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 CLCN6 1185 broad.mit.edu 37 1 11888677 11888677 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:11888677G>A uc001ate.3 + 12 1230 c.1117G>A c.(1117-1119)GTC>ATC p.V373I CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.V89I|CLCN6_uc010oau.1_Missense_Mutation_p.V351I NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 373 Helical; (By similarity). cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACCTAAGCTCGTCAGGTATCT 0.627 NaN 0 0 0 0.001168 0 6 108 VPS13D 55187 broad.mit.edu 37 1 12371682 12371682 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:12371682T>C uc001atv.2 + 28 6963 c.6822T>C c.(6820-6822)CAT>CAC p.H2274H VPS13D_uc001atw.2_Silent_p.H2274H|VPS13D_uc001atx.2_Silent_p.H1462H|VPS13D_uc001aty.1_Silent_p.H12H NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2274 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAAGAATTCATGTGAGTGAGA 0.433 NaN 0 0 0 0.020292 0 14 109 AADACL4 343066 broad.mit.edu 37 1 12704629 12704629 + Missense_Mutation SNP T T G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:12704629T>G uc001auf.2 + 1 64 c.64T>G c.(64-66)TGG>GGG p.W22G NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 22 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTCTTTGTCTGGGCTGTCTT 0.552 NaN 0 0 0 0.013537 0 13 124 MFAP2 4237 broad.mit.edu 37 1 17303274 17303274 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:17303274G>A uc001azw.2 - 5 303 c.170C>T c.(169-171)CCC>CTC p.P57L MFAP2_uc001azx.2_Missense_Mutation_p.P56L|MFAP2_uc001azy.2_Missense_Mutation_p.P57L|MFAP2_uc010ocl.1_Missense_Mutation_p.P56L NM_002403 NP_002394 P55001 MFAP2_HUMAN microfibrillar-associated protein 2 isoform a 57 microfibril 0 Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TTCCTCGGAGGGCCGAGGAGT 0.383 NaN 0 0 0 0.009096 0 4 89 ARID1A 8289 broad.mit.edu 37 1 27057947 27057947 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:27057947C>T uc001bmv.1 + 3 2028 c.1655C>T c.(1654-1656)TCA>TTA p.S552L ARID1A_uc001bmt.1_Missense_Mutation_p.S552L|ARID1A_uc001bmu.1_Missense_Mutation_p.S552L|ARID1A_uc001bmw.1_Missense_Mutation_p.S169L NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 552 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCCCTACTCACAGCCACAG 0.652 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.009535 0 31 203 ARID1A 8289 broad.mit.edu 37 1 27057988 27057988 + Nonsense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:27057988C>T uc001bmv.1 + 3 2069 c.1696C>T c.(1696-1698)CAG>TAG p.Q566* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q183* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 566 Poly-Gln. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAGCAACCTCAGCAGCCAGC 0.637 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.010818 0 32 207 CSMD2 114784 broad.mit.edu 37 1 34164482 34164482 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:34164482C>T uc001bxn.1 - 24 3705 c.3676G>A c.(3676-3678)GAA>AAA p.E1226K CSMD2_uc001bxm.1_Missense_Mutation_p.E1266K|CSMD2_uc001bxo.1_Missense_Mutation_p.E139K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1226 Sushi 7.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAATGACCTTCATCATGAACC 0.537 NaN 0 0 0 0.00308 0 7 44 CSMD2 114784 broad.mit.edu 37 1 34166205 34166205 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:34166205C>T uc001bxn.1 - 23 3554 c.3525G>A c.(3523-3525)GTG>GTA p.V1175V CSMD2_uc001bxm.1_Silent_p.V1215V|CSMD2_uc001bxo.1_Silent_p.V88V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1175 Extracellular (Potential).|CUB 7. V -> E (in Ref. 2; BAC87101). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTTCAAAGTCACCCCCATCA 0.483 NaN 0 0 0 0.016723 0 12 85 ZC3H12A 80149 broad.mit.edu 37 1 37947335 37947335 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:37947335C>T uc001cbb.3 + 4 867 c.717C>T c.(715-717)ATC>ATT p.I239I ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 239 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGACGGGATCGTGGTTTCCA 0.567 NaN 0 0 0 0.013537 0 11 73 EPS15 2060 broad.mit.edu 37 1 51912718 51912718 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:51912718T>C uc001csq.1 - 10 803 c.711A>G c.(709-711)AAA>AAG p.K237K EPS15_uc009vyz.1_Silent_p.K237K NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 237 EH 3.|EF-hand 2.|2. