 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:140718701G>C uc003ljk.1 + 1 348 c.163G>C c.(163-165)GAG>CAG p.E55Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E55Q NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 55 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGGTTTGGAGCCCCTGGC 0.617 NaN OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 19 42 PCDHGA8 9708 broad.mit.edu 37 5 140774463 140774463 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:140774463G>A uc003lkd.1 + 1 2981 c.2083G>A c.(2083-2085)GTG>ATG p.V695M 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_uc003lkb.3_Missense_Mutation_p.V695M NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 695 Helical; (Potential). 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) CTATCTCGTGGTGGCAGTGGC 0.607 NaN 0 0 0 0.006214 0 7 22 PCDH12 51294 broad.mit.edu 37 5 141336156 141336156 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:141336156C>T uc003llx.2 - 1 2472 c.1261G>A c.(1261-1263)GAG>AAG p.E421K NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 421 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCACTGCTCTCTGTCCAGT 0.498 NaN 0 0 0 0.005524 0 38 78 TIMD4 91937 broad.mit.edu 37 5 156381553 156381553 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:156381553C>T uc003lwh.2 - 2 330 c.273G>A c.(271-273)CCG>CCA p.P91P TIMD4_uc010jii.2_Silent_p.P91P NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 91 Ig-like V-type.|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) CATCACCTCTCGGGATAGTCC 0.517 NaN 0 0 0 0.008871 0 20 39 CYFIP2 26999 broad.mit.edu 37 5 156788517 156788517 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:156788517G>A uc003lwq.2 + 28 3088 c.2950G>A c.(2950-2952)GAG>AAG p.E984K CYFIP2_uc011ddn.1_Missense_Mutation_p.E958K|CYFIP2_uc011ddo.1_Missense_Mutation_p.E788K|CYFIP2_uc003lwr.2_Missense_Mutation_p.E984K|CYFIP2_uc003lws.2_Missense_Mutation_p.E984K|CYFIP2_uc003lwt.2_Missense_Mutation_p.E887K|CYFIP2_uc011ddp.1_Missense_Mutation_p.E718K NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1009 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGACATCATTGAGTACGCAGA 0.542 NaN 0 0 0 0.013537 0 11 19 EIF4E1B 253314 broad.mit.edu 37 5 176070159 176070159 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:176070159C>T uc010jkf.1 + 4 676 c.92C>T c.(91-93)ACA>ATA p.T31I NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 31 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGACGCCCACAGGAGAAAAG 0.498 NaN 0 0 0 0.008871 0 19 26 CNOT6 57472 broad.mit.edu 37 5 180000991 180000991 + Missense_Mutation SNP A A C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:180000991A>C uc003mlx.2 + 12 1814 c.1465A>C c.(1465-1467)ATA>CTA p.I489L CNOT6_uc010jld.2_Missense_Mutation_p.I489L|CNOT6_uc010jle.2_Missense_Mutation_p.I484L NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 489 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTTTCAGGGTATAATAGACTA 0.418 NaN 0 0 0 0.003163 0 15 33 GMDS 2762 broad.mit.edu 37 6 1726704 1726704 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1726704C>G uc003mtq.2 - 9 1123 c.933G>C c.(931-933)GAG>GAC p.E311D NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 311 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTTTGCCGGTCTCTTTACATC 0.493 NaN 0 0 0 0.014323 0 19 95 GMDS 2762 broad.mit.edu 37 6 1726724 1726724 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1726724C>T uc003mtq.2 - 9 1103 c.913G>A c.(913-915)GAA>AAA p.E305K NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 305 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTGCCCACTTCATTTTCATTC 0.493 NaN 0 0 0 0.006122 0 18 90 DSP 1832 broad.mit.edu 37 6 7584100 7584100 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:7584100C>T uc003mxp.1 + 24 6884 c.6605C>T c.