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 CLCNKB 1188 broad.mit.edu 37 1 16375654 16375654 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:16375654C>G uc001axw.3 + 8 775 c.695C>G c.(694-696)TCT>TGT p.S232C FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.S232C|CLCNKB_uc001axy.3_Missense_Mutation_p.S63C NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 232 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCCCACTTCTCTGTCTGGGAT 0.637 NaN 0 0 0 0.134883 0 27 66 ALDH4A1 8659 broad.mit.edu 37 1 19204070 19204070 + Missense_Mutation SNP G G A rs139430775 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:19204070G>A uc001bbb.2 - 10 1253 c.977C>T c.(976-978)TCG>TTG p.S326L ALDH4A1_uc010ocu.1_Missense_Mutation_p.S266L|ALDH4A1_uc001bbc.2_Missense_Mutation_p.S326L NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 326 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CACGTCGGCCGAGCGGTGCAC 0.672 NaN 0 0 0 0.009096 0 3 19 GRHL3 57822 broad.mit.edu 37 1 24664503 24664503 + Missense_Mutation SNP G G A rs141594535 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:24664503G>A uc001biy.2 + 7 923 c.877G>A c.(877-879)GAC>AAC p.D293N GRHL3_uc001bix.2_Missense_Mutation_p.D288N|GRHL3_uc001biz.2_Missense_Mutation_p.D195N NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 288 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GGTTGTCTTCGACAATGAGAA 0.572 NaN 0 0 0 0.117977 0 35 69 GPN2 54707 broad.mit.edu 37 1 27216470 27216470 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:27216470C>T uc001bnd.1 - 1 400 c.118G>A c.(118-120)GTG>ATG p.V40M NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 40 GTP binding 0 ACCACCGCCACGCGCCGGCCC 0.721 NaN 0 0 0 0.009096 0 3 12 CSMD2 114784 broad.mit.edu 37 1 34208906 34208906 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:34208906C>T uc001bxn.1 - 14 2057 c.2028G>A c.(2026-2028)AAG>AAA p.K676K CSMD2_uc001bxm.1_Silent_p.K716K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 676 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAAGCCCCTCTTCCCTGTGG 0.582 NaN 0 0 0 0.02938 0 5 20 MTF1 4520 broad.mit.edu 37 1 38289456 38289456 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:38289456G>A uc001cce.1 - 8 1238 c.1097C>T c.(1096-1098)TCA>TTA p.S366L MTF1_uc009vvj.1_Missense_Mutation_p.S57L NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 366 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GATTGCTGGTGAAATTGTGCT 0.438 NaN 0 0 0 0.069288 0 18 34 RHBDL2 54933 broad.mit.edu 37 1 39384795 39384795 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:39384795C>T uc001ccu.1 - 2 318 c.90G>A c.(88-90)ATG>ATA p.M30I RHBDL2_uc010oin.1_Missense_Mutation_p.M30I|RHBDL2_uc010oio.1_Missense_Mutation_p.M110I|RHBDL2_uc001ccv.2_Missense_Mutation_p.M30I NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 30 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CATCCTCTCTCATTTTCTCCT 0.488 NaN 0 0 0 0.134883 0 27 91 CYP4A22 284541 broad.mit.edu 37 1 47603168 47603168 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:47603168C>G uc001cqv.1 + 1 62 c.11C>G c.(10-12)TCT>TGT p.S4C CYP4A22_uc009vyo.2_Missense_Mutation_p.S4C|CYP4A22_uc009vyp.2_Missense_Mutation_p.S4C NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 4 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 ATGAGTGTCTCTGTCCTGAGC 0.597 NaN 0 0 0 0.125774 0 28 70 LRRC7 57554 broad.mit.edu 37 1 70504238 70504238 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:70504238G>A uc001dep.2 + 19 2647 c.2617G>A c.(2617-2619)GAA>AAA p.E873K LRRC7_uc009wbg.2_Missense_Mutation_p.E157K|LRRC7_uc001deq.2_Missense_Mutation_p.E114K NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 873 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCCATTGCCTGAAAGGAAAGA 0.458 NaN 0 0 0 0.139131 0 35 63 CCDC18 343099 broad.mit.edu 37 1 93680450 93680450 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:93680450G>C uc001dpq.2 + 12 2168 c.2000G>C c.(1999-2001)AGA>ACA p.R667T CCDC18_uc009wdl.1_Missense_Mutation_p.R228T NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 548 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) ATGGCTCACAGAACTAGTCAG 0.383 NaN 0 0 0 0.058154 0 8 14 PDE4DIP 9659 broad.mit.edu 37 1 144879256 144879256 + Silent SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:144879256C>A uc001elw.3 - 27 4485 c.4194G>T c.(4192-4194)CTG>CTT p.L1398L 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_Silent_p.L1354L|PDE4DIP_uc001elv.3_Silent_p.L405L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1398 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) CAACAGCTCTCAGCTTCCAGG 0.537 NaN T PDGFRB MPD 1 0 1.00905e-13 0.049695 1.09023e-13 19 102 PDE4DIP 9659 broad.mit.edu 37 1 144882724 144882724 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:144882724G>A uc001elw.3 - 24 3586 c.3295C>T c.(3295-3297)CAG>TAG p.Q1099* 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_Intron|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.Q106* NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1099 Potential. 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) AACTCAGCCTGAAGGCTACTC 0.483 NaN T PDGFRB MPD 0 0 0 0.139131 0 38 208 RPRD2 23248 broad.mit.edu 37 1 150444774 150444774 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:150444774G>A uc009wlr.2 + 11 3551 c.3350G>A c.(3349-3351)AGA>AAA p.R1117K RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1091K NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1117 protein binding ovary(1) 1 AAGGGAAATAGAGGACATGGG 0.522 NaN 0 0 0 0.038147 0 6 19 HORMAD1 84072 broad.mit.edu 37 1 150679139 150679139 + Nonsense_Mutation SNP G G A rs150156011 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:150679139G>A uc001evk.1 - 10 800 c.694C>T c.(694-696)CGA>TGA p.R232* HORMAD1_uc001evl.1_Nonsense_Mutation_p.R225*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.R152* NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 232 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TTTTCCATTCGTTCTCTCTCA 0.353 NaN 0 0 0 0.076483 0 18 64 CELF3 11189 broad.mit.edu 37 1 151678328 151678328 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:151678328C>T uc001eys.1 - 11 2034 c.1240G>A c.(1240-1242)GAC>AAC p.D414N CELF3_uc010pdh.1_Missense_Mutation_p.D200N|CELF3_uc001eyr.2_Missense_Mutation_p.D413N|CELF3_uc009wmy.2_Missense_Mutation_p.D364N|CELF3_uc009wmx.1_Missense_Mutation_p.D413N NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 414 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 GTGGCTCGGTCAACAAAGACT 0.438 NaN 0 0 0 0.132662 0 13 30 TCHH 7062 broad.mit.edu 37 1 152080269 152080269 + Silent SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:152080269T>C uc001ezp.2 - 2 5424 c.5424A>G c.(5422-5424)GAA>GAG p.E1808E TCHH_uc009wne.1_Silent_p.E1808E NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1808 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCTGTTCTTCCCTCTCCT 0.597 NaN 0 0 0 0.009096 0 3 72 IL6R 3570 broad.mit.edu 37 1 154420627 154420627 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:154420627G>A uc001fez.1 + 7 1413 c.976G>A c.(976-978)GAG>AAG p.E326K IL6R_uc001ffa.1_Missense_Mutation_p.E326K NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 326 Extracellular (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTGAGAACGAGGTGTCCAC 0.463 NaN 0 0 0 0.139131 0 38 64 RXRG 6258 broad.mit.edu 37 1 165398029 165398029 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:165398029G>T uc001gda.2 - 2 524 c.224C>A c.(223-225)TCT>TAT p.S75Y NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 75 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GCCCATGGCAGAGGTGATGAC 0.602 NaN 1 0 4.63292e-17 0.049695 5.06389e-17 18 28 C1orf116 79098 broad.mit.edu 37 1 207196604 207196604 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:207196604C>T uc001hfd.2 - 4 764 c.505G>A c.(505-507)GAG>AAG p.E169K C1orf116_uc009xcb.1_5'UTR NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 169 cytoplasm|plasma membrane receptor activity p.E169E(1) skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) TGTTCTTTCTCAGGCTCTGGC 0.602 NaN 0 0 0 0.083992 0 25 33 ARID4B 51742 broad.mit.edu 37 1 235331917 235331917 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:235331917C>T uc001hwq.2 - 24 4360 c.3862G>A c.(3862-3864)GCT>ACT p.A1288T ARID4B_uc001hwr.2_Missense_Mutation_p.A1202T|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1288 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ATAACAGCAGCTGTTATGGAA 0.428 NaN 0 0 0 0.146539 0 14 28 ZNF695 57116 broad.mit.edu 37 1 247151490 247151490 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr1:247151490C>T uc009xgu.2 - 4 472 c.327G>A c.(325-327)GTG>GTA p.V109V ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.V109V|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Silent_p.V97V NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 109 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTCAGCATCACTTTTTGGA 0.373 NaN 0 0 0 0.0918 0 27 54 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:37430948C>G uc001iza.1 + 7 1054 c.955C>G c.(955-957)CCA>GCA p.P319A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGCCAGCAAAAGG 0.423 NaN 0 0 0 0.014758 0 3 75 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 NaN 0 0 0 0.021553 0 4 69 GDF2 2658 broad.mit.edu 37 10 48414156 48414156 + Missense_Mutation SNP C C T rs137873272 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:48414156C>T uc001jfa.1 - 2 875 c.712G>A c.(712-714)GAC>AAC p.D238N NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 238 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TCCAGCGTGTCGCAGCCCTTC 0.577 NaN 0 0 0 0.146539 0 14 21 OGDHL 55753 broad.mit.edu 37 10 50952768 50952768 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:50952768C>T uc001jie.2 - 13 1802 c.1660G>A c.(1660-1662)GAG>AAG p.E554K OGDHL_uc009xog.2_Missense_Mutation_p.E581K|OGDHL_uc010qgt.1_Missense_Mutation_p.E497K|OGDHL_uc010qgu.1_Missense_Mutation_p.E345K|OGDHL_uc009xoh.2_Missense_Mutation_p.E345K NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 554 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TAAGCCTCCTCACAGATCCGG 0.542 NaN 0 0 0 0.0918 0 21 40 TET1 80312 broad.mit.edu 37 10 70446167 70446167 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:70446167G>A uc001jok.3 + 11 5612 c.5107G>A c.(5107-5109)GAG>AAG p.E1703K NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1703 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCCTCAAGATGAGCAGCTCCA 0.453 NaN 0 0 0 0.099896 0 22 53 HKDC1 80201 broad.mit.edu 37 10 71008378 71008378 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:71008378G>A uc001jpf.3 + 10 1597 c.1464G>A c.(1462-1464)CAG>CAA p.Q488Q HKDC1_uc010qje.1_Silent_p.Q351Q NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 488 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 TGGACGTGCAGGCCAAGATGC 0.667 NaN 0 0 0 0.069234 0 9 15 FGF8 2253 broad.mit.edu 37 10 103534601 103534601 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:103534601G>C uc001ktp.1 - 4 362 c.192C>G c.(190-192)CTC>CTG p.L64L FGF8_uc001ktq.1_Silent_p.L75L|FGF8_uc001ktr.1_Silent_p.L46L|FGF8_uc001kts.1_Silent_p.L35L|FGF8_uc009xwr.1_5'UTR NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 64 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GGCGGCGGCTGAGCTGATCCG 0.542 NaN 0 0 0 0.069234 0 10 19 C10orf79 80217 broad.mit.edu 37 10 105903255 105903255 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:105903255C>T uc001kxw.2 - 32 4203 c.4087G>A c.(4087-4089)GAA>AAA p.E1363K C10orf79_uc009xxq.2_Missense_Mutation_p.E642K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1363 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCCAAGCCTTCTGGCATGTTA 0.383 NaN 0 0 0 0.108266 0 22 53 SORCS3 22986 broad.mit.edu 37 10 106960946 106960946 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:106960946G>A uc001kyi.1 + 16 2423 c.2196G>A c.(2194-2196)CTG>CTA p.L732L SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 732 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGTGTGCCCTGGGCCGAGACC 0.488 NaN 0 0 0 0.0918 0 22 45 SORCS1 114815 broad.mit.edu 37 10 108371675 108371675 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:108371675C>T uc001kym.2 - 22 3035 c.3027G>A c.(3025-3027)CTG>CTA p.L1009L SORCS1_uc001kyl.2_Silent_p.L1009L|SORCS1_uc009xxs.2_Silent_p.L1009L|SORCS1_uc001kyn.1_Silent_p.L1009L|SORCS1_uc001kyo.2_Silent_p.L1009L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1009 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCACTTCCACCAGGGATTTTT 0.483 NaN 0 0 0 0.02938 0 6 23 SORCS1 114815 broad.mit.edu 37 10 108923757 108923757 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:108923757G>T uc001kym.2 - 1 536 c.528C>A c.