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 CGTCCATATCTTTATCAGTTT 0.363 NaN T MLL ALL 0 0 0 0.00308 0 7 67 GLIS1 148979 broad.mit.edu 37 1 54059901 54059901 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:54059901C>G uc001cvr.1 - 3 1242 c.675G>C c.(673-675)AAG>AAC p.K225N NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 225 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 AGTCCTCGCCCTTGCGCTGGT 0.662 NaN 0 0 0 0.004672 0 3 20 DHCR24 1718 broad.mit.edu 37 1 55331117 55331117 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:55331117C>T uc001cyc.1 - 6 1008 c.879G>A c.(877-879)CTG>CTA p.L293L DHCR24_uc010ooi.1_5'UTR|DHCR24_uc010ooj.1_Intron|DHCR24_uc010ook.1_Silent_p.L252L NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 293 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 CAATGCTATTCAGCTGAAATG 0.408 NaN 0 0 0 0.006214 0 8 58 C1orf173 127254 broad.mit.edu 37 1 75036915 75036915 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:75036915C>T uc001dgg.2 - 14 4698 c.4479G>A c.(4477-4479)GCG>GCA p.A1493A NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1493 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GTGTTGCCATCGCCTGTAGAC 0.522 NaN 0 0 0 0.020292 0 13 150 ADAM30 11085 broad.mit.edu 37 1 120436733 120436733 + Nonsense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:120436733C>A uc001eij.2 - 1 2381 c.2227G>T c.(2227-2229)GAA>TAA p.E743* NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 743 2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTTTTAGATTCTTCCTGTACA 0.358 NaN 1 0 0.00307968 0.00308 0.00322292 8 157 FLG 2312 broad.mit.edu 37 1 152282624 152282624 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:152282624C>G uc001ezu.1 - 3 4774 c.4738G>C c.(4738-4740)GAA>CAA p.E1580Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1580 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGCTGATTCTCCCTGGCCC 0.597 NaN Ichthyosis 0 0 0 0.008361 0 31 203 FLG 2312 broad.mit.edu 37 1 152285731 152285731 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:152285731G>A uc001ezu.1 - 3 1667 c.1631C>T c.(1630-1632)TCC>TTC p.S544F uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 544 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTGATGGGAACCTGAGTG 0.557 NaN Ichthyosis 0 0 0 0.00623 0 40 301 DARS2 55157 broad.mit.edu 37 1 173795890 173795890 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:173795890G>C uc001gjh.1 + 2 603 c.193G>C c.(193-195)GAA>CAA p.E65Q CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 65 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) CTTAGGCCAAGAAGTCACCTT 0.398 NaN 0 0 0 0.006214 0 7 70 CR2 1380 broad.mit.edu 37 1 207639892 207639892 + Missense_Mutation SNP C C T rs150906379 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:207639892C>T uc001hfw.2 + 2 174 c.80C>T c.(79-81)CCG>CTG p.P27L CR2_uc001hfv.2_Missense_Mutation_p.P27L|CR2_uc009xch.2_Missense_Mutation_p.P27L NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 27 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GGCTCTCCTCCGCCTATCCTA 0.413 NaN 0 0 0 0.016723 0 12 131 MOSC2 54996 broad.mit.edu 37 1 220955233 220955233 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:220955233G>A uc001hmq.2 + 7 1196 c.998G>A c.(997-999)CGG>CAG p.R333Q MOSC2_uc001hmr.2_Missense_Mutation_p.R333Q|MOSC2_uc009xdx.2_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN MOCO sulphurase C-terminal domain containing 2 333 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204) CCTGTGTATCGGATGGTGTAG 0.438 NaN 0 0 0 0.020292 0 11 135 ZNF692 55657 broad.mit.edu 37 1 249144438 249144438 + Nonsense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:249144438G>A uc001ifc.1 - 12 1698 c.1531C>T c.(1531-1533)CAG>TAG p.Q511* ZNF692_uc001iez.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.Q307*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.Q510*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.Q466*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.Q516* NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GTTGGAGCCTGAGGAGATGCA 0.612 NaN 0 0 0 0.001984 0 5 51 CUBN 8029 broad.mit.edu 37 10 16932503 16932503 + Silent SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:16932503C>G uc001ioo.2 - 55 8674 c.8622G>C c.(8620-8622)GTG>GTC p.V2874V CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V230V NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2874 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGGCTTTGTCCACCTCCTCAG 0.498 NaN 0 0 0 0.00308 0 6 62 CUBN 8029 broad.mit.edu 37 10 17087133 17087133 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:17087133G>C uc001ioo.2 - 25 3597 c.3545C>G c.