(6604-6606)TCA>TTA p.S2202L DSP_uc003mxq.1_Missense_Mutation_p.S1603L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2202 Plectin 6.|Globular 2. 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) CTCTTGCTTTCAGTACAGAAG 0.458 NaN 0 0 0 0.006999 0 38 52 HIST1H3B 8358 broad.mit.edu 37 6 26031997 26031997 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26031997C>T uc003nfs.1 - 1 292 c.292G>A c.(292-294)GAG>AAG p.E98K NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 AAGTAGGCCTCACAAGCCTCC 0.567 NaN 0 0 0 0.008871 0 21 65 HIST1H1C 3006 broad.mit.edu 37 6 26056393 26056393 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26056393C>T uc003nfw.2 - 1 307 c.264G>A c.(262-264)GTG>GTA p.V88V NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 88 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TGCCCTTGCTCACCAGGCTCT 0.532 NaN 0 0 0 0.013726 0 34 129 BTN1A1 696 broad.mit.edu 37 6 26501534 26501534 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26501534C>G uc003nif.3 + 1 40 c.20C>G c.(19-21)TCC>TGC p.S7C NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 7 extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TTCCCAAGCTCCGGTCTCCCC 0.522 NaN 0 0 0 0.010771 0 40 55 HSPA1A 3303 broad.mit.edu 37 6 31783561 31783561 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:31783561G>A uc003nxj.2 + 1 271 c.28G>A c.(28-30)GAC>AAC p.D10N HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Missense_Mutation_p.D10N|HSPA1A_uc003nxi.1_Missense_Mutation_p.D10N|uc011dok.1_RNA NM_005345 NP_005336 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 10 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding ovary(1) 1 GATCGGCATCGACCTGGGCAC 0.647 NaN 0 0 0 0.01441 0 40 34 HLA-DQA1 3117 broad.mit.edu 37 6 32609935 32609935 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:32609935A>G uc003obr.2 + 3 571 c.518A>G c.(517-519)AAG>AGG p.K173R HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Missense_Mutation_p.K173R|HLA-DQA1_uc003obu.2_5'Flank NM_002122 NP_002113 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ 172 Ig-like C1-type.|Alpha-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 TCCTTCTTCAAGATCAGTTAC 0.512 NaN 0 0 0 0.012319 0 18 67 HLA-DQA2 3118 broad.mit.edu 37 6 32713754 32713754 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:32713754A>G uc003obx.2 + 3 576 c.518A>G c.(517-519)AAG>AGG p.K173R NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 173 Alpha-2.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCTTCTTCAAGATCAGTTAC 0.517 NaN 0 0 0 0.007291 0 26 182 ZBTB9 221504 broad.mit.edu 37 6 33423781 33423781 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:33423781C>T uc003oeq.2 + 2 1172 c.904C>T c.(904-906)CAG>TAG p.Q302* NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 302 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGCGGAACTCAGCCTGGAGG 0.547 NaN 0 0 0 0.003954 0 26 61 CCND3 896 broad.mit.edu 37 6 41908144 41908144 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:41908144G>C uc003orn.2 - 2 543 c.378C>G c.(376-378)ATC>ATG p.I126M CCND3_uc003orp.2_Missense_Mutation_p.I45M|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Missense_Mutation_p.I45M|CCND3_uc003orm.2_Missense_Mutation_p.I76M|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron NM_001760 NP_001751 P30281 CCND3_HUMAN cyclin D3 isoform 2 126 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGTCGGTGTAGATGCACAGTT 0.617 NaN T IGH@ MM 0 0 0 0.00632 0 27 78 BEND6 221336 broad.mit.edu 37 6 56880031 56880031 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:56880031G>A uc010kab.2 + 4 985 c.399G>A c.