(526-528)GCC>GCA p.A176A SORCS1_uc001kyl.2_Silent_p.A176A|SORCS1_uc009xxs.2_Silent_p.A176A|SORCS1_uc001kyn.1_Silent_p.A176A|SORCS1_uc001kyo.2_Silent_p.A176A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 176 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTGGACCATGGCTTGGTTGT 0.582 NaN 1 0 2.89027e-11 0.069288 3.09907e-11 19 36 SMC3 9126 broad.mit.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:112349666G>A uc001kze.2 + 15 1552 c.1426G>A c.(1426-1428)GAG>AAG p.E476K NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 476 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GTGGAGAGAAGAGAATGCAGA 0.358 NaN 0 0 0 0.144211 0 22 41 WDR11 55717 broad.mit.edu 37 10 122648591 122648591 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:122648591G>A uc010qtf.1 + 17 2361 c.2123G>A c.(2122-2124)GGA>GAA p.G708E WDR11_uc010qte.1_Missense_Mutation_p.G310E|WDR11_uc001lfd.1_Missense_Mutation_p.G226E|WDR11_uc009xzn.2_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 708 WD 6. integral to membrane 0 GTTTTCTAGGGAAGTATGGGT 0.313 NaN 0 0 0 0.069456 0 30 57 C10orf93 255352 broad.mit.edu 37 10 134750515 134750515 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr10:134750515C>G uc001llt.1 - 7 781 c.705G>C c.(703-705)AAG>AAC p.K235N NM_173572 NP_775843 Q5SR76 CJ093_HUMAN hypothetical protein LOC255352 235 binding pancreas(1) 1 all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175) Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05) TGGAATTTTTCTTTTCTTCCT 0.274 NaN 0 0 0 0.014758 0 4 13 DKK3 27122 broad.mit.edu 37 11 11986170 11986170 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:11986170G>A uc001mju.2 - 7 951 c.894C>T c.(892-894)ATC>ATT p.I298I DKK3_uc010rcf.1_Silent_p.I270I|DKK3_uc001mjv.2_Silent_p.I298I|DKK3_uc001mjw.2_Silent_p.I298I|DKK3_uc010rcg.1_Silent_p.I312I NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 298 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) TGGGCAGCAGGATCTCCCCAT 0.597 NaN 0 0 0 0.055883 0 19 13 P2RX3 5024 broad.mit.edu 37 11 57135555 57135555 + Silent SNP C C T rs150261482 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:57135555C>T uc001nju.2 + 9 991 c.915C>T c.(913-915)TTC>TTT p.F305F NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 305 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 GCATCCGCTTCGACGTGCTGG 0.567 NaN 0 0 0 0.0333 0 12 76 SLC43A3 29015 broad.mit.edu 37 11 57188794 57188794 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:57188794G>A uc001nkg.2 - 6 824 c.414C>T c.(412-414)ATC>ATT p.I138I PRG2_uc001nke.2_Silent_p.I37I|SLC43A3_uc001nkh.2_Silent_p.I138I|SLC43A3_uc010rjr.1_Silent_p.I151I|SLC43A3_uc009yme.2_Silent_p.I138I|SLC43A3_uc001nki.2_Silent_p.I138I|SLC43A3_uc009ymf.1_Silent_p.I138I|SLC43A3_uc010rjs.1_Silent_p.I138I|SLC43A3_uc009ymg.1_Silent_p.I151I NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 138 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1) 1 TGAGAAACAGGATTCCCCCAA 0.562 NaN 0 0 0 0.0333 0 16 24 AHNAK 79026 broad.mit.edu 37 11 62297946 62297946 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:62297946C>T uc001ntl.2 - 5 4243 c.3943G>A c.(3943-3945)GAG>AAG p.E1315K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1315 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAGTGCATCTCAGGCATCTTA 0.522 NaN 0 0 0 0.047766 0 8 186 POLD3 10714 broad.mit.edu 37 11 74340342 74340342 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:74340342C>G uc001ovf.1 + 9 1055 c.980C>G c.(979-981)CCT>CGT p.P327R POLD3_uc009yua.1_Missense_Mutation_p.P221R NM_006591 NP_006582 Q15054 DPOD3_HUMAN DNA-directed DNA polymerase delta 3 327 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding kidney(2)|ovary(1) 3 Breast(11;3.21e-06) ATCAAACTTCCTGAATCTGAT 0.388 NaN 0 0 0 0.014758 0 4 72 FOLH1B 219595 broad.mit.edu 37 11 89405073 89405073 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:89405073G>A uc001pda.2 + 5 726 c.200G>A c.(199-201)GGA>GAA p.G67E NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 67 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GTCATTCTGGGAGGTCACCGG 0.408 NaN 0 0 0 0.045705 0 17 60 UBE4A 9354 broad.mit.edu 37 11 118257262 118257262 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:118257262A>G uc001psw.2 + 16 2651 c.2522A>G c.(2521-2523)CAG>CGG p.Q841R UBE4A_uc001psv.2_Missense_Mutation_p.Q848R NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 841 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ATGTTTGGACAGCTGGCACGT 0.468 NaN 0 0 0 0.139131 0 48 154 CDON 50937 broad.mit.edu 37 11 125889642 125889642 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:125889642G>A uc009zbw.2 - 4 496 c.368C>T c.(367-369)TCA>TTA p.S123L CDON_uc001qdc.3_Missense_Mutation_p.S123L|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.S123L NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 123 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTTTGTGGATGAACCAAAATC 0.353 NaN 0 0 0 0.132662 0 13 30 PRB1 5542 broad.mit.edu 37 12 11506602 11506602 + Silent SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:11506602T>C uc001qzw.1 - 3 472 c.435A>G c.(433-435)GGA>GGG p.G145G PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 206 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGACTTGTCTCCTTGTGGGG 0.607 NaN 0 0 0 0.09319 0 10 218 ATF7IP 55729 broad.mit.edu 37 12 14649244 14649244 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:14649244C>T uc001rbw.2 + 14 3518 c.3360C>T c.(3358-3360)CTC>CTT p.L1120L ATF7IP_uc001rbx.2_Silent_p.L1119L|ATF7IP_uc001rby.3_Silent_p.L1120L|ATF7IP_uc001rca.2_Silent_p.L1120L NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1120 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GACCTCAGCTCACAGTGCATC 0.393 NaN 0 0 0 0.099896 0 20 38 HIST4H4 121504 broad.mit.edu 37 12 14923749 14923749 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:14923749C>T uc001rcf.3 - 1 317 c.270G>A c.(268-270)GCG>GCA p.A90A HIST4H4_uc001rce.2_RNA NM_175054 NP_778224 P62805 H4_HUMAN histone cluster 4, H4 90 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 GGCGTTTCAGCGCGTACACCA 0.582 NaN OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 52 46 PKP2 5318 broad.mit.edu 37 12 33021978 33021978 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:33021978C>T uc001rlj.3 - 4 1168 c.1053G>A c.(1051-1053)ATG>ATA p.M351I PKP2_uc001rlk.3_Missense_Mutation_p.M351I|PKP2_uc010skj.1_Missense_Mutation_p.M351I NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 351 ARM 1. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCTCCAGAGTCATCTCCATGT 0.527 NaN 0 0 0 0.139131 0 59 54 MLL2 8085 broad.mit.edu 37 12 49435941 49435941 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:49435941G>A uc001rta.3 - 28 6040 c.6040C>T c.(6040-6042)CAG>TAG p.Q2014* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2014 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 GTGGACAGCTGGCCCAACTCC 0.577 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.105934 0 11 13 SPRYD3 84926 broad.mit.edu 37 12 53460407 53460407 + Missense_Mutation SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:53460407A>T uc001sbt.1 - 9 992 c.971T>A c.(970-972)ATC>AAC p.I324N SPRYD3_uc010snw.1_Missense_Mutation_p.I150N NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 324 central_nervous_system(1) 1 ACAGCCCATGATGTCCCCTTT 0.587 NaN OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.069234 0 9 19 PAN2 9924 broad.mit.edu 37 12 56720165 56720165 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:56720165G>C uc001skx.2 - 8 1664 c.1291C>G c.(1291-1293)CTG>GTG p.L431V PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.L431V|PAN2_uc001sky.2_Missense_Mutation_p.L431V NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 431 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 ATGGTGCGCAGAATCTCTGCA 0.572 NaN 0 0 0 0.021553 0 4 17 PLXNC1 10154 broad.mit.edu 37 12 94658921 94658921 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:94658921G>A uc001tdc.2 + 21 3766 c.3517G>A c.(3517-3519)GTG>ATG p.V1173M PLXNC1_uc010sut.1_Missense_Mutation_p.V220M|PLXNC1_uc009zsv.2_Translation_Start_Site NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1173 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CAAGGGTCCCGTGGATGTAAT 0.448 NaN 0 0 0 0.139131 0 109 139 ANO4 121601 broad.mit.edu 37 12 101442180 101442180 + Splice_Site SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:101442180G>A uc010svm.1 + 14 1884 c.1312_splice c.e14+1 p.A438_splice ANO4_uc001thw.2_Splice_Site_p.A403_splice|ANO4_uc001thx.2_Splice_Site_p.A438_splice|ANO4_uc001thy.2_Splice_Site_p.A5_splice NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GCAGTCTGGGGTAAGTGTTCT 0.373 NaN HNSCC(74;0.22) 0 0 0 0.038395 0 13 39 MYBPC1 4604 broad.mit.edu 37 12 102069129 102069129 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr12:102069129C>G uc001tii.2 + 25 2950 c.2848C>G c.(2848-2850)CTC>GTC p.L950V MYBPC1_uc001tig.2_Missense_Mutation_p.L957V|MYBPC1_uc010svq.1_Missense_Mutation_p.L919V|MYBPC1_uc001tih.2_Missense_Mutation_p.L957V|MYBPC1_uc001tij.2_Missense_Mutation_p.L932V|MYBPC1_uc010svr.1_Missense_Mutation_p.L932V|MYBPC1_uc010svs.1_Missense_Mutation_p.L950V|MYBPC1_uc010svt.1_Missense_Mutation_p.L920V|MYBPC1_uc010svu.1_Missense_Mutation_p.L913V|MYBPC1_uc001tik.2_Missense_Mutation_p.L906V|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 950 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 AAATGTCGCTCTCACATGGAC 0.478 NaN 0 0 0 0.146539 0 17 39 FREM2 341640 broad.mit.edu 37 13 39266378 39266378 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:39266378G>A uc001uwv.2 + 1 5206 c.4897G>A c.(4897-4899)GAT>AAT p.D1633N NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1633 Extracellular (Potential).|CSPG 11. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTTTTTCCTGATACGGTGTT 0.458 NaN 0 0 0 0.0333 0 16 42 KIAA1704 55425 broad.mit.edu 37 13 45580434 45580434 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:45580434C>G uc001uzq.2 + 3 422 c.319C>G c.(319-321)CCA>GCA p.P107A KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.P107A|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 107 pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) TGATTCTCCTCCAAGGTGATA 0.279 NaN 0 0 0 0.139131 0 39 124 ATP7B 540 broad.mit.edu 37 13 52544680 52544680 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:52544680C>T uc001vfw.2 - 3 1648 c.1491G>A c.(1489-1491)ATG>ATA p.M497I ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.M497I|ATP7B_uc001vfy.2_Missense_Mutation_p.M386I|ATP7B_uc010tgt.1_Missense_Mutation_p.M497I|ATP7B_uc010tgu.1_Missense_Mutation_p.M497I|ATP7B_uc010tgv.1_Missense_Mutation_p.M497I|ATP7B_uc010tgw.1_Missense_Mutation_p.M465I NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 497 HMA 5.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATGCACAGGTCATGCCTTTGA 0.502 NaN Wilson_disease 0 0 0 0.139131 0 63 106 MYCBP2 23077 broad.mit.edu 37 13 77656085 77656085 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:77656085G>A uc001vkf.2 - 65 11057 c.10966C>T c.(10966-10968)CAT>TAT p.H3656Y MYCBP2_uc010aev.2_Missense_Mutation_p.H3060Y|MYCBP2_uc001vke.2_Missense_Mutation_p.H276Y NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3656 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGCTCTGATGAAGGAACTGG 0.363 NaN 0 0 0 0.076483 0 23 31 GPC6 10082 broad.mit.edu 37 13 94958333 94958333 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:94958333G>C uc001vlt.2 + 6 1740 c.1108G>C c.(1108-1110)GAG>CAG p.E370Q GPC6_uc010tig.1_Missense_Mutation_p.E370Q NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 370 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CTACAATCCTGAGGAAAGACC 0.502 NaN 0 0 0 0.076483 0 19 34 RASA3 22821 broad.mit.edu 37 13 114758015 114758015 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr13:114758015C>T uc001vui.2 - 22 2322 c.2191G>A c.(2191-2193)GAG>AAG p.E731K RASA3_uc010tkk.1_Missense_Mutation_p.E699K|RASA3_uc001vuj.2_Missense_Mutation_p.E348K NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 731 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TAGATACGCTCCGTCTCACGG 0.527 NaN 0 0 0 0.043863 0 15 39 RNASE13 440163 broad.mit.edu 37 14 21502251 21502251 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:21502251G>A uc001vzj.2 - 2 335 c.197C>T c.(196-198)TCA>TTA p.S66L NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 66 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) TGGGCAATCTGAATTTTGCAT 0.428 NaN 0 0 0 0.139131 0 44 37 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:23887583C>T uc001wjx.2 - 30 4111 c.4005G>A c.(4003-4005)TCG>TCA p.S1335S MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662 NaN 0 0 0 0.02938 0 3 57 TRIM9 114088 broad.mit.edu 37 14 51561204 51561204 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:51561204C>T uc001wyx.3 - 1 1219 c.454G>A c.