(3544-3546)CCG>CGG p.P1182R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1182 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATAGGGCATCGGGTAGTTGGG 0.493 NaN 0 0 0 0.00308 0 7 61 PPYR1 5540 broad.mit.edu 37 10 47087272 47087272 + Silent SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:47087272C>A uc001jee.2 + 3 908 c.489C>A c.(487-489)ATC>ATA p.I163I ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.I163I NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 163 Helical; Name=4; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 TTGTGCTCATCTGGGTCATTG 0.587 NaN 1 0 0.00116845 0.001168 0.00123234 6 90 KCNMA1 3778 broad.mit.edu 37 10 78943241 78943241 + Missense_Mutation SNP A A G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:78943241A>G uc001jxn.2 - 5 923 c.746T>C c.(745-747)GTA>GCA p.V249A KCNMA1_uc001jxj.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V69A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V249A NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 249 Helical; Name=Segment S3; (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GAAATCCACTACAGAGTTCAC 0.448 NaN 0 0 0 0.009096 0 4 33 HPSE2 60495 broad.mit.edu 37 10 100242424 100242424 + Nonsense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:100242424G>A uc001kpn.1 - 11 1642 c.1582C>T c.(1582-1584)CAG>TAG p.Q528* HPSE2_uc009xwc.1_Nonsense_Mutation_p.Q518*|HPSE2_uc001kpo.1_Nonsense_Mutation_p.Q460*|HPSE2_uc009xwd.1_Nonsense_Mutation_p.Q406* NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 528 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CCATAGGGCTGCAGCAGGTAC 0.522 NaN 0 0 0 0.008361 0 28 160 C10orf2 56652 broad.mit.edu 37 10 102748960 102748960 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:102748960C>G uc001ksf.2 + 1 1668 c.993C>G c.(991-993)TTC>TTG p.F331L MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.F331L|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 331 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AACGATGCTTCTTGGTGCGAC 0.572 NaN 0 0 0 0.020292 0 13 67 HABP2 3026 broad.mit.edu 37 10 115337829 115337829 + Missense_Mutation SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:115337829T>A uc001lai.3 + 6 596 c.493T>A c.(493-495)TGC>AGC p.C165S HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Silent_p.P153P NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 165 EGF-like 3. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TGGGGCTACCTGCTCCCGGCA 0.557 NaN 0 0 0 0.006214 0 10 68 GPR123 84435 broad.mit.edu 37 10 134912196 134912196 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:134912196C>T uc001llx.3 + 4 620 c.184C>T c.(184-186)CAC>TAC p.H62Y GPR123_uc001llw.2_Missense_Mutation_p.H782Y NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 62 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TTTCTGCTTCCACGCGGCCCT 0.652 NaN 0 0 0 0.004482 0 9 61 ZNF214 7761 broad.mit.edu 37 11 7021340 7021340 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:7021340G>A uc001mfa.2 - 3 1877 c.1574C>T c.(1573-1575)CCC>CTC p.P525L ZNF214_uc010ray.1_Missense_Mutation_p.P525L|ZNF214_uc009yfh.1_Missense_Mutation_p.P525L NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ACATTTATAGGGCTTTTCTCC 0.423 NaN 0 0 0 0.00308 0 8 67 TMEM41B 440026 broad.mit.edu 37 11 9305135 9305135 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:9305135C>T uc001mhm.2 - 7 1020 c.712G>A c.(712-714)GCA>ACA p.A238T TMEM41B_uc001mhn.1_Missense_Mutation_p.A238T NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 238 Helical; (Potential). integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) GAAGGAGGTGCGACACCTGAA 0.333 NaN 0 0 0 0.001984 0 6 29 OR5AS1 219447 broad.mit.edu 37 11 55798793 55798793 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:55798793C>T uc010riw.1 + 1 899 c.899C>T c.(898-900)GCT>GTT p.A300V NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) GTGAAAAATGCTCTCAAAAAG 0.308 NaN 0 0 0 0.00308 0 8 32 OR8K5 219453 broad.mit.edu 37 11 55927583 55927583 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:55927583G>C uc010rja.1 - 1 211 c.211C>G c.(211-213)CTT>GTT p.L71V NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GAATTACCAAGATCAACAAAA 0.403 NaN 0 0 0 0.010729 0 12 115 P2RX3 5024 broad.mit.edu 37 11 57135555 57135555 + Silent SNP C C T rs150261482 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b 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 0.014758 0 4 44 AHNAK 79026 broad.mit.edu 37 11 62288917 62288917 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:62288917G>A uc001ntl.2 - 5 13272 c.12972C>T c.