(397-399)TGG>TGA p.W133* BEND6_uc003pdi.3_Nonsense_Mutation_p.W35* NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 133 0 CCACCCTCTGGAGAGCAACAA 0.478 NaN 0 0 0 0.007291 0 31 49 OGFRL1 79627 broad.mit.edu 37 6 72011597 72011597 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:72011597G>C uc003pfx.1 + 7 1364 c.1201G>C c.(1201-1203)GAG>CAG p.E401Q NM_024576 NP_078852 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 401 membrane receptor activity 0 CAGTAATGCTGAGAACATGAA 0.458 NaN 0 0 0 0.007291 0 28 42 HACE1 57531 broad.mit.edu 37 6 105198288 105198288 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:105198288G>C uc003pqu.1 - 20 2548 c.2271C>G c.(2269-2271)ATC>ATG p.I757M HACE1_uc010kcy.1_Missense_Mutation_p.I239M|HACE1_uc010kcz.1_Missense_Mutation_p.I542M|HACE1_uc010kcx.1_Missense_Mutation_p.I166M|HACE1_uc003pqt.1_Missense_Mutation_p.I410M NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 757 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AAAAAGCATTGATCTGAGGCT 0.383 NaN 0 0 0 0.000602 0 4 18 UTRN 7402 broad.mit.edu 37 6 144860468 144860468 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:144860468C>G uc003qkt.2 + 44 6500 c.6408C>G c.(6406-6408)CTC>CTG p.L2136L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2136 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGAAAAACTCAAATGGCTGA 0.348 NaN 0 0 0 0.013537 0 13 32 KATNA1 11104 broad.mit.edu 37 6 149959681 149959681 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:149959681C>G uc003qmr.1 - 1 48 c.3G>C c.(1-3)ATG>ATC p.M1I KATNA1_uc003qms.2_Missense_Mutation_p.M1I|KATNA1_uc003qmt.2_Missense_Mutation_p.M1I|KATNA1_uc011eed.1_Missense_Mutation_p.M1I NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 1 Interaction with microtubule.|Interaction with KATNB1. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) TAAGAAGACTCATGTTCAACT 0.333 NaN 0 0 0 0.005443 0 27 124 NUP43 348995 broad.mit.edu 37 6 150048189 150048189 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:150048189C>T uc003qmz.2 - 8 1116 c.1059G>A c.(1057-1059)GTG>GTA p.V353V NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Silent_p.V257V NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 353 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CCAAAGTGTTCACAGACAGAG 0.398 NaN 0 0 0 0.00333 0 23 21 C7orf28B 221960 broad.mit.edu 37 7 6840699 6840699 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:6840699C>T uc003sqx.1 - 14 1306 c.1273G>A c.(1273-1275)GAA>AAA p.E425K C7orf28B_uc011jxd.1_Missense_Mutation_p.E282K NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 425 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) TCCTCATCTTCATCCACTCTG 0.438 NaN 0 0 0 0.004878 0 20 82 RPA3 6119 broad.mit.edu 37 7 7678736 7678736 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:7678736C>T uc003sri.2 - 6 1311 c.139G>A c.(139-141)GAA>AAA p.E47K RPA3_uc003srh.2_Missense_Mutation_p.E8K NM_002947 NP_002938 P35244 RFA3_HUMAN replication protein A3, 14kDa 47 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding large_intestine(1) 1 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) TTTTTTCCTTCTCCATCTGAA 0.299 NaN Direct_reversal_of_damage|NER 0 0 0 0.004482 0 7 39 RPA3 6119 broad.mit.edu 37 7 7678739 7678739 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:7678739C>A uc003sri.2 - 6 1308 c.136G>T c.