(454-456)GAA>AAA p.E152K TRIM9_uc001wyy.2_Missense_Mutation_p.E152K|TRIM9_uc001wyz.3_Missense_Mutation_p.E152K NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 152 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) ATTACCCCTTCCAGTACGCGA 0.642 NaN 0 0 0 0.021553 0 4 13 DHRS7 51635 broad.mit.edu 37 14 60622822 60622822 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:60622822C>G uc001xes.2 - 2 366 c.182G>C c.(181-183)GGA>GCA p.G61A C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.G11A|DHRS7_uc001xeu.2_Missense_Mutation_p.G61A NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 61 NAD (By similarity). binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) CTCACCAATTCCACTCGAGGC 0.463 NaN 0 0 0 0.054565 0 29 47 PCNX 22990 broad.mit.edu 37 14 71445358 71445358 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:71445358C>T uc001xmo.2 + 6 2750 c.2304C>T c.(2302-2304)GTC>GTT p.V768V PCNX_uc001xmn.3_Silent_p.V768V|PCNX_uc010are.1_Silent_p.V768V NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 768 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AAGATGCAGTCAGTGGAGGTA 0.393 NaN 0 0 0 0.124865 0 35 45 C14orf102 55051 broad.mit.edu 37 14 90778760 90778760 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:90778760G>C uc001xyi.1 - 4 566 c.535C>G c.(535-537)CTC>GTC p.L179V C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_5'UTR NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 179 Potential. protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CCTCGGTAGAGAGACTTGTAC 0.478 NaN 0 0 0 0.092188 0 31 82 C14orf129 51527 broad.mit.edu 37 14 96852000 96852000 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:96852000G>C uc001yfj.3 + 4 544 c.399G>C c.(397-399)TTG>TTC p.L133F C14orf129_uc001yfl.2_Missense_Mutation_p.L133F NM_016472 NP_057556 Q9P0R6 GSKIP_HUMAN chromosome 14 open reading frame 129 133 Interaction with GSK3B. cytoplasm protein binding 0 Melanoma(154;0.226) Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205) TGGAAGCTTTGAAAAGAGATG 0.438 NaN 0 0 0 0.139131 0 66 62 CYP46A1 10858 broad.mit.edu 37 14 100166436 100166436 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:100166436G>C uc001ygo.2 + 5 441 c.441G>C c.(439-441)CGG>CGC p.R147R CYP46A1_uc001ygn.1_Silent_p.R109R NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 147 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) CCTTCAGCCGGAGGTGAGTGT 0.622 NaN 0 0 0 0.021553 0 5 24 RAGE 5891 broad.mit.edu 37 14 102729905 102729905 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:102729905C>T uc001ylm.2 - 4 487 c.261G>A c.(259-261)ATG>ATA p.M87I RAGE_uc010txv.1_Missense_Mutation_p.M57I|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 87 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CATAAATATTCATGTCCATAA 0.308 NaN 0 0 0 0.132662 0 10 33 TRAF3 7187 broad.mit.edu 37 14 103369714 103369714 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:103369714G>A uc001ymc.1 + 11 1436 c.1083G>A c.(1081-1083)GTG>GTA p.V361V TRAF3_uc001yme.1_Silent_p.V336V|TRAF3_uc001ymd.1_Silent_p.V361V|TRAF3_uc010txy.1_Silent_p.V278V|TRAF3_uc001ymf.1_Silent_p.V94V NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 361 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGAACCGCGTGACCGAGCTGG 0.652 NaN 0 0 0 0.11126 0 37 45 KIF26A 26153 broad.mit.edu 37 14 104640516 104640516 + Missense_Mutation SNP T T A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:104640516T>A uc001yos.3 + 11 2062 c.2062T>A c.(2062-2064)TCC>ACC p.S688T NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 688 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCTGCGTGAATCCCTGGCCAC 0.687 NaN 0 0 0 0.021553 0 3 7 AHNAK2 113146 broad.mit.edu 37 14 105409457 105409457 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr14:105409457C>T uc010axc.1 - 7 12451 c.12331G>A c.(12331-12333)GAT>AAT p.D4111N AHNAK2_uc001ypx.2_Missense_Mutation_p.D4011N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4111 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCACACCATCCAGCTTTGCT 0.577 NaN 0 0 0 0.055883 0 17 332 ATP10A 57194 broad.mit.edu 37 15 25959383 25959383 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:25959383C>T uc010ayu.2 - 10 1888 c.1782G>A c.(1780-1782)AGG>AGA p.R594R NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 594 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CAAACCTCACCCTCACCTGCA 0.602 NaN 0 0 0 0.069288 0 19 26 WDR72 256764 broad.mit.edu 37 15 54003115 54003115 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:54003115C>T uc002acj.2 - 9 935 c.893G>A c.(892-894)AGA>AAA p.R298K WDR72_uc010bfi.1_Missense_Mutation_p.R298K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 298 lung(1)|skin(1) 2 all cancers(107;0.0511) TTTAAGCACTCTTCCATCAGC 0.388 NaN 0 0 0 0.045705 0 26 30 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:78290635C>T uc002bcy.3 - 13 2759 c.2759G>A c.(2758-2760)CGA>CAA p.R920Q TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B isoform a 920 intracellular protein binding|Rab GTPase activator activity p.D903N(1) ovary(1)|large_intestine(1)|breast(1) 3 GTAGGCGCGTCGGTTCCGGAT 0.617 NaN 0 0 0 0.02938 0 4 15 MEFV 4210 broad.mit.edu 37 16 3294272 3294272 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:3294272C>T uc002cun.1 - 8 1781 c.1741G>A c.(1741-1743)GAA>AAA p.E581K NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 581 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) ATTTCCATTTCTGAACGCAGG 0.522 NaN 0 0 0 0.116897 0 24 26 CLEC16A 23274 broad.mit.edu 37 16 11076791 11076791 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:11076791G>T uc002dao.2 + 10 1244 c.1014G>T c.(1012-1014)CTG>CTT p.L338L CLEC16A_uc002dan.3_Silent_p.L336L NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 338 ovary(1)|central_nervous_system(1) 2 AAGTCATTCTGAATGGTGATC 0.428 NaN 1 0 4.36969e-10 0.105934 4.65001e-10 10 39 ABCC1 4363 broad.mit.edu 37 16 16180769 16180769 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:16180769C>T uc010bvi.2 + 18 2556 c.2381C>T c.(2380-2382)CCC>CTC p.P794L ABCC1_uc010bvj.2_Missense_Mutation_p.P735L|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Missense_Mutation_p.P794L|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Missense_Mutation_p.P678L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 794 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCGATGATCCCCTCTCAGCA 0.597 NaN 0 0 0 0.049695 0 18 59 UMOD 7369 broad.mit.edu 37 16 20344666 20344666 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:20344666G>T uc002dgz.2 - 11 2022 c.1893C>A c.(1891-1893)CTC>CTA p.L631L UMOD_uc002dha.2_Silent_p.L631L|UMOD_uc002dhb.2_Silent_p.L664L NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 631 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 AGGTGGCCGAGAGAAGCAGAG 0.542 NaN 1 0 0.000274275 0.047766 0.000281257 6 30 ACSM5 54988 broad.mit.edu 37 16 20441100 20441100 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:20441100G>A uc002dhe.2 + 8 1249 c.1102G>A c.(1102-1104)GAA>AAA p.E368K NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 368 ATP (By similarity). fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GGAGCTGTACGAAGGCTATGG 0.617 NaN 0 0 0 0.11911 0 11 51 CDH1 999 broad.mit.edu 37 16 68863653 68863653 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:68863653C>G uc002ewg.1 + 15 2516 c.2392C>G c.(2392-2394)CTT>GTT p.L798V CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L737V NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 798 Cytoplasmic (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CCCCCGGTATCTTCCCCGCCC 0.522 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.0918 0 19 80 MPHOSPH6 10200 broad.mit.edu 37 16 82183009 82183009 + Splice_Site SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:82183009C>A uc002fgw.2 - 4 305 c.256_splice c.e4-1 p.K86_splice NM_005792 NP_005783 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding 0 GCATCAATTTCTGAAAAATAC 0.398 NaN 1 0 1.90571e-15 0.069456 2.07494e-15 34 35 KLHDC4 54758 broad.mit.edu 37 16 87760397 87760397 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:87760397C>T uc002fki.2 - 7 779 c.733G>A c.(733-735)GTC>ATC p.V245I KLHDC4_uc010cht.1_Missense_Mutation_p.V64I|KLHDC4_uc002fkj.2_Missense_Mutation_p.V214I|KLHDC4_uc002fkk.2_Missense_Mutation_p.V64I|KLHDC4_uc002fkl.2_Missense_Mutation_p.V188I|KLHDC4_uc010chu.1_Missense_Mutation_p.V64I NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 245 Kelch 4. pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) CCATAGACGACGATGCCGCCC 0.652 NaN 0 0 0 0.049695 0 15 30 ANKRD11 29123 broad.mit.edu 37 16 89351818 89351818 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr16:89351818T>C uc002fmx.1 - 9 1593 c.1132A>G c.(1132-1134)AAT>GAT p.N378D ANKRD11_uc002fmy.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnc.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnb.1_Missense_Mutation_p.N335D NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 378 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ATAAAACTATTGGATTTCGTT 0.433 NaN 0 0 0 0.050027 0 27 55 SPATA22 84690 broad.mit.edu 37 17 3352316 3352316 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:3352316G>C uc002fvm.2 - 6 694 c.457C>G c.(457-459)CAA>GAA p.Q153E SPATA22_uc010vrg.1_Missense_Mutation_p.Q137E|SPATA22_uc010vrf.1_Missense_Mutation_p.Q153E|SPATA22_uc002fvn.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvo.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvp.2_Missense_Mutation_p.Q153E|SPATA22_uc010ckf.2_Missense_Mutation_p.Q110E NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 153 0 TTTTGTTGTTGAGCTCCCGAA 0.358 NaN 0 0 0 0.092188 0 35 83 KIF1C 10749 broad.mit.edu 37 17 4905368 4905368 + Silent SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:4905368C>G uc002gan.1 + 6 704 c.378C>G c.(376-378)CTC>CTG p.L126L NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 126 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GTGAGGACCTCTTCTCTCGCG 0.413 NaN 0 0 0 0.117977 0 34 48 DNAH2 146754 broad.mit.edu 37 17 7722612 7722612 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:7722612C>T uc002giu.1 + 71 10915 c.10901C>T c.(10900-10902)TCA>TTA p.S3634L DNAH2_uc010cnm.1_Missense_Mutation_p.S572L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3634 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TACCAGTTCTCACTGGATGCC 0.542 NaN 0 0 0 0.132662 0 14 47 FAM83G 644815 broad.mit.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:18907093G>A uc002guw.2 - 2 429 c.262C>T c.(262-264)CAG>TAG p.Q88* SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 88 ovary(1)|central_nervous_system(1) 2 TCGGGCCCCTGAGAGGGGCCC 0.701 NaN 0 0 0 0.009096 0 4 4 PIGS 94005 broad.mit.edu 37 17 26890869 26890869 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:26890869C>T uc002hbo.2 - 4 716 c.343G>A c.(343-345)GAG>AAG p.E115K PIGS_uc002hbn.2_Missense_Mutation_p.E107K|PIGS_uc010wap.1_Missense_Mutation_p.E54K NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 115 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GCCTCCTCCTCATGGTCCAAA 0.478 NaN 0 0 0 0.139131 0 43 130 ANKRD13B 124930 broad.mit.edu 37 17 27935029 27935029 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:27935029G>A uc002hei.2 + 3 389 c.276G>A c.(274-276)CGG>CGA p.R92R ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 92 ANK 2. 0 TGAGTACCCGGGACCTGGAGC 0.667 NaN 0 0 0 0.105934 0 11 27 ATAD5 79915 broad.mit.edu 37 17 29162311 29162311 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162311G>A uc002hfs.1 + 2 1558 c.1212G>A c.(1210-1212)ATG>ATA p.M404I ATAD5_uc002hft.1_Missense_Mutation_p.M301I NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 404 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCAATTTATGAAAGCATTTA 0.358 NaN 0 0 0 0.09319 0 12 44 ATAD5 79915 broad.mit.edu 37 17 29162605 29162605 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162605G>C uc002hfs.1 + 2 1852 c.1506G>C c.(1504-1506)AAG>AAC p.K502N ATAD5_uc002hft.1_Missense_Mutation_p.K399N NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 502 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ACACTCAAAAGAAAGAAACAA 0.303 NaN 0 0 0 0.105934 0 12 33 ATAD5 79915 broad.mit.edu 37 17 29162843 29162843 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29162843G>A uc002hfs.1 + 2 2090 c.1744G>A c.(1744-1746)GAA>AAA p.E582K ATAD5_uc002hft.1_Missense_Mutation_p.E479K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 582 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCTGAATCTGAAGCCAGCTT 0.378 NaN 0 0 0 0.0333 0 15 55 NF1 4763 broad.mit.edu 37 17 29533336 29533336 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29533336C>T uc002hgg.2 + 12 1672 c.1339C>T c.