(12970-12972)TTC>TTT p.F4324F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4324 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTGGCATGCTGAATTTGGGCA 0.517 NaN 0 0 0 0.001984 0 7 222 AHNAK 79026 broad.mit.edu 37 11 62289517 62289517 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:62289517G>A uc001ntl.2 - 5 12672 c.12372C>T c.(12370-12372)CTC>CTT p.L4124L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4124 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCGGTGCCTTGAGGTGCAGGT 0.493 NaN 0 0 0 0.001168 0 6 141 AHNAK 79026 broad.mit.edu 37 11 62290726 62290726 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:62290726G>C uc001ntl.2 - 5 11463 c.11163C>G c.(11161-11163)ATC>ATG p.I3721M AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3721 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTGAGCCTTCGATGTTAATGT 0.458 NaN 0 0 0 0.006214 0 9 153 RARRES3 5920 broad.mit.edu 37 11 63312303 63312303 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:63312303G>T uc001nxf.3 + 3 397 c.329G>T c.(328-330)AGC>ATC p.S110I NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 110 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 AGTATTGTGAGCAGGAACTGT 0.512 NaN 1 0 0.000442599 0.006214 0.00047048 9 132 PACS1 55690 broad.mit.edu 37 11 65977851 65977851 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:65977851C>T uc001oha.1 + 3 597 c.463C>T c.(463-465)CGC>TGC p.R155C PACS1_uc001ogz.1_Missense_Mutation_p.R155C NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 155 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 AAGAATTCTTCGCTCCAACGA 0.328 NaN 0 0 0 0.020292 0 14 56 SUV420H1 51111 broad.mit.edu 37 11 67926270 67926270 + Missense_Mutation SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:67926270T>C uc001onm.1 - 11 1799 c.1543A>G c.(1543-1545)AGA>GGA p.R515G SUV420H1_uc009yse.1_Missense_Mutation_p.R101G|SUV420H1_uc001onn.1_Missense_Mutation_p.R343G|SUV420H1_uc009ysf.2_Missense_Mutation_p.R275G NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTGTGTTCTCTCGCCGCGTGT 0.522 NaN 0 0 0 0.009096 0 4 59 USP35 57558 broad.mit.edu 37 11 77911809 77911809 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:77911809C>T uc009yva.1 + 6 1398 c.1152C>T c.(1150-1152)TTC>TTT p.F384F USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 384 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TGTTCCGGTTCCCGGGCTTCC 0.622 NaN 0 0 0 0.001984 0 4 34 CARD17 440068 broad.mit.edu 37 11 104971361 104971361 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:104971361C>T uc001pir.1 - 2 170 c.153G>A c.(151-153)ATG>ATA p.M51I CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron NM_001007232 NP_001007233 Q5XLA6 CAR17_HUMAN caspase recruitment domain family, member 17 51 CARD. proteolysis|regulation of apoptosis cytoplasm cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity ovary(1) 1 GGGCCTTATCCATAACTGTAG 0.443 NaN 0 0 0 0.004007 0 16 84 FOXRED1 55572 broad.mit.edu 37 11 126147526 126147526 + Missense_Mutation SNP C C T rs142489681 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:126147526C>T uc001qdi.2 + 11 1450 c.1403C>T c.(1402-1404)CCC>CTC p.P468L FOXRED1_uc010sbn.1_Missense_Mutation_p.P298L|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P281L|FOXRED1_uc010sbq.1_Missense_Mutation_p.P335L|FOXRED1_uc001qdj.2_Missense_Mutation_p.P257L|FOXRED1_uc010sbr.1_Missense_Mutation_p.P454L|FOXRED1_uc001qdk.2_Missense_Mutation_p.P257L NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 468 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) GACCTGAGCCCCTTCCTCTTT 0.572 NaN 0 0 0 0.014758 0 4 40 OPCML 4978 broad.mit.edu 37 11 132306105 132306105 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:132306105C>T uc001qgs.2 - 6 862 c.812G>A c.(811-813)AGG>AAG p.R271K OPCML_uc001qgu.2_Missense_Mutation_p.R264K|OPCML_uc010sck.1_Missense_Mutation_p.R271K|OPCML_uc001qgt.2_Missense_Mutation_p.R270K|OPCML_uc010scl.1_Missense_Mutation_p.R230K NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 271 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GTTTTCAATCCTCATTCCATC 0.448 NaN 0 0 0 0.009096 0 4 109 NCAPD3 23310 broad.mit.edu 37 11 134029834 134029834 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:134029834C>G uc001qhd.1 - 29 4426 c.3820G>C c.