(136-138)GGA>TGA p.G46* RPA3_uc003srh.2_Nonsense_Mutation_p.G7* NM_002947 NP_002938 P35244 RFA3_HUMAN replication protein A3, 14kDa 46 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding large_intestine(1) 1 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) TTTCCTTCTCCATCTGAAAGA 0.299 NaN Direct_reversal_of_damage|NER 1 0 1.06961e-07 0.00308 1.1241e-07 6 39 C7orf30 115416 broad.mit.edu 37 7 23347497 23347497 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:23347497T>C uc003swd.1 + 3 478 c.446T>C c.(445-447)CTG>CCG p.L149P C7orf30_uc003swe.2_5'Flank NM_138446 NP_612455 Q96EH3 CG030_HUMAN hypothetical protein LOC115416 149 mitochondrion 0 GBM - Glioblastoma multiforme(13;0.154) TACAAACACCTGAAATGTAAA 0.418 NaN 0 0 0 0.004672 0 3 79 AVL9 23080 broad.mit.edu 37 7 32598734 32598734 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:32598734G>A uc003tcv.1 + 10 1019 c.873G>A c.(871-873)ATG>ATA p.M291I AVL9_uc011kai.1_Missense_Mutation_p.M291I|AVL9_uc010kwj.1_Missense_Mutation_p.M132I NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 291 integral to membrane 0 ATGCTGCCATGAAGACTGAGG 0.463 NaN 0 0 0 0.010729 0 10 18 RP9 6100 broad.mit.edu 37 7 33136118 33136118 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:33136118C>G uc003tdm.2 - 5 472 c.454G>C c.(454-456)GAA>CAA p.E152Q NM_203288 NP_976033 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 152 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding 0 GBM - Glioblastoma multiforme(11;0.0403) ACGTCCTTTTCATGTCGTTTA 0.383 NaN 0 0 0 0.013537 0 11 41 ABCA13 154664 broad.mit.edu 37 7 48318168 48318168 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:48318168T>C uc003toq.2 + 18 7402 c.7377T>C c.(7375-7377)TTT>TTC p.F2459F ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2459 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGCTTTTCTTTATAAATAATT 0.343 NaN 0 0 0 0.01441 0 48 79 POM121L12 285877 broad.mit.edu 37 7 53103750 53103750 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:53103750A>G uc003tpz.2 + 1 402 c.386A>G c.(385-387)AAC>AGC p.N129S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 129 0 CGTGCCTGGAACCCAGGACGG 0.642 NaN 0 0 0 0.00333 0 20 33 ZNF479 90827 broad.mit.edu 37 7 57188660 57188660 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:57188660G>A uc010kzo.2 - 5 733 c.462C>T c.(460-462)AAC>AAT p.N154N NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GAAATATTTTGTTTTGGGTAG 0.289 NaN 0 0 0 0.003954 0 21 49 WBSCR28 135886 broad.mit.edu 37 7 73275587 73275587 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:73275587C>G uc003tzk.2 + 1 99 c.63C>G c.(61-63)CTC>CTG p.L21L RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 21 integral to membrane breast(1) 1 Lung NSC(55;0.159) TTACGAGGCTCTCAGTGCTGG 0.642 NaN 0 0 0 0.010729 0 12 20 HGF 3082 broad.mit.edu 37 7 81355231 81355231 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:81355231T>C uc003uhl.2 - 9 1308 c.1143A>G c.(1141-1143)CCA>CCG p.P381P HGF_uc003uhm.2_Silent_p.P376P NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 381 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TATCACAGTTTGGAATTTGGG 0.448 NaN 0 0 0 0.00245 0 14 79 CROT 54677 broad.mit.edu 37 7 86988563 86988563 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:86988563G>A uc003uit.2 + 4 402 c.157G>A c.(157-159)GAA>AAA p.E53K CROT_uc003uis.3_Missense_Mutation_p.E53K|CROT_uc003uiu.2_Missense_Mutation_p.E81K NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 53 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAAAACTGAAGAAATAGTTCA 0.308 NaN 0 0 0 0.00308 0 8 41 AKAP9 10142 broad.mit.edu 37 7 91631551 91631551 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:91631551G>A uc003ulg.2 + 8 2545 c.2320G>A c.