(1339-1341)CTT>TTT p.L447F NF1_uc002hge.1_Missense_Mutation_p.L447F|NF1_uc002hgf.1_Missense_Mutation_p.L447F|NF1_uc002hgh.2_Missense_Mutation_p.L447F|NF1_uc010csn.1_Missense_Mutation_p.L307F NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 447 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGGTGAAACACTTCATAAAGC 0.413 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.139131 0 40 90 NF1 4763 broad.mit.edu 37 17 29557904 29557904 + Nonsense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:29557904C>G uc002hgg.2 + 24 3491 c.3158C>G c.(3157-3159)TCA>TGA p.S1053* NF1_uc002hgh.2_Nonsense_Mutation_p.S1053*|NF1_uc010csn.1_Nonsense_Mutation_p.S913*|NF1_uc002hgi.1_Nonsense_Mutation_p.S86* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1053 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGGGAACATCAAACCAAGCA 0.358 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.02938 0 4 12 SPACA3 124912 broad.mit.edu 37 17 31322626 31322626 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:31322626C>T uc002hhs.1 + 2 309 c.234C>T c.(232-234)CTC>CTT p.L78L SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 78 Helical; Signal-anchor for type II membrane protein; (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) TCTGTCTGCTCAGCTGCCTGC 0.622 NaN 0 0 0 0.038395 0 17 47 TUBG1 7283 broad.mit.edu 37 17 40762134 40762134 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:40762134G>C uc002ian.2 + 2 456 c.58G>C c.(58-60)GAG>CAG p.E20Q FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron NM_001070 NP_001061 P23258 TBG1_HUMAN tubulin, gamma 1 20 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) AGTTGGGTTCGAGTTCTGGAA 0.627 NaN 0 0 0 0.054565 0 30 59 BECN1 8678 broad.mit.edu 37 17 40963765 40963765 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:40963765C>G uc002ibo.3 - 11 1227 c.1092G>C c.(1090-1092)AAG>AAC p.K364N BECN1_uc010whb.1_Missense_Mutation_p.K277N|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.K364N NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 364 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CATGGTCAAACTTGTTGTCCC 0.493 NaN 0 0 0 0.059317 0 29 64 MPP2 4355 broad.mit.edu 37 17 41958843 41958843 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:41958843C>A uc010wip.1 - 7 988 c.931G>T c.(931-933)GAT>TAT p.D311Y MPP2_uc002ien.1_Missense_Mutation_p.D283Y|MPP2_uc010wim.1_Missense_Mutation_p.D255Y|MPP2_uc002ieo.1_Missense_Mutation_p.D266Y|MPP2_uc010win.1_Missense_Mutation_p.D127Y|MPP2_uc010wio.1_Missense_Mutation_p.D255Y NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 290 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CAGTTGGCATCATCCTGGTTT 0.627 NaN 1 0 1.30916e-28 0.139131 1.45348e-28 37 75 ACE 1636 broad.mit.edu 37 17 61566090 61566090 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:61566090G>C uc002jau.1 + 16 2409 c.2387G>C c.(2386-2388)AGA>ACA p.R796T ACE_uc002jav.1_Missense_Mutation_p.R222T|ACE_uc010ddv.1_Missense_Mutation_p.R23T|ACE_uc010wpj.1_Missense_Mutation_p.R222T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R106T NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 796 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AAGGCGGGGAGAGCCATCCTC 0.562 NaN 0 0 0 0.064281 0 30 45 HELZ 9931 broad.mit.edu 37 17 65141908 65141908 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:65141908C>T uc010wqk.1 - 21 2910 c.2723G>A c.(2722-2724)GGA>GAA p.G908E HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G907E NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACATCTTCTCCTCGTGCTGT 0.378 NaN 0 0 0 0.047766 0 8 38 KCNJ2 3759 broad.mit.edu 37 17 68171221 68171221 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr17:68171221C>T uc010dfg.2 + 2 442 c.41C>T c.(40-42)TCA>TTA p.S14L KCNJ2_uc002jir.2_Missense_Mutation_p.S14L NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 14 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) ATCGTCTCTTCAGAAGAAGAC 0.517 NaN 0 0 0 0.0918 0 19 22 EPB41L3 23136 broad.mit.edu 37 18 5394743 5394743 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:5394743G>A uc002kmt.1 - 22 3289 c.3203C>T c.(3202-3204)TCA>TTA p.S1068L EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.S846L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S737L|EPB41L3_uc002kms.1_Missense_Mutation_p.S303L|EPB41L3_uc010wze.1_Missense_Mutation_p.S373L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S365L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S340L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S460L NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1068 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTTGGTCACTGACATGTCAGG 0.502 NaN 0 0 0 0.099896 0 24 74 SYT4 6860 broad.mit.edu 37 18 40854029 40854029 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:40854029G>T uc002law.2 - 2 734 c.365C>A c.(364-366)ACC>AAC p.T122N SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.T104N|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 122 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 GAGCTTCGGGGTTGCATTCTC 0.433 NaN 1 0 9.78306e-22 0.144211 1.08189e-21 22 49 CCDC102B 79839 broad.mit.edu 37 18 66504371 66504371 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr18:66504371G>A uc002lkk.2 + 4 594 c.371G>A c.(370-372)AGA>AAA p.R124K CCDC102B_uc002lki.2_Missense_Mutation_p.R124K|CCDC102B_uc002lkj.1_Missense_Mutation_p.R124K NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 124 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AGACAACTCAGAATAAAACTA 0.458 NaN 0 0 0 0.069288 0 18 29 ZNF57 126295 broad.mit.edu 37 19 2917729 2917729 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:2917729G>A uc002lwr.2 + 4 1258 c.1110G>A c.(1108-1110)GGG>GGA p.G370G ZNF57_uc010xha.1_Silent_p.G338G NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 370 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AACAATGTGGGAAAGCCTTCA 0.433 NaN 0 0 0 0.115264 0 3 60 TJP3 27134 broad.mit.edu 37 19 3735874 3735874 + Silent SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:3735874C>G uc010xhv.1 + 9 1167 c.1167C>G c.(1165-1167)CCC>CCG p.P389P TJP3_uc010xhs.1_Silent_p.P356P|TJP3_uc010xht.1_Silent_p.P320P|TJP3_uc010xhu.1_Silent_p.P365P|TJP3_uc010xhw.1_Silent_p.P375P NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 370 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAGTTGCCCAGGGAAAGCA 0.512 NaN 0 0 0 0.139131 0 40 92 DNMT1 1786 broad.mit.edu 37 19 10270402 10270402 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:10270402G>C uc002mng.2 - 16 1344 c.1164C>G c.(1162-1164)ATC>ATG p.I388M DNMT1_uc010xlc.1_Missense_Mutation_p.I404M|DNMT1_uc002mnh.2_Missense_Mutation_p.I283M|DNMT1_uc010xld.1_Missense_Mutation_p.I388M NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 388 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TGGCATCAAAGATGGACAGCT 0.537 NaN 0 0 0 0.049695 0 18 60 ZNF491 126069 broad.mit.edu 37 19 11916930 11916930 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:11916930G>C uc002mso.1 + 3 447 c.162G>C c.(160-162)AGG>AGC p.R54S NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 54 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCTTTAATAGGAACATCAGAA 0.393 NaN 0 0 0 0.043863 0 16 31 ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:12542283A>G uc002mtu.2 - 4 901 c.703T>C c.(703-705)TCT>CCT p.S235P NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 C2H2-type 4. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 CTGTAAAAAGAAAAGGCTTTA 0.378 NaN 0 0 0 0.058154 0 7 133 ZNF443 10224 broad.mit.edu 37 19 12542302 12542302 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:12542302C>T uc002mtu.2 - 4 882 c.684G>A c.(682-684)AAG>AAA p.K228K NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 228 C2H2-type 4. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TAGAACACTGCTTACATTCAT 0.373 NaN 0 0 0 0.02938 0 6 123 ZNF737 100129842 broad.mit.edu 37 19 20727612 20727612 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:20727612G>C uc002npa.2 - 4 1577 c.1397C>G c.(1396-1398)TCA>TGA p.S466* NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 466 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AGTAAGGTGTGAGGACGAGTT 0.413 NaN 0 0 0 0.064281 0 31 54 SPRED3 399473 broad.mit.edu 37 19 38881044 38881044 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:38881044C>T uc002oim.2 + 1 106 c.102C>T c.(100-102)GTC>GTT p.V34V GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Silent_p.V34V NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 34 WH1. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGTCGGGTCCGAGGGGCCA 0.731 NaN 0 0 0 0.009096 0 4 8 SERTAD1 29950 broad.mit.edu 37 19 40928872 40928872 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:40928872G>C uc002ont.3 - 2 741 c.582C>G c.(580-582)CTC>CTG p.L194L NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 194 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCCTGGTTTGAGGCCCTCAG 0.582 NaN 0 0 0 0.009096 0 4 6 CYP2B6 1555 broad.mit.edu 37 19 41518309 41518309 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:41518309G>C uc002opr.1 + 7 1078 c.1071G>C c.(1069-1071)CAG>CAC p.Q357H CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.Q157H NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 357 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ATGAGATTCAGAGATTTTCCG 0.537 NaN 0 0 0 0.045705 0 26 45 C19orf73 55150 broad.mit.edu 37 19 49622031 49622031 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:49622031G>A uc002pmq.3 - 1 367 c.249C>T c.(247-249)TCC>TCT p.S83S PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank NM_018111 NP_060581 Q9NVV2 CS073_HUMAN hypothetical protein LOC55150 83 large_intestine(1) 1 AAACGCAGCCGGAGCCAGTGG 0.657 NaN 0 0 0 0.009096 0 3 83 KLK6 5653 broad.mit.edu 37 19 51470539 51470539 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:51470539C>T uc002pui.2 - 4 343 c.83G>A c.(82-84)TGC>TAC p.C28Y KLK6_uc010eoj.2_Missense_Mutation_p.C28Y|KLK6_uc002puh.2_Missense_Mutation_p.C37Y|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.C28Y|KLK6_uc002pum.2_Intron NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 28 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TGTCTTGTCGCAGGGTCCGCC 0.587 NaN 0 0 0 0.105934 0 10 25 ZNF845 91664 broad.mit.edu 37 19 53855196 53855196 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:53855196T>C uc010ydv.1 + 4 1385 c.1268T>C c.(1267-1269)ATG>ACG p.M423T ZNF845_uc010ydw.1_Missense_Mutation_p.M423T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 423 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGTCAGATGTCATCCCTT 0.408 NaN 0 0 0 0.058154 0 5 171 ZNF761 388561 broad.mit.edu 37 19 53958360 53958360 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:53958360C>A uc010eqp.2 + 7 1057 c.599C>A c.(598-600)TCA>TAA p.S200* ZNF761_uc010ydy.1_Nonsense_Mutation_p.S146*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.S146* NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S146*(1) ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TGGAATTCTTCATTACTCACA 0.373 NaN 1 0 2.46105e-21 0.045705 2.711e-21 31 62 LILRA3 11026 broad.mit.edu 37 19 54803053 54803053 + Nonsense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:54803053C>T uc002qfd.2 - 4 689 c.624G>A c.(622-624)TGG>TGA p.W208* LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 208 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGTAGAGACCACACATAGG 0.617 NaN 0 0 0 0.064281 0 30 27 NLRP2 55655 broad.mit.edu 37 19 55494608 55494608 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:55494608C>G uc002qij.2 + 6 1628 c.1542C>G c.(1540-1542)TTC>TTG p.F514L NLRP2_uc010yfp.1_Missense_Mutation_p.F491L|NLRP2_uc010esn.2_Missense_Mutation_p.F490L|NLRP2_uc010eso.2_Missense_Mutation_p.F511L|NLRP2_uc010esp.2_Missense_Mutation_p.F492L NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 514 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTGCCCTGTTCTACACCCTGG 0.562 NaN 0 0 0 0.080422 0 31 49 A1BG 1 broad.mit.edu 37 19 58863655 58863655 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr19:58863655C>G uc002qsd.3 - 4 669 c.607G>C c.(607-609)GAG>CAG p.E203Q NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 203 Ig-like V-type 2. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TCACCGAGCTCCTCAATGGTC 0.607 NaN 0 0 0 0.069288 0 19 38 NTSR2 23620 broad.mit.edu 37 2 11802346 11802346 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:11802346G>A uc002rbq.3 - 2 719 c.645C>T c.(643-645)TTC>TTT p.F215F NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 215 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AGGGGAGCACGAAGGACACCA 0.642 NaN 0 0 0 0.058154 0 8 141 CAPN13 92291 broad.mit.edu 37 2 30976054 30976054 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:30976054G>C uc002rnn.2 - 10 1128 c.952C>G c.