(3820-3822)GAT>CAT p.D1274H NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D224H NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1274 Potential. cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCGGCCACATCTGCATGTTTT 0.562 NaN 0 0 0 0.014758 0 5 23 VWF 7450 broad.mit.edu 37 12 6085359 6085359 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:6085359G>C uc001qnn.1 - 43 7605 c.7355C>G c.(7354-7356)ACC>AGC p.T2452S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2452 VWFC 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GTCGGTGCAGGTGCACACATC 0.607 NaN 0 0 0 0.009096 0 4 89 CD9 928 broad.mit.edu 37 12 6344475 6344475 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:6344475G>A uc001qnp.1 + 6 873 c.429G>A c.(427-429)CTG>CTA p.L143L CD9_uc010sev.1_Silent_p.L143L|CD9_uc001qnq.1_Silent_p.L143L NM_001769 NP_001760 P21926 CD9_HUMAN CD9 antigen 143 Extracellular (Potential). cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane ovary(1) 1 GGGAAACGCTGAAAGCCATCC 0.532 NaN 0 0 0 0.009096 0 4 64 PDZRN4 29951 broad.mit.edu 37 12 41966808 41966808 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:41966808G>C uc010skn.1 + 10 1698 c.1630G>C c.(1630-1632)GAG>CAG p.E544Q PDZRN4_uc001rmq.3_Missense_Mutation_p.E485Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E483Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E370Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 743 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CAACACAGCTGAGAGCTGCAG 0.458 NaN 0 0 0 0.006214 0 9 60 STAC3 246329 broad.mit.edu 37 12 57638099 57638099 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:57638099C>T uc001snp.2 - 10 1052 c.857G>A c.(856-858)CGG>CAG p.R286Q STAC3_uc009zpl.2_Silent_p.A3A|STAC3_uc001snq.2_Missense_Mutation_p.R247Q|STAC3_uc010srm.1_Missense_Mutation_p.R100Q NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 286 SH3 1. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 TTCTCTCACCCGCCACCATTC 0.552 NaN OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014758 0 5 75 STAC3 246329 broad.mit.edu 37 12 57638949 57638949 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:57638949C>G uc001snp.2 - 7 844 c.649G>C c.(649-651)GAG>CAG p.E217Q STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E178Q|STAC3_uc010srm.1_Missense_Mutation_p.E31Q NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 217 intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 TTGCCTTCCTCTGGTCTGGCC 0.592 NaN 0 0 0 0.016723 0 12 117 R3HDM2 22864 broad.mit.edu 37 12 57648809 57648809 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:57648809G>C uc009zpm.1 - 22 2713 c.2678C>G c.(2677-2679)TCT>TGT p.S893C R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.S588C|R3HDM2_uc001snr.2_Missense_Mutation_p.S620C|R3HDM2_uc001sns.2_Missense_Mutation_p.S893C|R3HDM2_uc001snt.2_Missense_Mutation_p.S907C|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 893 nucleus nucleic acid binding ovary(2) 2 CTTGGCGCCAGACATGGCGAG 0.647 NaN 0 0 0 0.001984 0 5 70 EID3 493861 broad.mit.edu 37 12 104697894 104697894 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:104697894C>T uc001tkw.2 + 1 346 c.182C>T c.(181-183)TCG>TTG p.S61L TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 ATCGTGAGCTCGGCGAACAAC 0.612 NaN 0 0 0 0.014758 0 5 50 NUAK1 9891 broad.mit.edu 37 12 106460646 106460646 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:106460646G>A uc001tlj.1 - 7 3300 c.1920C>T c.(1918-1920)CTC>CTT p.L640L NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 640 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CCATGTCTGTGAGGAGGGAGA 0.627 NaN 0 0 0 0.001984 0 6 96 TRPV4 59341 broad.mit.edu 37 12 110230175 110230175 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:110230175G>A uc001tpj.1 - 11 1979 c.1884C>T c.(1882-1884)TAC>TAT p.Y628Y TRPV4_uc001tpg.1_Silent_p.Y594Y|TRPV4_uc001tph.1_Silent_p.Y581Y|TRPV4_uc001tpi.1_Silent_p.Y521Y|TRPV4_uc001tpk.1_Silent_p.Y628Y|TRPV4_uc001tpl.1_Silent_p.Y568Y NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 628 Helical; (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CACCTGAAGCGTAGCCGATCA 0.537 NaN 0 0 0 0.014758 0 5 27 DTX1 1840 broad.mit.edu 37 12 113515265 113515265 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:113515265C>G uc001tuk.1 + 2 632 c.296C>G c.