(2320-2322)GAA>AAA p.E774K AKAP9_uc003ule.2_Missense_Mutation_p.E786K|AKAP9_uc003ulf.2_Missense_Mutation_p.E774K|AKAP9_uc003uli.2_Missense_Mutation_p.E399K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 786 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCACAACTTGAAGCAGAGAA 0.303 NaN T BRAF papillary thyroid 0 0 0 0.013537 0 12 68 CYP3A7 1551 broad.mit.edu 37 7 99312307 99312307 + Splice_Site SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:99312307T>C uc003uru.2 - 8 776 c.671_splice c.e8-1 p.K224_splice ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GAAAGACTTCTGTAGAAAAAA 0.303 NaN 0 0 0 0.003954 0 25 54 GIGYF1 64599 broad.mit.edu 37 7 100285422 100285422 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:100285422C>T uc003uwg.1 - 3 1259 c.250G>A c.(250-252)GAG>AAG p.E84K NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 84 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGTTCCTCCTCAGTCAGCGGC 0.687 NaN 0 0 0 0.005443 0 23 62 RELN 5649 broad.mit.edu 37 7 103194142 103194142 + Missense_Mutation SNP G G C rs141509094 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:103194142G>C uc003vca.2 - 39 6094 c.5934C>G c.(5932-5934)ATC>ATG p.I1978M RELN_uc010liz.2_Missense_Mutation_p.I1978M NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1978 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATAAAGACCGATGTTACCAC 0.363 NaN 0 0 0 0.003163 0 14 24 PTN 5764 broad.mit.edu 37 7 136935980 136935980 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:136935980G>A uc003vtq.2 - 4 811 c.448C>T c.(448-450)CAA>TAA p.Q150* PTN_uc010lmx.2_Nonsense_Mutation_p.Q150*|PTN_uc003vtr.1_Nonsense_Mutation_p.Q150* NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 150 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 GACTTACCTTGAGGTTTGGGC 0.458 NaN 0 0 0 0.01441 0 45 125 DENND2A 27147 broad.mit.edu 37 7 140301532 140301532 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:140301532C>T uc010lnj.2 - 1 811 c.666G>A c.(664-666)CTG>CTA p.L222L DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.L222L|DENND2A_uc003vvw.2_Silent_p.L222L|DENND2A_uc003vvx.2_Silent_p.L222L NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 222 ovary(3)|breast(1) 4 Melanoma(164;0.00956) CCCTGCCTTCCAGGTCCGAGG 0.637 NaN 0 0 0 0.01441 0 50 130 SSPO 23145 broad.mit.edu 37 7 149476138 149476138 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:149476138G>C uc010lpk.2 + 8 1016 c.1016G>C c.(1015-1017)GGA>GCA p.G339A SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 339 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGCCAGGCGGAGGGCTGGCC 0.637 NaN 0 0 0 0.013537 0 12 23 RP1L1 94137 broad.mit.edu 37 8 10466760 10466760 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:10466760G>A uc003wtc.2 - 4 5077 c.4848C>T c.(4846-4848)CTC>CTT p.L1616L NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1616 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGAAGGCCGAGAGGTTTCGCA 0.706 NaN 0 0 0 0.001855 0 13 12 PCM1 5108 broad.mit.edu 37 8 17813004 17813004 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:17813004G>C uc003wyi.3 + 10 1736 c.1314G>C c.(1312-1314)CAG>CAC p.Q438H PCM1_uc011kyh.1_Missense_Mutation_p.Q438H|PCM1_uc003wyj.3_Missense_Mutation_p.Q438H|PCM1_uc003wyh.2_Missense_Mutation_p.Q477H|PCM1_uc010lta.1_Missense_Mutation_p.Q477H NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 438 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) GTGTCGATCAGAGAAGTACTT 0.433 NaN T RET|JAK2 papillary thyroid|CML|MPD 0 0 0 0.001168 0 6 6 TRPA1 8989 broad.mit.edu 37 8 72987642 72987642 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:72987642C>T uc003xza.2 - 1 178 c.3G>A c.