(952-954)CAA>GAA p.Q318E CAPN13_uc002rnp.1_Missense_Mutation_p.Q318E NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 318 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGGAAATCTTGACACGACATC 0.453 NaN 0 0 0 0.099896 0 21 45 PRKD3 23683 broad.mit.edu 37 2 37481367 37481367 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:37481367G>A uc002rqd.2 - 17 3034 c.2479C>T c.(2479-2481)CTT>TTT p.L827F NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 827 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) GGATGACTAAGAGATTTGTCA 0.368 NaN 0 0 0 0.108266 0 23 30 THUMPD2 80745 broad.mit.edu 37 2 39964112 39964112 + Silent SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:39964112A>T uc002rru.2 - 10 1312 c.1275T>A c.(1273-1275)CCT>CCA p.P425P THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Silent_p.P316P NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 425 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) TGGAATTGAAAGGGATGTTGC 0.418 NaN 0 0 0 0.059317 0 36 62 SPTBN1 6711 broad.mit.edu 37 2 54895611 54895611 + Missense_Mutation SNP G G C rs150630405 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:54895611G>C uc002rxu.2 + 36 7249 c.7000G>C c.(7000-7002)GTC>CTC p.V2334L SPTBN1_uc010you.1_Missense_Mutation_p.V324L NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2334 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CACCAGCGTCGTCACCATCAC 0.567 NaN 0 0 0 0.054565 0 24 28 CD207 50489 broad.mit.edu 37 2 71060100 71060100 + Nonsense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:71060100C>T uc002shg.2 - 4 695 c.648G>A c.(646-648)TGG>TGA p.W216* NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 216 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 CGGCACTATACCAGGTCTTTG 0.478 NaN 0 0 0 0.146539 0 15 36 MOGS 7841 broad.mit.edu 37 2 74691751 74691751 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:74691751G>A uc010ffj.2 - 2 614 c.451C>T c.(451-453)CAC>TAC p.H151Y MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.H32Y|MOGS_uc010ffi.2_Missense_Mutation_p.H45Y|MOGS_uc010yru.1_Intron NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 151 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AGGCCGTCGTGGAACTCCCAG 0.652 NaN 0 0 0 0.09836 0 33 55 C2orf65 130951 broad.mit.edu 37 2 74842183 74842183 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:74842183G>A uc002smy.2 - 3 451 c.334C>T c.(334-336)CTG>TTG p.L112L C2orf65_uc010ysa.1_Silent_p.L112L|C2orf65_uc002smz.2_Silent_p.L112L NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 112 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 GCCAGCCGCAGAGAAGCACCT 0.507 NaN 0 0 0 0.104719 0 32 87 LYG2 254773 broad.mit.edu 37 2 99861855 99861855 + Missense_Mutation SNP A A T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:99861855A>T uc002szw.1 - 4 364 c.251T>A c.(250-252)ATC>AAC p.I84N MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.I84N|LYG2_uc002szx.1_Missense_Mutation_p.I84N NM_175735 NP_783862 Q86SG7 LYG2_HUMAN lysozyme G-like 2 precursor 84 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity ovary(1) 1 GACTTCTTTGATCAGAGTCTG 0.483 NaN 0 0 0 0.146539 0 14 44 WDR33 55339 broad.mit.edu 37 2 128477268 128477268 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:128477268C>A uc002tpg.1 - 16 2514 c.2331G>T c.(2329-2331)ATG>ATT p.M777I NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 777 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GATTCAATCCCATCAGAGGTC 0.602 NaN 1 0 0.00909568 0.009096 0.00916065 4 9 TTN 7273 broad.mit.edu 37 2 179432361 179432361 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:179432361C>G uc010zfg.1 - 275 71018 c.70794G>C c.(70792-70794)AAG>AAC p.K23598N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17293N|TTN_uc010zfi.1_Missense_Mutation_p.K17226N|TTN_uc010zfj.1_Missense_Mutation_p.K17101N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24525 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) CAGCTGCATTCTTTGCAATGA 0.388 NaN 0 0 0 0.076483 0 16 44 TTN 7273 broad.mit.edu 37 2 179497730 179497730 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:179497730G>A uc010zfg.1 - 183 35648 c.35424C>T c.(35422-35424)ATC>ATT p.I11808I TTN_uc010zfh.1_Silent_p.I5503I|TTN_uc010zfi.1_Silent_p.I5436I|TTN_uc010zfj.1_Silent_p.I5311I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12735 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) AGTTATGAAGGATCAGAATAT 0.408 NaN 0 0 0 0.069288 0 20 19 TRAK2 66008 broad.mit.edu 37 2 202264201 202264201 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:202264201C>T uc002uyb.3 - 5 825 c.379G>A c.(379-381)GAA>AAA p.E127K TRAK2_uc002uyc.2_Missense_Mutation_p.E127K NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 127 early endosome|plasma membrane GABA receptor binding 0 GCAGCGAGTTCCAGATCACGA 0.413 NaN 0 0 0 0.0333 0 12 51 COL4A4 1286 broad.mit.edu 37 2 227924258 227924258 + Nonsense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:227924258G>T uc010zlt.1 - 28 2900 c.2246C>A c.(2245-2247)TCA>TAA p.S749* NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 749 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CACTCCTGGTGAGCCGGGAGG 0.552 NaN 1 0 2.37509e-13 0.055883 2.5564e-13 18 55 TRIP12 9320 broad.mit.edu 37 2 230723895 230723895 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:230723895G>C uc002vpw.1 - 3 603 c.494C>G c.(493-495)TCA>TGA p.S165* TRIP12_uc002vpx.1_Nonsense_Mutation_p.S207*|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Nonsense_Mutation_p.S165* NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 165 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGCACCAGTTGATTCAGACCC 0.502 NaN 0 0 0 0.055883 0 20 11 SP100 6672 broad.mit.edu 37 2 231308897 231308897 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:231308897C>T uc002vqt.2 + 4 416 c.275C>T c.(274-276)TCT>TTT p.S92F SP100_uc002vqs.2_Missense_Mutation_p.S92F|SP100_uc002vqu.1_Missense_Mutation_p.S92F|SP100_uc010zmb.1_Missense_Mutation_p.S92F|SP100_uc002vqq.1_Missense_Mutation_p.S92F|SP100_uc002vqr.1_Missense_Mutation_p.S67F|SP100_uc010zmc.1_Missense_Mutation_p.S67F|SP100_uc002vqv.1_Missense_Mutation_p.S56F NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 92 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TTTAAGGATTCTCAAGATTCT 0.363 NaN 0 0 0 0.146539 0 14 24 KIF1A 547 broad.mit.edu 37 2 241710491 241710491 + Nonsense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:241710491G>C uc002vzy.2 - 14 1357 c.1211C>G c.(1210-1212)TCA>TGA p.S404* KIF1A_uc010fzk.2_Nonsense_Mutation_p.S413*|KIF1A_uc002vzz.1_Nonsense_Mutation_p.S413* NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 404 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GAGCGAGGATGAGGGGCTCAT 0.617 NaN 0 0 0 0.132662 0 13 40 NEU4 129807 broad.mit.edu 37 2 242757402 242757402 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr2:242757402C>T uc010fzr.2 + 4 569 c.483C>T c.(481-483)CCC>CCT p.P161P NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.P161P|NEU4_uc002wcn.1_Silent_p.P173P|NEU4_uc002wco.1_Silent_p.P161P|NEU4_uc002wcp.1_Silent_p.P173P NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 161 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CTGTGGGTCCCGGCCACGGCG 0.706 NaN 0 0 0 0.069234 0 9 6 JAG1 182 broad.mit.edu 37 20 10621880 10621880 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:10621880C>G uc002wnw.2 - 24 3445 c.2929G>C c.(2929-2931)GAG>CAG p.E977Q NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 977 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 CAAATGTGCTCCGTAGTAAGA 0.408 NaN Alagille_Syndrome 0 0 0 0.014758 0 4 62 FOXA2 3170 broad.mit.edu 37 20 22563496 22563496 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:22563496G>T uc002wsn.2 - 3 556 c.366C>A c.(364-366)GGC>GGA p.G122G FOXA2_uc002wsm.2_Silent_p.G128G NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 122 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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 ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) GGGCCAGGCCGCCCATGGCCC 0.756 NaN 1 0 0.00024832 0.009096 0.00025557 4 19 CHD6 84181 broad.mit.edu 37 20 40050336 40050336 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:40050336G>C uc002xka.1 - 31 5117 c.4939C>G c.(4939-4941)CAA>GAA p.Q1647E NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1647 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CTACTCATTTGAGAATATGTA 0.423 NaN 0 0 0 0.105934 0 12 26 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:43837052C>A uc002xni.2 + 2 1171 c.1114C>A c.(1114-1116)CGC>AGC p.R372S SEMG1_uc002xnj.2_Missense_Mutation_p.R312S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 372 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418 NaN 1 0 0.00024832 0.009096 0.00025557 4 58 BTG3 10950 broad.mit.edu 37 21 18977218 18977218 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:18977218C>A uc002ykk.2 - 3 531 c.271G>T c.(271-273)GAG>TAG p.E91* BTG3_uc002ykl.2_Nonsense_Mutation_p.E91* NM_006806 NP_006797 Q14201 BTG3_HUMAN B-cell translocation gene 3 isoform b 91 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm 0 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) AGAGTGAGCTCCTTTGGCAAG 0.448 NaN 1 0 2.39187e-15 0.049695 2.59426e-15 19 26 GABPA 2551 broad.mit.edu 37 21 27130452 27130452 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:27130452G>T uc002ylx.3 + 6 1212 c.685G>T c.(685-687)GAT>TAT p.D229Y GABPA_uc002yly.3_Missense_Mutation_p.D229Y NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 229 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 CAACCAAGAAGATTTTTTTCA 0.398 NaN 1 0 8.10497e-08 0.055883 8.49666e-08 16 42 AGPAT3 56894 broad.mit.edu 37 21 45387862 45387862 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:45387862G>C uc002zdv.2 + 4 436 c.214G>C c.(214-216)GAG>CAG p.E72Q AGPAT3_uc002zdw.2_Missense_Mutation_p.E72Q|AGPAT3_uc002zdx.2_Missense_Mutation_p.E159Q|AGPAT3_uc002zdy.2_Missense_Mutation_p.E10Q NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 72 Cytoplasmic (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GTCCTGCACGGAGTGTACACT 0.612 NaN 0 0 0 0.047766 0 8 26 KRTAP10-3 386682 broad.mit.edu 37 21 45978005 45978005 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr21:45978005G>C uc002zfj.1 - 1 639 c.594C>G c.(592-594)CTC>CTG p.L198L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 198 18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 TGGGGCGGCAGAGGAGGGACA 0.692 NaN 0 0 0 0.02938 0 7 32 MED15 51586 broad.mit.edu 37 22 20909408 20909408 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:20909408G>T uc002zsp.2 + 5 504 c.424G>T c.(424-426)GCT>TCT p.A142S MED15_uc002zsn.1_Missense_Mutation_p.A61S|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.A142S|MED15_uc010gso.2_Missense_Mutation_p.A142S|MED15_uc002zsr.2_Missense_Mutation_p.A116S|MED15_uc011ahs.1_Missense_Mutation_p.A116S|MED15_uc011aht.1_Missense_Mutation_p.A116S|MED15_uc002zss.2_Missense_Mutation_p.A61S NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 142 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCACAGCATGGCTGTCGTGTC 0.567 NaN 1 0 2.56e-06 0.009096 2.65412e-06 3 6 SLC7A4 6545 broad.mit.edu 37 22 21384120 21384120 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:21384120C>T uc002zud.2 - 3 1571 c.1503G>A c.(1501-1503)TCG>TCA p.S501S SLC7A4_uc002zue.2_Silent_p.S501S NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 501 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGTGCAGGGTCGAGTTCCCAA 0.582 NaN 0 0 0 0.021553 0 6 25 HPS4 89781 broad.mit.edu 37 22 26860275 26860275 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:26860275C>G uc003acl.2 - 11 1980 c.1321G>C c.(1321-1323)GAG>CAG p.E441Q HPS4_uc003aci.2_Missense_Mutation_p.E436Q|HPS4_uc003acj.2_Missense_Mutation_p.E305Q|HPS4_uc003ack.2_Missense_Mutation_p.E232Q|HPS4_uc003acn.2_Missense_Mutation_p.E287Q|HPS4_uc010gvd.1_Missense_Mutation_p.E459Q|HPS4_uc003ach.2_Missense_Mutation_p.E176Q NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 441 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TCGAGCTGCTCTTGGGCTCCA 0.632 NaN Hermansky-Pudlak_syndrome 0 0 0 0.144211 0 27 79 MORC2 22880 broad.mit.edu 37 22 31332626 31332626 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:31332626C>G uc003aje.1 - 18 2787 c.1423G>C c.(1423-1425)GAG>CAG p.E475Q NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 537 CW-type. ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 TCAGAAGCCTCACACCTGTAG 0.493 NaN 0 0 0 0.139131 0 40 44 CELSR1 9620 broad.mit.edu 37 22 46787591 46787591 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:46787591G>A uc003bhw.1 - 15 6087 c.6087C>T c.(6085-6087)ATC>ATT p.I2029I CELSR1_uc011arc.1_Silent_p.I350I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2029 Extracellular (Potential).