(295-297)CCG>CGG p.P99R NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 99 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 TTCTACGACCCGTCGTCGGCG 0.667 NaN 0 0 0 0.009096 0 4 54 MPHOSPH9 10198 broad.mit.edu 37 12 123706297 123706297 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr12:123706297G>A uc001uel.2 - 1 145 c.38C>T c.(37-39)TCT>TTT p.S13F MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 13 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ATGGATAACAGATTCATTTCT 0.398 NaN 0 0 0 0.014758 0 5 80 PABPC3 5042 broad.mit.edu 37 13 25670975 25670975 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr13:25670975G>T uc001upy.2 + 1 700 c.639G>T c.(637-639)AAG>AAT p.K213N NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 213 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTTTGGCAAGTTCGGGCCCG 0.428 NaN 1 0 1.23904e-05 0.014758 1.34354e-05 5 61 C13orf34 79866 broad.mit.edu 37 13 73317730 73317730 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr13:73317730G>C uc001viv.1 + 6 563 c.444G>C c.(442-444)GAG>GAC p.E148D C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.E223D|C13orf34_uc010thr.1_Missense_Mutation_p.E78D|C13orf34_uc001viw.1_Missense_Mutation_p.E97D NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 148 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) TTCATTCTGAGAAAAGCGATG 0.343 NaN 0 0 0 0.014758 0 4 51 TGM1 7051 broad.mit.edu 37 14 24727874 24727874 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr14:24727874G>A uc001wod.2 - 8 1289 c.1165C>T c.(1165-1167)CGC>TGC p.R389C TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 389 R -> H (in NCIE).|R -> P (in ARCI-TGM1). cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CCCAGGCAGCGCAGCACTGTG 0.567 NaN 0 0 0 0.009096 0 4 38 STON2 85439 broad.mit.edu 37 14 81744238 81744238 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr14:81744238C>T uc010tvu.1 - 4 1618 c.1417G>A c.(1417-1419)GAG>AAG p.E473K STON2_uc001xvk.1_Missense_Mutation_p.E473K|STON2_uc010tvt.1_Missense_Mutation_p.E270K NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 473 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGCTTGAACTCACGGAATGGT 0.493 NaN 0 0 0 0.001984 0 7 169 PPP1R13B 23368 broad.mit.edu 37 14 104263749 104263749 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr14:104263749C>T uc001yof.1 - 2 399 c.116G>A c.(115-117)GGA>GAA p.G39E PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 39 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GCTGCCTTCTCCAGGTTCCTT 0.378 NaN 0 0 0 0.008871 0 17 116 C14orf2 9556 broad.mit.edu 37 14 104381411 104381411 + Missense_Mutation SNP C C T rs149160111 byFrequency TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr14:104381411C>T uc001yoi.3 - 2 213 c.116G>A c.(115-117)CGG>CAG p.R39Q C14orf2_uc001yoj.3_Missense_Mutation_p.R56Q|C14orf2_uc010aww.1_Missense_Mutation_p.R39Q|C14orf2_uc001yok.2_Missense_Mutation_p.R39Q NM_004894 NP_004885 P56378 68MP_HUMAN 6.8 kDa mitochondrial proteolipid isoform 1 39 mitochondrion 0 Epithelial(152;0.223) ACCAGCAGCCCGGATTTTATA 0.383 NaN 0 0 0 0.001168 0 4 58 MKRN3 7681 broad.mit.edu 37 15 23811314 23811314 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr15:23811314G>A uc001ywh.3 + 1 861 c.385G>A c.(385-387)GAG>AAG p.E129K MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E129K NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 129 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GATGGCCACTGAGGGTGGCGT 0.622 NaN 0 0 0 0.001984 0 5 42 MAP1A 4130 broad.mit.edu 37 15 43820200 43820200 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr15:43820200C>A uc001zrt.2 + 4 6996 c.6529C>A c.(6529-6531)CCC>ACC p.P2177T NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2177 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCAGCCAGCTCCCCCACAGCT 0.652 NaN 1 0 3.83957e-06 0.016522 4.1971e-06 20 146 FRMD5 84978 broad.mit.edu 37 15 44181066 44181066 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr15:44181066C>G uc001ztl.2 - 9 910 c.733G>C c.(733-735)GAG>CAG p.E245Q FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E156Q|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.E11Q NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 245 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TTGGTCACCTCATTCCTAGAA 0.478 NaN 0 0 0 0.001984 0 7 52 SPPL2A 84888 broad.mit.edu 37 15 51041038 51041038 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr15:51041038G>A uc001zyv.2 - 3 387 c.207C>T c.(205-207)TCC>TCT p.S69S NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 69 Cytoplasmic (Potential).