(1-3)ATG>ATA p.M1I NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GGCTGCGCTTCATTGACCCCA 0.657 NaN 0 0 0 0.01441 0 49 54 COL14A1 7373 broad.mit.edu 37 8 121170472 121170472 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:121170472G>A uc003yox.2 + 3 457 c.192G>A c.(190-192)GTG>GTA p.V64V NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 64 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACTTCTTGTGACTCCAACTT 0.368 NaN 0 0 0 0.004482 0 8 42 FER1L6 654463 broad.mit.edu 37 8 125035748 125035748 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:125035748C>T uc003yqw.2 + 18 2404 c.2198C>T c.(2197-2199)GCC>GTC p.A733V uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 733 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GTGGCCTATGCCCGCATCGCC 0.527 NaN 0 0 0 0.001168 0 4 100 TG 7038 broad.mit.edu 37 8 134145801 134145801 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:134145801G>C uc003ytw.2 + 47 8126 c.8085G>C c.(8083-8085)GAG>GAC p.E2695D TG_uc010mdw.2_Missense_Mutation_p.E1454D|TG_uc011ljb.1_Missense_Mutation_p.E1064D|TG_uc011ljc.1_Missense_Mutation_p.E828D NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2695 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGGTGGAGAGAACTACAAGG 0.522 NaN 0 0 0 0.003755 0 37 54 SLC45A4 57210 broad.mit.edu 37 8 142228412 142228412 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:142228412C>T uc003ywd.1 - 4 1482 c.1174G>A c.(1174-1176)GCC>ACC p.A392T SLC45A4_uc003ywc.1_Missense_Mutation_p.A392T|SLC45A4_uc010meq.1_Missense_Mutation_p.A390T NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 443 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ACGGCGTTGGCGCGCCGGTAG 0.692 NaN 0 0 0 0.000602 0 5 68 BAI1 575 broad.mit.edu 37 8 143603352 143603352 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:143603352C>T uc003ywm.2 + 20 3234 c.3051C>T c.(3049-3051)TTC>TTT p.F1017F NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1017 Helical; Name=3; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCCGCCTTCCTGCACTTCT 0.687 NaN 0 0 0 0.004672 0 3 14 ZNF251 90987 broad.mit.edu 37 8 145947781 145947781 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:145947781C>T uc003zdv.3 - 5 1520 c.1264G>A c.(1264-1266)GAA>AAA p.E422K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 422 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CTTACGTGTTCAGTAAGATGA 0.448 NaN 0 0 0 0.01441 0 58 68 DOCK8 81704 broad.mit.edu 37 9 463637 463637 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:463637G>A uc003zgf.2 + 47 6301 c.6189G>A c.(6187-6189)CGG>CGA p.R2063R DOCK8_uc010mgu.2_Silent_p.R1365R|DOCK8_uc010mgv.2_Silent_p.R1963R|DOCK8_uc003zgk.2_Silent_p.R1521R NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2063 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGATCGAGCGGAAAATTCCAG 0.458 NaN 0 0 0 0.010729 0 5 61 RANBP6 26953 broad.mit.edu 37 9 6015339 6015339 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:6015339G>C uc003zjr.2 - 1 280 c.269C>G c.(268-270)CCT>CGT p.P90R RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 90 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AACATCAGCAGGCAGATTTGG 0.433 NaN 0 0 0 0.00874 0 41 97 DENND4C 55667 broad.mit.edu 37 9 19324474 19324474 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:19324474G>A uc003znq.2 + 9 1247 c.1214G>A c.(1213-1215)GGA>GAA p.G405E DENND4C_uc011lnc.1_Intron NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 405 integral to membrane ovary(1)|skin(1) 2 AAAGATACTGGATTAGCATTT 0.303 NaN 0 0 0 0.01441 0 83 251 FOXB2 442425 broad.mit.edu 37 9 79634833 79634833 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:79634833C>T uc004ako.1 + 1 263 c.263C>T c.(262-264)GCG>GTG p.A88V NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 88 Fork-head. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 AGCTTCTGGGCGCTGCACCCC 0.642 NaN 0 0 0 0.01441 0 55 14 PTCH1 5727 broad.mit.edu 37 9 98229643 98229643 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:98229643C>T uc004avk.3 - 15 2503 c.2315G>A c.(2314-2316)AGA>AAA p.R772K PTCH1_uc010mro.2_Missense_Mutation_p.R621K|PTCH1_uc010mrp.2_Missense_Mutation_p.R621K|PTCH1_uc010mrq.2_Missense_Mutation_p.R621K|PTCH1_uc004avl.3_Missense_Mutation_p.R621K|PTCH1_uc010mrr.2_Missense_Mutation_p.R706K|PTCH1_uc004avm.3_Missense_Mutation_p.R771K NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 772 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CAGCCCGTCTCTCACTCGGGT 0.478 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.011902 0 43 16 RXRA 6256 broad.mit.edu 37 9 137293649 137293649 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 T C T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:137293649T>C uc004cfb.2 + 2 362 c.200T>C c.(199-201)GTC>GCC p.V67A RXRA_uc004cfa.1_Silent_p.G117G NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 67 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCTTTCTCGGTCATCAGCTCC 0.642 NaN 0 0 0 0.004672 0 3 117 STS 412 broad.mit.edu 37 X 7268123 7268123 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:7268123G>A uc004cry.3 + 10 1818 c.1573G>A c.(1573-1575)GAA>AAA p.E525K NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 525 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CCGGTTTTATGAAATCCTCAA 0.498 NaN Ichthyosis 0 0 0 0.003163 0 15 10 TAB3 257397 broad.mit.edu 37 X 30873150 30873150 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:30873150C>G uc004dcj.2 - 6 1295 c.632G>C c.(631-633)AGA>ACA p.R211T TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 211 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 TTGTAAAGCTCTTGGTACAGT 0.423 NaN 0 0 0 0.006122 0 18 13 ZMYM3 9203 broad.mit.edu 37 X 70472591 70472591 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:70472591G>A uc004dzh.1 - 2 602 c.515C>T c.(514-516)TCC>TTC p.S172F BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.S172F|ZMYM3_uc004dzj.1_Missense_Mutation_p.S172F|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzl.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzm.3_Missense_Mutation_p.S172F NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 172 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CTGCCCAGGGGAGCCCCTTCT 0.577 NaN 0 0 0 0.00632 0 25 7 NONO 4841 broad.mit.edu 37 X 70514379 70514379 + Splice_Site SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:70514379G>A uc004dzo.2 + 6 1360 c.650_splice c.e6+1 p.T217_splice BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Splice_Site_p.T217_splice|NONO_uc004dzp.2_Splice_Site_p.T217_splice|NONO_uc011mpv.1_Splice_Site_p.T128_splice|NONO_uc004dzq.2_Splice_Site_p.T86_splice NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) TGCTAACCACGTAAGTGAGGG 0.473 NaN T TFE3 papillary renal cancer 0 0 0 0.004482 0 9 1 SYNC 81493 broad.mit.edu 37 1 33149943 33149943 + Frame_Shift_Del DEL C C - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33149943delC uc001bvt.2 - 3 1374 c.1274delG c.(1273-1275)AGAfs p.R425fs SYNC_uc010ohl.1_Frame_Shift_Del_p.R425fs|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR NM_030786 NP_110413 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament 1 isoform 1 425 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity ovary(1) 1 CACCCCATTTCTTAACTGCCT 0.443 NaN NaN NaN NaN NaN NaN 33 112 --- --- MLL2 8085 broad.mit.edu 37 12 49445896 49445896 + Frame_Shift_Del DEL C C - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:49445896delC uc001rta.3 - 10 1570 c.1570delG c.