|Laminin EGF-like. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACTGGCGGCCGATGACGCCGG 0.682 NaN 0 0 0 0.021553 0 4 21 TUBGCP6 85378 broad.mit.edu 37 22 50659293 50659293 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr22:50659293G>A uc003bkb.1 - 16 4007 c.3495C>T c.(3493-3495)TCC>TCT p.S1165S TUBGCP6_uc003bka.1_Silent_p.S252S|TUBGCP6_uc010har.1_Silent_p.S1157S|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1165 9 X 27 AA tandem repeats.|6. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCGGACACGTGTC 0.637 NaN 0 0 0 0.021553 0 4 103 TGFBR2 7048 broad.mit.edu 37 3 30713543 30713543 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:30713543G>A uc003ceo.2 + 4 1250 c.868G>A c.(868-870)GAG>AAG p.E290K TGFBR2_uc003cen.2_Missense_Mutation_p.E315K NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 290 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 TTGGAAGACAGAGAAGGACAT 0.483 NaN 0 0 0 0.139131 0 61 15 ULK4 54986 broad.mit.edu 37 3 41746766 41746766 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:41746766G>A uc003ckv.3 - 26 2867 c.2666C>T c.(2665-2667)ACG>ATG p.T889M NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 889 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATCTATGTTCGTTTCTCCTGA 0.294 NaN 0 0 0 0.139131 0 40 10 LRRC2 79442 broad.mit.edu 37 3 46592976 46592976 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:46592976C>G uc010hji.2 - 2 470 c.106G>C c.(106-108)GAG>CAG p.E36Q LRRC2_uc003cpu.3_Missense_Mutation_p.E36Q NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 36 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GCGCTCTTCTCAAGCCTTTCC 0.468 NaN 0 0 0 0.139131 0 54 23 ARIH2 10425 broad.mit.edu 37 3 49012253 49012253 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:49012253C>T uc003cvb.2 + 10 1204 c.892C>T c.(892-894)CCC>TCC p.P298S ARIH2_uc003cvc.2_Missense_Mutation_p.P298S|ARIH2_uc003cvf.2_Missense_Mutation_p.P216S|ARIH2_uc010hkl.2_Missense_Mutation_p.P298S NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 298 RING-type 2. developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P298P(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCCTCAGTGTCCCAAGTGCAA 0.498 NaN 0 0 0 0.139131 0 42 8 CBLB 868 broad.mit.edu 37 3 105377858 105377858 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:105377858C>T uc003dwc.2 - 19 3227 c.2905G>A c.(2905-2907)GAA>AAA p.E969K CBLB_uc003dwa.2_Missense_Mutation_p.E184K|CBLB_uc011bhi.1_Missense_Mutation_p.E947K NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 969 UBA. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 AAGGCAAATTCTCGGAGGATG 0.468 NaN Mis S AML 0 0 0 0.125774 0 30 45 VEPH1 79674 broad.mit.edu 37 3 157082155 157082155 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:157082155G>C uc003fbj.1 - 8 1591 c.1274C>G c.(1273-1275)TCT>TGT p.S425C VEPH1_uc003fbk.1_Missense_Mutation_p.S425C|VEPH1_uc010hvu.1_Missense_Mutation_p.S425C NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 425 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCTTCTGATAGAGCCAGGGGT 0.348 NaN 0 0 0 0.080935 0 10 42 PIK3CA 5290 broad.mit.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr3:178922324G>A uc003fjk.2 + 6 1250 c.1093G>A c.(1093-1095)GAA>AAA p.E365K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 365 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E365K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCATGGAGGAGAACCCTTATG 0.343 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.139131 0 58 62 HTT 3064 broad.mit.edu 37 4 3142363 3142363 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:3142363C>G uc011bvq.1 + 23 3076 c.2931C>G c.(2929-2931)TTC>TTG p.F977L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 975 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CATCTCATTTCTCCGTCAGCA 0.473 NaN 0 0 0 0.115264 0 3 62 WFS1 7466 broad.mit.edu 37 4 6302887 6302887 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:6302887G>A uc003giy.2 + 8 1531 c.1365G>A c.(1363-1365)ACG>ACA p.T455T WFS1_uc003gix.2_Silent_p.T455T|WFS1_uc003giz.2_Silent_p.T273T NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 455 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) AGCCCTACACGCGCAGGGCCC 0.637 NaN 0 0 0 0.116897 0 22 55 ZNF518B 85460 broad.mit.edu 37 4 10446215 10446215 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:10446215G>A uc003gmn.2 - 3 2225 c.1738C>T c.(1738-1740)CAC>TAC p.H580Y NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 ACTGCCTTGTGTTCCTCTGTC 0.393 NaN 0 0 0 0.064281 0 30 47 N4BP2 55728 broad.mit.edu 37 4 40104376 40104376 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:40104376G>A uc003guy.3 + 4 1249 c.911G>A c.(910-912)GGT>GAT p.G304D N4BP2_uc010ifq.2_Missense_Mutation_p.G224D|N4BP2_uc010ifr.2_Missense_Mutation_p.G224D NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 304 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GATTTACCAGGTACAGGTGGG 0.473 NaN 0 0 0 0.108266 0 22 51 CNOT6L 246175 broad.mit.edu 37 4 78650191 78650191 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78650191C>T uc011ccd.1 - 10 1200 c.1069G>A c.(1069-1071)GCA>ACA p.A357T CNOT6L_uc003hks.2_Missense_Mutation_p.A357T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A200T NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 357 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding p.V357I(1) large_intestine(1) 1 TGGGCATTTGCCACTATAAGC 0.388 NaN 0 0 0 0.050027 0 23 61 CNOT6L 246175 broad.mit.edu 37 4 78650194 78650194 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78650194C>G uc011ccd.1 - 10 1197 c.1066G>C c.(1066-1068)GTG>CTG p.V356L CNOT6L_uc003hks.2_Missense_Mutation_p.V356L|CNOT6L_uc003hkt.1_Missense_Mutation_p.V199L NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 356 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 GCATTTGCCACTATAAGCAGC 0.388 NaN 0 0 0 0.045705 0 22 60 MRPL1 65008 broad.mit.edu 37 4 78815330 78815330 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:78815330C>G uc003hku.2 + 6 794 c.596C>G c.(595-597)GCT>GGT p.A199G MRPL1_uc010iji.1_Missense_Mutation_p.A122G NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 199 RNA binding 0 TTTTACGTAGCTGTTCCAGAA 0.308 NaN 0 0 0 0.139131 0 37 75 AIMP1 9255 broad.mit.edu 37 4 107268795 107268795 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:107268795G>A uc011cfg.1 + 7 937 c.885G>A c.(883-885)GTG>GTA p.V295V AIMP1_uc003hyg.2_Silent_p.V295V|AIMP1_uc003hyh.2_Silent_p.V319V NM_001142415 NP_001135887 Q12904 AIMP1_HUMAN small inducible cytokine subfamily E, member 1 295 angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding 0 CCTTTGAGGTGAAAGGGAAGG 0.413 NaN 0 0 0 0.021553 0 4 44 KIAA1109 84162 broad.mit.edu 37 4 123161005 123161005 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:123161005G>A uc003ieh.2 + 27 4213 c.4168G>A c.(4168-4170)GAT>AAT p.D1390N KIAA1109_uc003iei.1_Missense_Mutation_p.D1143N|KIAA1109_uc010ins.1_Missense_Mutation_p.D733N|KIAA1109_uc003iek.2_Missense_Mutation_p.D9N NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1390 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTCAATGGCTGATAGTGAAGC 0.418 NaN 0 0 0 0.069288 0 19 33 NPY2R 4887 broad.mit.edu 37 4 156135697 156135697 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:156135697C>T uc003ioq.2 + 2 1101 c.606C>T c.(604-606)GCC>GCT p.A202A NPY2R_uc003ior.2_Silent_p.A202A NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 202 Extracellular (Potential). A -> P (in Ref. 4; AAB07760). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) AGATTGTGGCCTGTACTGAAA 0.507 NaN 0 0 0 0.058154 0 8 129 ZFP42 132625 broad.mit.edu 37 4 188924685 188924685 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr4:188924685G>A uc003izg.1 + 3 969 c.724G>A c.(724-726)GAG>AAG p.E242K ZFP42_uc003izh.1_Missense_Mutation_p.E242K|ZFP42_uc003izi.1_Missense_Mutation_p.E242K NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 242 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCATACTGGAGAGAAGCCGTT 0.512 NaN 0 0 0 0.0333 0 15 27 TRIM23 373 broad.mit.edu 37 5 64892995 64892995 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:64892995G>C uc003jty.2 - 8 1278 c.1192C>G c.(1192-1194)CAC>GAC p.H398D TRIM23_uc003jtw.2_Missense_Mutation_p.H398D|TRIM23_uc003jtx.2_Missense_Mutation_p.H398D NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 398 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) GGTCCAATGTGAACTCGATTA 0.318 NaN 0 0 0 0.139131 0 49 57 MSH3 4437 broad.mit.edu 37 5 79950579 79950579 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:79950579C>T uc003kgz.2 + 1 286 c.33C>T c.(31-33)CTC>CTT p.L11L DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.A59A|DHFR_uc003kgy.1_5'UTR NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 11 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CGGGCGGCCTCGCTGCCTCCA 0.697 NaN MMR 0 0 0 0.105934 0 9 25 SNCAIP 9627 broad.mit.edu 37 5 121767723 121767723 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:121767723G>A uc003ksw.1 + 6 1448 c.1242G>A c.(1240-1242)CTG>CTA p.L414L SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Silent_p.L414L|SNCAIP_uc003ksx.1_Silent_p.L461L|SNCAIP_uc003ksy.1_Silent_p.L48L|SNCAIP_uc003ksz.1_Silent_p.L48L|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Silent_p.L48L|SNCAIP_uc003kta.1_Silent_p.L46L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L108L|SNCAIP_uc010jcx.1_Silent_p.L354L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 414 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTGCAGAACTGAGTTGTTCTA 0.403 NaN 0 0 0 0.086207 0 30 17 PCDHB8 56128 broad.mit.edu 37 5 140558309 140558309 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140558309G>A uc011dai.1 + 1 880 c.694G>A c.(694-696)GAA>AAA p.E232K PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 232 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTACATTGAAGTTGTCGA 0.507 NaN 0 0 0 0.124865 0 35 29 PCDHB11 56125 broad.mit.edu 37 5 140581588 140581588 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140581588G>T uc003liy.2 + 1 2241 c.2241G>T c.(2239-2241)CAG>CAT p.Q747H PCDHB11_uc011daj.1_Missense_Mutation_p.Q382H NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 747 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTTTCCCAGAGCTACCAGT 0.582 NaN 1 0 2.18481e-45 0.139131 2.43524e-45 69 93 PCDHGA10 56106 broad.mit.edu 37 5 140793016 140793016 + Missense_Mutation SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:140793016G>T uc003lkl.1 + 1 274 c.274G>T c.(274-276)GGC>TGC p.G92C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G92C NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 92 Cadherin 1.|Extracellular (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) GATCACCGCGGGCAGGATAGA 0.602 NaN 1 0 3.19467e-53 0.139131 3.57498e-53 62 58 RBM27 54439 broad.mit.edu 37 5 145609388 145609388 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:145609388G>C uc003lnz.3 + 5 670 c.504G>C c.(502-504)AAG>AAC p.K168N RBM27_uc003lny.2_Missense_Mutation_p.K168N NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 168 Arg-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAggagtaagagtcggagta 0.428 NaN 0 0 0 0.124865 0 38 57 SPINK5 11005 broad.mit.edu 37 5 147475436 147475436 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:147475436G>A uc003lox.2 + 10 923 c.850G>A c.(850-852)GAA>AAA p.E284K SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.E256K|SPINK5_uc010jgr.2_Missense_Mutation_p.E265K|SPINK5_uc003low.2_Missense_Mutation_p.E284K|SPINK5_uc003loy.2_Missense_Mutation_p.E284K NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 284 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAAAGCTGAAGAAAAAAC 0.373 NaN 0 0 0 0.124865 0 35 30 DOCK2 1794 broad.mit.edu 37 5 169461533 169461533 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:169461533C>T uc003maf.2 + 35 3678 c.3598C>T c.(3598-3600)CGC>TGC p.R1200C DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R692C NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1200 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAAAGACAACCGCATGAGCTG 0.592 NaN 0 0 0 0.083992 0 19 46 KCNIP1 30820 broad.mit.edu 37 5 170145787 170145787 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:170145787G>A uc003mas.2 + 3 649 c.120G>A c.(118-120)ATG>ATA p.M40I KCNIP1_uc003map.2_Missense_Mutation_p.M38I|KCNIP1_uc003mat.2_Missense_Mutation_p.M29I|KCNIP1_uc010jjp.2_Missense_Mutation_p.M1I|KCNIP1_uc010jjq.2_Missense_Mutation_p.M29I NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 40 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTGGAGATGACCATGGTTT 0.512 NaN 0 0 0 0.0333 0 13 23 RGS14 10636 broad.mit.edu 37 5 176794807 176794807 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:176794807C>T uc003mgf.2 + 7 902 c.720C>T c.