|PA. integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) ATAGTGGTGTGGAAGTCAGAT 0.353 NaN 0 0 0 0.013537 0 11 106 MCTP2 55784 broad.mit.edu 37 15 95019959 95019959 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr15:95019959C>T uc002btj.2 + 21 2570 c.2505C>T c.(2503-2505)CCC>CCT p.P835P MCTP2_uc010boj.2_Silent_p.P564P|MCTP2_uc010bok.2_Silent_p.P780P|MCTP2_uc002btl.2_Silent_p.P423P NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 835 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTCGAAATCCCTATTCCATCG 0.308 NaN 0 0 0 0.004482 0 8 59 TXNDC11 51061 broad.mit.edu 37 16 11773514 11773514 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:11773514C>G uc010buu.1 - 13 2557 c.2495G>C c.(2494-2496)AGA>ACA p.R832T TXNDC11_uc002dbg.1_Missense_Mutation_p.R805T NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 832 Potential. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 CTGGATCTCTCTCTCCAAGTG 0.582 NaN 0 0 0 0.001168 0 5 39 TMC5 79838 broad.mit.edu 37 16 19501754 19501754 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:19501754C>G uc002dgc.3 + 18 3360 c.2611C>G c.(2611-2613)CTG>GTG p.L871V TMC5_uc010vaq.1_Missense_Mutation_p.L819V|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.L871V|TMC5_uc002dgd.1_Missense_Mutation_p.L625V|TMC5_uc002dge.3_Missense_Mutation_p.L625V|TMC5_uc002dgf.3_Missense_Mutation_p.L554V|TMC5_uc002dgg.3_Missense_Mutation_p.L512V NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 871 Cytoplasmic (Potential). integral to membrane skin(1) 1 TTTTCGAGGTCTGCCTCTCTT 0.478 NaN 0 0 0 0.007413 0 19 116 PAPD5 64282 broad.mit.edu 37 16 50257151 50257151 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:50257151G>A uc010vgo.1 + 8 1224 c.1189G>A c.(1189-1191)GAA>AAA p.E397K PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.E188K|PAPD5_uc002ega.2_Missense_Mutation_p.E188K NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 318 PAP-associated. cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) AGAATTTTTTGAATTATATGG 0.343 NaN 0 0 0 0.009096 0 4 59 CX3CL1 6376 broad.mit.edu 37 16 57406489 57406489 + Silent SNP G G A rs150111366 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:57406489G>A uc002eli.2 + 1 76 c.9G>A c.(7-9)CCG>CCA p.P3P NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 3 cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CCATGGCTCCGATATCTCTGT 0.657 NaN 0 0 0 0.020292 0 12 42 CDH11 1009 broad.mit.edu 37 16 64984875 64984875 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:64984875C>T uc002eoi.2 - 12 2123 c.1689G>A c.(1687-1689)CAG>CAA p.Q563Q CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.Q563Q|CDH11_uc010vin.1_Silent_p.Q437Q NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 563 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AGTCCTGCTTCTGCCGACTGA 0.592 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.013537 0 11 32 CTCF 10664 broad.mit.edu 37 16 67662347 67662347 + Silent SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:67662347C>A uc002etl.2 + 9 1883 c.1593C>A c.(1591-1593)ACC>ACA p.T531T CTCF_uc010cek.2_Silent_p.T203T|CTCF_uc002etm.1_Silent_p.T20T NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 531 C2H2-type 10. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GCGATAAGACCTTCCGCCAGA 0.547 NaN 1 0 1.10513e-12 0.014323 1.25372e-12 23 76 NUDT7 283927 broad.mit.edu 37 16 77759451 77759451 + Silent SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:77759451C>G uc010chd.2 + 2 228 c.159C>G c.(157-159)CTC>CTG p.L53L NUDT7_uc002fff.2_Silent_p.L53L|NUDT7_uc010vnj.1_Silent_p.L53L NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 53 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 AAGGAAAACTCCATTTGTTGT 0.428 NaN 0 0 0 0.003163 0 12 41 PRPF8 10594 broad.mit.edu 37 17 1562039 1562039 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:1562039G>A uc002fte.2 - 33 5271 c.5157C>T c.(5155-5157)TTC>TTT p.F1719F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1719 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGCTGCCTGGGAACCAGTTTC 0.507 NaN 0 0 0 0.001984 0 6 60 DNAH2 146754 broad.mit.edu 37 17 7721269 7721269 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:7721269G>C uc002giu.1 + 67 10256 c.10242G>C c.(10240-10242)CTG>CTC p.L3414L DNAH2_uc010cnm.1_Silent_p.L352L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3414 AAA 5 (By similarity). 