(1570-1572)GAAfs p.E524fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 524 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|6. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGTGACTCTTCCGGTGGAGAC 0.597 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 17 55 --- --- RBL2 5934 broad.mit.edu 37 16 53488655 53488655 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:53488655delG uc002ehi.3 + 8 1198 c.1080delG c.(1078-1080)GAGfs p.E360fs RBL2_uc010vgv.1_Frame_Shift_Del_p.E286fs|RBL2_uc002ehj.2_Frame_Shift_Del_p.E70fs|RBL2_uc010vgw.1_Frame_Shift_Del_p.E144fs NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 360 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 ATGCTGAGGAGGAAATTGGGA 0.428 NaN NaN NaN NaN NaN NaN 29 31 --- --- SMYD4 114826 broad.mit.edu 37 17 1704320 1704321 + Splice_Site INS - - C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:1704320_1704321insC uc002ftm.3 - 5 538 c.370_splice c.e5-1 p.T124_splice SMYD4_uc002ftn.1_Splice_Site NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 zinc ion binding skin(3)|kidney(2) 5 AAGACACGTCTGAAAACAGAAA 0.381 NaN NaN NaN NaN NaN NaN 36 67 --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340475 39340477 + Splice_Site DEL TGC TGC - rs145519739 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:39340475_39340477delTGC uc002hwe.3 - 2 613 c.572_splice c.e2+1 NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GAGGTCTGAATGCTGCTGGGAAG 0.379 NaN NaN NaN NaN NaN NaN 3 3 --- --- NOP56 10528 broad.mit.edu 37 20 2635118 2635118 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635118delG uc002wgh.2 + 4 320 c.267delG c.(265-267)AAGfs p.K89fs NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 89 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 CCAAAAAGAAGAAAGTACTCT 0.537 NaN NaN NaN NaN NaN NaN 45 72 --- --- HERC5 51191 broad.mit.edu 37 4 89415386 89415386 + Frame_Shift_Del DEL T T - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:89415386delT uc003hrt.2 + 18 2501 c.2348delT c.(2347-2349)GTTfs p.V783fs HERC5_uc011cdm.1_Frame_Shift_Del_p.V421fs NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 783 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AATTGCAATGTTGCCAACCTT 0.368 NaN NaN NaN NaN NaN NaN 12 37 --- --- FOXQ1 94234 broad.mit.edu 37 6 1313255 1313256 + Frame_Shift_Ins INS - - GC TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1313255_1313256insGC uc003mtl.3 + 1 581_582 c.316_317insGC c.(316-318)GGCfs p.G106fs NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 106 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) cgcggggagcggcgagggtgCA 0.322 NaN NaN NaN NaN NaN NaN 7 11 --- --- HOXA3 3200 broad.mit.edu 37 7 27148001 27148005 + Frame_Shift_Del DEL ACGGG ACGGG - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:27148001_27148005delACGGG uc011jzl.1 - 3 1061_1065 c.861_865delCCCGT c.(859-867)GTCCCGTATfs p.V287fs HOXA3_uc011jzk.1_Frame_Shift_Del_p.V129fs|HOXA3_uc003syk.2_Frame_Shift_Del_p.V287fs NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 287_289 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 TGGGGCTCATACGGGACGCTGTTGA 0.693 NaN NaN NaN NaN NaN NaN 27 57 --- --- SULF1 23213 broad.mit.edu 37 8 70536366 70536366 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:70536366delG uc010lza.1 + 15 2501 c.1784delG c.(1783-1785)AGGfs p.R595fs SULF1_uc003xyd.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xye.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 595 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGTGGCAACAGGGGCAGGATG 0.512 NaN NaN NaN NaN NaN NaN 9 20 --- ---