(718-720)CTC>CTT p.L240L RGS14_uc003mgg.1_Silent_p.L87L|RGS14_uc003mgh.2_Silent_p.L87L|RGS14_uc003mgi.2_5'UTR NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 240 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGCCCTCTCCGCAAGTCCT 0.652 NaN 0 0 0 0.11911 0 11 8 DBN1 1627 broad.mit.edu 37 5 176895189 176895189 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr5:176895189C>G uc003mgy.2 - 3 347 c.175G>C c.(175-177)GAG>CAG p.E59Q DBN1_uc003mgx.2_Missense_Mutation_p.E61Q|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_5'UTR NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 59 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGGTTCTCAAAGTGTCCC 0.552 NaN 0 0 0 0.139131 0 107 118 DEK 7913 broad.mit.edu 37 6 18264194 18264194 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:18264194C>T uc003ncr.1 - 2 218 c.25G>A c.(25-27)GAG>AAG p.E9K DEK_uc011djf.1_Missense_Mutation_p.E9K|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 9 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCTCCCCCTCCGCAGCAGGG 0.562 NaN T NUP214 AML 0 0 0 0.076483 0 18 29 PRSS16 10279 broad.mit.edu 37 6 27219016 27219016 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:27219016G>A uc003nja.2 + 7 702 c.690G>A c.(688-690)ATG>ATA p.M230I PRSS16_uc011dkt.1_Intron|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc003njd.2_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 230 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 GAAGCCTAATGAGCACCGCGA 0.672 NaN 0 0 0 0.104719 0 29 28 HIST1H2BL 8340 broad.mit.edu 37 6 27775577 27775577 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:27775577C>T uc003njl.2 - 1 133 c.108G>A c.(106-108)GAG>GAA p.E36E HIST1H3H_uc003njm.2_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 36 nucleosome assembly nucleosome|nucleus DNA binding 0 CGGAGTAGCTCTCCTTGCGGC 0.587 NaN 0 0 0 0.139131 0 77 191 OR14J1 442191 broad.mit.edu 37 6 29274779 29274779 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:29274779C>T uc011dln.1 + 1 313 c.313C>T c.(313-315)CTG>TTG p.L105L NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTCATAGCTCTGGCCTCATC 0.453 NaN 0 0 0 0.139131 0 47 43 ZFP57 346171 broad.mit.edu 37 6 29640988 29640988 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:29640988G>A uc011dlw.1 - 4 1051 c.900C>T c.(898-900)ACC>ACT p.T300T ZFP57_uc003nnl.3_Silent_p.T280T NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 216 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 ATTCAGCCTGGGTGCCTGGAA 0.557 NaN 0 0 0 0.139131 0 103 23 MUC21 394263 broad.mit.edu 37 6 30954960 30954960 + Silent SNP C C T rs41288683 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:30954960C>T uc003nsh.2 + 2 1259 c.1008C>T c.(1006-1008)AGC>AGT p.S336S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 336 Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 CTGAGTCCAGCACGACCTCCA 0.627 NaN 0 0 0 0.069288 0 6 169 BACH2 60468 broad.mit.edu 37 6 90647890 90647890 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:90647890C>T uc011eab.1 - 8 2825 c.2016G>A c.(2014-2016)CAG>CAA p.Q672Q BACH2_uc003pnw.2_Silent_p.Q672Q NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 672 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ATTCTAAATTCTGAATACAGT 0.458 NaN 0 0 0 0.139131 0 58 19 ZBTB24 9841 broad.mit.edu 37 6 109803198 109803198 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:109803198T>C uc003ptl.1 - 2 200 c.32A>G c.(31-33)CAG>CGG p.Q11R ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q11R|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.Q11R NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 11 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TACAACAAGCTGCCCAGAAGG 0.443 NaN 0 0 0 0.080422 0 29 13 FYN 2534 broad.mit.edu 37 6 111983077 111983077 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:111983077G>A uc003pvj.2 - 13 1819 c.1479C>T c.(1477-1479)ATC>ATT p.I493I FYN_uc003pvi.2_Silent_p.I438I|FYN_uc003pvk.2_Silent_p.I493I|FYN_uc003pvh.2_Silent_p.I490I NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 493 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CATGCAGAGAGATGGGGCAGT 0.567 NaN 0 0 0 0.139131 0 82 47 SYNE1 23345 broad.mit.edu 37 6 152737694 152737694 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:152737694C>G uc010kiw.2 - 41 6480 c.5878G>C c.(5878-5880)GAG>CAG p.E1960Q SYNE1_uc003qot.3_Missense_Mutation_p.E1967Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1960Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1943Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1960 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGATCCTCTCTACCTCTCCA 0.502 NaN HNSCC(10;0.0054) 0 0 0 0.02938 0 6 95 RBM16 22828 broad.mit.edu 37 6 155154524 155154524 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:155154524A>G uc003qqa.2 + 21 4043 c.3811A>G c.(3811-3813)ACA>GCA p.T1271A TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.T1337A|RBM16_uc011efk.1_Missense_Mutation_p.T1316A|RBM16_uc003qpz.2_Missense_Mutation_p.T1271A NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 1271 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) AACTGAGGGGACATAATCATC 0.373 NaN 0 0 0 0.09836 0 35 22 TULP4 56995 broad.mit.edu 37 6 158922867 158922867 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:158922867G>A uc003qrf.2 + 13 3529 c.2172G>A c.(2170-2172)CTG>CTA p.L724L TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 724 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TAGATGTCCTGACCAACCAGA 0.567 NaN 0 0 0 0.139131 0 83 34 IGF2R 3482 broad.mit.edu 37 6 160500774 160500774 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr6:160500774G>C uc003qta.2 + 38 5789 c.5641G>C c.(5641-5643)GAA>CAA p.E1881Q NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1881 13.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCACCAGGATGAAGCGGTCGT 0.458 NaN 0 0 0 0.080422 0 29 18 MICALL2 79778 broad.mit.edu 37 7 1481960 1481960 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:1481960G>C uc003skj.3 - 7 1726 c.1579C>G c.(1579-1581)CAG>GAG p.Q527E MICALL2_uc003ski.3_Missense_Mutation_p.Q14E NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 527 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCGGATGCCTGAGAGGTACTG 0.667 NaN 0 0 0 0.139131 0 50 92 IL6 3569 broad.mit.edu 37 7 22768323 22768323 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:22768323G>C uc011jyn.1 + 4 681 c.222G>C c.(220-222)AAG>AAC p.K74N uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.K74N|IL6_uc011jyp.1_5'UTR|IL6_uc003svj.3_Missense_Mutation_p.K74N|IL6_uc011jyq.1_Missense_Mutation_p.K128N NM_000600 NP_000591 P05231 IL6_HUMAN interleukin 6 precursor 74 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding 0 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) CATGTAACAAGAGTAACATGT 0.428 NaN 0 0 0 0.014758 0 5 59 NUPL2 11097 broad.mit.edu 37 7 23239972 23239972 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:23239972G>A uc003svu.2 + 7 1139 c.880G>A c.(880-882)GAA>AAA p.E294K NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.E171K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.E171K|NUPL2_uc011jyx.1_Missense_Mutation_p.E66K NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 294 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TGGGAAGCCTGAAGTCACATC 0.502 NaN 0 0 0 0.047766 0 9 10 ASB4 51666 broad.mit.edu 37 7 95165794 95165794 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:95165794G>A uc011kij.1 + 4 1024 c.1024G>A c.(1024-1026)GTC>ATC p.V342I NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 342 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TGAAGTTGTAGTCAATGCCTA 0.408 NaN 0 0 0 0.146539 0 13 43 SRPK2 6733 broad.mit.edu 37 7 104758350 104758350 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:104758350C>G uc003vct.2 - 15 2189 c.2002G>C c.(2002-2004)GAA>CAA p.E668Q SRPK2_uc003vcu.2_Missense_Mutation_p.E668Q|SRPK2_uc003vcv.2_Missense_Mutation_p.E679Q|uc003vcr.1_5'Flank|SRPK2_uc003vcs.1_RNA NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 668 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GGAACCATTTCTAACATCGGG 0.458 NaN 0 0 0 0.146539 0 14 31 COG5 10466 broad.mit.edu 37 7 106938761 106938761 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:106938761C>T uc003ved.2 - 12 1757 c.1232G>A c.(1231-1233)GGA>GAA p.G411E COG5_uc003vec.2_Missense_Mutation_p.G411E|COG5_uc003vee.2_Missense_Mutation_p.G411E NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 411 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 AGGGTATTCTCCTTCAAATGC 0.323 NaN 0 0 0 0.105934 0 11 26 MKRN1 23608 broad.mit.edu 37 7 140158900 140158900 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:140158900C>T uc003vvt.2 - 4 903 c.678G>A c.(676-678)GAG>GAA p.E226E MKRN1_uc003vvs.2_Silent_p.E162E|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.E226E|MKRN1_uc003vvu.3_Silent_p.E162E NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 226 C3H1-type 3. ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) ACACACAGTTCTCCCCGTATC 0.532 NaN 0 0 0 0.139131 0 43 97 DENND2A 27147 broad.mit.edu 37 7 140273705 140273705 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:140273705G>A uc010lnj.2 - 4 1494 c.1349C>T c.(1348-1350)TCC>TTC p.S450F DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S450F|DENND2A_uc003vvw.2_Missense_Mutation_p.S450F|DENND2A_uc003vvx.2_Missense_Mutation_p.S450F NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 450 ovary(3)|breast(1) 4 Melanoma(164;0.00956) GCTGATTTTGGAAGGGGACCC 0.498 NaN 0 0 0 0.139131 0 42 109 CASP2 835 broad.mit.edu 37 7 142985599 142985599 + Silent SNP G G T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:142985599G>T uc003wco.2 + 1 198 c.51G>T c.(49-51)CTG>CTT p.L17L CASP2_uc003wcp.2_Silent_p.L17L|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_5'Flank NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 17 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) ACAAGGAGCTGATGGCCGCTG 0.682 NaN 1 0 0.00198382 0.02938 0.00201963 4 14 MLL3 58508 broad.mit.edu 37 7 151949045 151949045 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:151949045C>A uc003wla.2 - 11 1819 c.1600G>T c.(1600-1602)GAG>TAG p.E534* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 534 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCAGCTATCTCCACTTCCTCA 0.358 NaN N medulloblastoma 1 0 2.27111e-07 0.09319 2.3633e-07 9 16 VIPR2 7434 broad.mit.edu 37 7 158827298 158827298 + Nonsense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr7:158827298G>A uc003woh.2 - 9 1039 c.853C>T c.(853-855)CGA>TGA p.R285* VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 285 Helical; Name=5; (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) ATCGGTATTCGTATGACCCAC 0.478 NaN 0 0 0 0.062417 0 18 47 UBXN8 7993 broad.mit.edu 37 8 30620854 30620854 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:30620854C>T uc003xii.2 + 9 653 c.636C>T c.(634-636)TAC>TAT p.Y212Y UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA NM_005671 NP_005662 O00124 UBXN8_HUMAN reproduction 8 212 UBX. single fertilization 0 TGAAGTCCTACAGCTCACAGG 0.428 NaN 0 0 0 0.139131 0 35 28 KCNU1 157855 broad.mit.edu 37 8 36642052 36642052 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:36642052C>T uc010lvw.2 + 1 211 c.124C>T c.(124-126)CTG>TTG p.L42L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 42 Helical; Name=Segment S0; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCATCATCCTGTTGATCTT 0.428 NaN 0 0 0 0.069234 0 8 19 GGH 8836 broad.mit.edu 37 8 63939794 63939794 + Silent SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:63939794G>C uc003xuw.2 - 4 589 c.306C>G c.(304-306)CTC>CTG p.L102L NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 102 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) CTGAGCGTCTGAGGTCAACAC 0.383 NaN 0 0 0 0.131918 0 35 111 KCNB2 9312 broad.mit.edu 37 8 73849756 73849756 + Silent SNP T T C rs114148959 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:73849756T>C uc003xzb.2 + 3 2754 c.2166T>C c.(2164-2166)AAT>AAC p.N722N NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 722 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TTAAGGAAAATAGAGGCAGTG 0.537 NaN 0 0 0 0.139131 0 64 54 SNX31 169166 broad.mit.edu 37 8 101629926 101629926 + Silent SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:101629926A>G uc003yjr.2 - 5 505 c.354T>C c.(352-354)TAT>TAC p.Y118Y SNX31_uc011lhb.1_Silent_p.Y19Y NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 118 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) ATATGTCCAGATAAGCTTTCT 0.303 NaN 0 0 0 0.086207 0 32 105 CSMD3 114788 broad.mit.edu 37 8 114185980 114185981 + Missense_Mutation DNP GA GA AT TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:114185980_114185981GA>AT uc003ynu.2 - 4 838_839 c.679_680TC>AT c.(679-681)TCG>ATG p.S227M CSMD3_uc003ynt.2_Missense_Mutation_p.S187M|CSMD3_uc011lhx.1_Missense_Mutation_p.S227M|CSMD3_uc010mcx.1_Missense_Mutation_p.S227M NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 227 Extracellular (Potential).|Sushi 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAAATCCCACGAAGCTGTATTA 0.431 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.115264 0 41 138 ATAD2 29028 broad.mit.edu 37 8 124382256 124382256 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:124382256C>T uc003yqh.3 - 7 844 c.736G>A c.(736-738)GAA>AAA p.E246K ATAD2_uc011lii.1_Missense_Mutation_p.E37K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E246K NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCACCCTCTTCAGATGACTCT 0.234 NaN 0 0 0 0.139131 0 45 44 RHPN1 114822 broad.mit.edu 37 8 144457813 144457813 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:144457813C>T uc003yyb.2 + 2 284 c.151C>T c.(151-153)CGG>TGG p.R51W NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 51 REM. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GCTGCAGATGCGGACGGGCGC 0.672 NaN 0 0 0 0.144211 0 24 20 GPR172A 79581 broad.mit.edu 37 8 145583069 145583069 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:145583069A>G uc003zcc.1 + 2 273 c.116A>G c.(115-117)AAA>AGA p.K39R FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.K39R|GPR172A_uc003zce.1_Missense_Mutation_p.K39R|GPR172A_uc010mfy.1_Missense_Mutation_p.K39R|GPR172A_uc003zcf.1_Missense_Mutation_p.K39R|GPR172A_uc011llc.1_Intron NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 39 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GTGGTGGTCAAAGAGCTTCCA 0.647 NaN 0 0 0 0.115264 0 3 40 TLE1 7088 broad.mit.edu 37 9 84235445 84235445 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:84235445G>A uc004aly.2 - 9 1063 c.622C>T c.(622-624)CTA>TTA p.L208L TLE1_uc004alz.2_Silent_p.L218L|TLE1_uc011lsr.1_Silent_p.L208L|TLE1_uc004ama.1_Silent_p.L208L|TLE1_uc011lss.1_Silent_p.L134L NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 208 CCN domain. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 GTGCCTCTTAGACTGTCTGGG 0.408 NaN 0 0 0 0.043863 0 16 50 SUSD3 203328 broad.mit.edu 37 9 95840160 95840160 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:95840160G>A uc004atb.2 + 3 346 c.310G>A c.(310-312)GTG>ATG p.V104M SUSD3_uc004atc.2_Missense_Mutation_p.V91M NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 104 Helical; (Potential). integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 TGGCTTCAAGGTGGCCGTGAT 0.597 NaN 0 0 0 0.059317 0 27 33 ZNF462 58499 broad.mit.edu 37 9 109688322 109688322 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:109688322C>G uc004bcz.2 + 3 2418 c.2129C>G c.(2128-2130)ACC>AGC p.T710S ZNF462_uc010mto.2_Missense_Mutation_p.T558S|ZNF462_uc004bda.2_Missense_Mutation_p.T558S NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 710 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ATTAACCAAACCAAACAGCAG 0.453 NaN 0 0 0 0.086207 0 36 70 AK1 203 broad.mit.edu 37 9 130630320 130630320 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130630320G>A uc004bsm.3 - 7 705 c.552C>T c.(550-552)TCC>TCT p.S184S NM_000476 NP_000467 P00568 KAD1_HUMAN adenylate kinase 1 184 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding 0 TGCAGACCTGGGAGAAGACAC 0.662 NaN 0 0 0 0.076483 0 20 41 ST6GALNAC4 27090 broad.mit.edu 37 9 130670821 130670821 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130670821C>G uc004bss.2 - 6 1035 c.759G>C c.(757-759)GAG>GAC p.E253D ST6GALNAC4_uc004bst.2_Missense_Mutation_p.E169D NM_175039 NP_778204 Q9H4F1 SIA7D_HUMAN sialyltransferase 7D isoform a 253 Lumenal (Potential). glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity 0 GCCGGCCCTTCTCAAAGTAGT 0.647 NaN 0 0 0 0.139131 0 44 48 FAM102A 399665 broad.mit.edu 37 9 130742369 130742369 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:130742369G>A uc004bsx.1 - 1 127 c.48C>T c.(46-48)TTC>TTT p.F16F NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 16 ovary(1) 1 CCTCCAGGGTGAAAGTAGTTT 0.522 NaN 0 0 0 0.139131 0 51 107 AGPAT2 10555 broad.mit.edu 37 9 139571568 139571568 + Nonsense_Mutation SNP C C A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:139571568C>A uc004cii.1 - 3 439 c.337G>T c.(337-339)GAG>TAG p.E113* AGPAT2_uc004cij.1_Nonsense_Mutation_p.E113* NM_006412 NP_006403 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 113 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) ACGCAGCGCTCCGGAAGGACC 0.547 NaN 1 0 0.00621372 0.058154 0.00630312 9 22 COBRA1 25920 broad.mit.edu 37 9 140151344 140151344 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr9:140151344G>A uc004cmm.3 + 4 638 c.435G>A c.(433-435)GTG>GTA p.V145V NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 145 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) CCGTGGAGGTGAAGCGGCAGA 0.567 NaN 0 0 0 0.058154 0 7 35 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:37027156C>G uc004ddl.1 + 1 687 c.673C>G c.(673-675)CAG>GAG p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 225 ovary(3) 3 TCTCCGCCCACAGCCTCCCAA 0.647 NaN 0 0 0 0.021553 0 4 72 MSN 4478 broad.mit.edu 37 X 64959692 64959692 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:64959692G>A uc004dwf.2 + 13 1869 c.1671G>A c.(1669-1671)AAG>AAA p.K557K NM_002444 NP_002435 P26038 MOES_HUMAN moesin 557 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 ACAAATACAAGACCCTGCGCC 0.547 NaN T ALK ALCL 0 0 0 0.139131 0 43 58 ACRC 93953 broad.mit.edu 37 X 70823836 70823836 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:70823836G>A uc004eae.2 + 8 1210 c.709G>A c.(709-711)GAC>AAC p.D237N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 237 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) TGTTCCCGACGACAGCAGTGA 0.537 NaN 0 0 0 0.139131 0 248 47 PAK3 5063 broad.mit.edu 37 X 110439755 110439755 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:110439755G>A uc004epa.2 + 13 1366 c.1339G>A c.(1339-1341)GAG>AAG p.E447K PAK3_uc010npt.1_Missense_Mutation_p.E432K|PAK3_uc010npu.1_Missense_Mutation_p.E432K|PAK3_uc004eoy.1_Missense_Mutation_p.E187K|PAK3_uc004eoz.2_Missense_Mutation_p.E432K|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.E468K|PAK3_uc010npw.1_Missense_Mutation_p.E453K NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 447 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GATGGCACCTGAGGTGGTGAC 0.468 NaN TSP Lung(19;0.15) 0 0 0 0.139131 0 49 57 KLHL13 90293 broad.mit.edu 37 X 117053581 117053581 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:117053581G>C uc004eql.2 - 4 535 c.473C>G c.(472-474)TCT>TGT p.S158C KLHL13_uc004eqk.2_Missense_Mutation_p.S107C|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.S152C|KLHL13_uc011mtp.1_Missense_Mutation_p.S160C|KLHL13_uc004eqm.2_Missense_Mutation_p.S107C|KLHL13_uc011mtq.1_Missense_Mutation_p.S142C NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 158 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 CATATTAAGAGAAAGCTTTGC 0.383 NaN 0 0 0 0.099896 0 23 43 CDR1 1038 broad.mit.edu 37 X 139866322 139866322 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:139866322C>T uc004fbg.1 - 1 402 c.210G>A c.(208-210)TCG>TCA p.S70S uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 70 23 X 6 AA approximate repeats.|12. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCATAGCTTCCGAAAAATCCA 0.458 NaN 0 0 0 0.115264 0 3 48 SPANXN2 494119 broad.mit.edu 37 X 142795255 142795255 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:142795255C>T uc004fbz.2 - 2 1177 c.423G>A c.(421-423)CTG>CTA p.L141L NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 141 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CAGATGAGTCCAGGTCTTCGT 0.517 NaN 0 0 0 0.105934 0 6 227 MAGEA6 4105 broad.mit.edu 37 X 151870055 151870055 + Missense_Mutation SNP T T C rs140963484 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:151870055T>C uc004ffq.1 + 3 939 c.745T>C c.(745-747)TAT>CAT p.Y249H MAGEA6_uc004ffr.1_Missense_Mutation_p.Y249H|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 249 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GCTCACCCAATATTTCGTGCA 0.547 NaN 0 0 0 0.083992 0 21 89 MAGEA3 4102 broad.mit.edu 37 X 151935357 151935357 + Silent SNP T T C rs35014597 byFrequency TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:151935357T>C uc004fgp.2 - 3 1019 c.810A>G c.(808-810)GAA>GAG p.E270E NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 270 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGAATTCATAACATG 0.532 NaN 0 0 0 0.038147 0 4 145 MAGEA3 4102 broad.mit.edu 37 X 151935363 151935363 + Silent SNP A A G rs35137903 by1000genomes TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:151935363A>G uc004fgp.2 - 3 1013 c.804T>C c.(802-804)TGT>TGC p.C268C NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 268 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GGAATTCATAACATGCAGGAT 0.517 NaN 0 0 0 0.080935 0 7 138 HCFC1 3054 broad.mit.edu 37 X 153224926 153224926 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:153224926G>A uc004fjp.2 - 9 1989 c.1461C>T c.(1459-1461)CTC>CTT p.L487L NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 487 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGTCACTTTGAGAACAGCAG 0.612 NaN 0 0 0 0.049695 0 16 26 TIGD3 220359 broad.mit.edu 37 11 65124162 65124162 + Frame_Shift_Del DEL C C - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:65124162delC uc001odo.3 + 2 1046 c.883delC c.(883-885)CCCfs p.P295fs NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 295 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CACCACGCCTCCCCTGCCCAG 0.652 NaN NaN NaN NaN NaN NaN 24 69 --- --- LTBP3 4054 broad.mit.edu 37 11 65315174 65315174 + Frame_Shift_Del DEL C C - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr11:65315174delC uc001oej.2 - 13 2234 c.1965delG c.(1963-1965)GGGfs p.G655fs LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Frame_Shift_Del_p.G85fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.G538fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.G655fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.G356fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G566fs NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 655 EGF-like 4; calcium-binding (Potential).|Cys-rich. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CGCACGAGCGCCCCCCGGCGC 0.736 NaN NaN NaN NaN NaN NaN 2 4 --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs66793222 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr15:78913068_78913070delCAG uc002bec.2 - 1 253_255 c.67_69delCTG c.(67-69)CTGdel p.L23del CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 gcagcagagacagcagcagcagc 0.601 NaN NaN NaN NaN NaN NaN 3 6 --- --- SCRT2 85508 broad.mit.edu 37 20 644846 644847 + Frame_Shift_Ins INS - - C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:644846_644847insC uc002wec.2 - 2 970_971 c.392_393insG c.(391-393)GGCfs p.G131fs SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 cgtctcccgagccccccgcgtc 0.347 NaN NaN NaN NaN NaN NaN 2 4 --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:30309591delA uc002wwl.2 - 2 797 c.431delT c.(430-432)TTCfs p.F144fs BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Frame_Shift_Del_p.F144fs|BCL2L1_uc002wwo.1_Frame_Shift_Del_p.F144fs NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 144 BH1. induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 NaN NaN NaN NaN NaN NaN 7 1557 --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr20:58467047delT uc002yaz.2 - 23 2501 c.2362delA c.(2362-2364)ATGfs p.M788fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 NaN NaN NaN NaN NaN NaN 7 74 --- --- ARHGAP39 80728 broad.mit.edu 37 8 145773342 145773344 + In_Frame_Del DEL CTG CTG - rs77462981 TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chr8:145773342_145773344delCTG uc003zdt.1 - 6 1681_1683 c.1126_1128delCAG c.(1126-1128)CAGdel p.Q376del ARHGAP39_uc011llk.1_In_Frame_Del_p.Q376del|ARHGAP39_uc003zds.1_In_Frame_Del_p.Q376del NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 376 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 CGGGACACTTCTGCTTGGTGAGC 0.704 NaN NaN NaN NaN NaN NaN 9 4 --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 372feefe-ee84-4833-8651-8f023f38a56a f2da1011-c718-4bef-9180-5b846cf31308 g.chrX:152087570_152087572delGAG uc010ntv.1 + 7 512_514 c.475_477delGAG c.(475-477)GAGdel p.E165del ZNF185_uc011myg.1_In_Frame_Del_p.E165del|ZNF185_uc011myh.1_In_Frame_Del_p.E165del|ZNF185_uc011myi.1_In_Frame_Del_p.E165del|ZNF185_uc011myj.1_In_Frame_Del_p.E165del|ZNF185_uc011myk.1_In_Frame_Del_p.E165del|ZNF185_uc004fgw.3_In_Frame_Del_p.E30del|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.522 NaN NaN NaN NaN NaN NaN 7 38 --- ---