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) TCTAGGGCCTGAAGATCATCG 0.577 NaN 0 0 0 0.003163 0 13 103 GUCY2D 3000 broad.mit.edu 37 17 7915609 7915609 + Nonsense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:7915609C>T uc002gjt.2 + 9 1971 c.1897C>T c.(1897-1899)CAG>TAG p.Q633* NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 633 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CCTCCTCGCTCAGAGAGAAAT 0.632 NaN 0 0 0 0.009096 0 4 56 KRT28 162605 broad.mit.edu 37 17 38955182 38955182 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:38955182C>A uc002hvh.1 - 2 586 c.520G>T c.(520-522)GAT>TAT p.D174Y NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 174 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) AGCCTGAAATCATCAGCAGCC 0.318 NaN 1 0 1.26484e-09 0.00308 1.41119e-09 6 122 BRIP1 83990 broad.mit.edu 37 17 59926522 59926522 + Missense_Mutation SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:59926522T>C uc002izk.1 - 5 616 c.475A>G c.(475-477)AAA>GAA p.K159E NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 159 Nuclear localization signal (Potential).|Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CGAATTCTTTTCTTCTCTACT 0.378 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.020292 0 15 92 SCN4A 6329 broad.mit.edu 37 17 62038715 62038715 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:62038715G>A uc002jds.1 - 11 1760 c.1683C>T c.(1681-1683)TGC>TGT p.C561C NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 561 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCCACGGGGCGCAGCAGTTCC 0.562 NaN 0 0 0 0.008291 0 9 197 CSNK1D 1453 broad.mit.edu 37 17 80223620 80223620 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr17:80223620T>C uc002kej.2 - 2 445 c.129A>G c.(127-129)AAA>AAG p.K43K CSNK1D_uc002kef.2_Silent_p.K43K|CSNK1D_uc002kei.2_Silent_p.K43K|CSNK1D_uc010wvj.1_5'UTR NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 43 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) GGTGTTTGGTTTTGACACATT 0.463 NaN 0 0 0 0.00308 0 7 127 EMILIN2 84034 broad.mit.edu 37 18 2913063 2913063 + Splice_Site SNP A A C rs113730111 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:2913063A>C uc002kln.2 + 8 2984 c.2825_splice c.e8-2 p.G942_splice NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TTCTCCCCGCAGGGGTCTTCA 0.617 NaN 0 0 0 0.009096 0 4 39 C18orf8 29919 broad.mit.edu 37 18 21083604 21083604 + Silent SNP C C T rs143953070 byFrequency TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:21083604C>T uc010xax.1 + 1 143 c.22C>T c.(22-24)CTG>TTG p.L8L C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Silent_p.L8L|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 8 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGACTACTATCTGGAGCTGTG 0.537 NaN 0 0 0 0.009096 0 4 38 ATP5A1 498 broad.mit.edu 37 18 43668178 43668178 + Silent SNP G G A rs59386231 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:43668178G>A uc002lbr.1 - 6 786 c.696C>T c.(694-696)TTC>TTT p.F232F ATP5A1_uc010dnl.1_Silent_p.F182F|ATP5A1_uc002lbs.1_Silent_p.F182F|ATP5A1_uc002lbt.1_Silent_p.F232F NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 232 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 ATCCATCATTGAAACGTTTCT 0.343 NaN 0 0 0 0.004482 0 7 85 KATNAL2 83473 broad.mit.edu 37 18 44593394 44593394 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:44593394C>T uc002lco.2 + 8 707 c.513C>T c.(511-513)GAC>GAT p.D171D KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 243 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 CATTGCAGGACATTTATCTCC 0.353 NaN 0 0 0 0.009096 0 4 34 CDH20 28316 broad.mit.edu 37 18 59206358 59206358 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:59206358G>C uc010dps.1 + 8 1522 c.1510G>C c.(1510-1512)GAG>CAG p.E504Q CDH20_uc002lif.2_Missense_Mutation_p.E498Q NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 504 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TTTTGTCTGTGAGAACGCCAA 0.463 NaN 0 0 0 0.014323 0 20 121 PRTN3 5657 broad.mit.edu 37 19 843531 843531 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:843531C>T uc002lqa.1 + 2 156 c.132C>T c.(130-132)TCC>TCT p.S44S NM_002777 NP_002768 P24158 PRTN3_HUMAN myeloblastin 44 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACATGGCCTCCCTGCAGATGC 0.706 NaN 0 0 0 0.009096 0 3 4 DPP9 91039 broad.mit.edu 37 19 4704192 4704192 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:4704192G>C uc002mba.2 - 6 809 c.551C>G c.(550-552)GCC>GGC p.A184G DPP9_uc002mbb.2_Missense_Mutation_p.A184G|DPP9_uc002mbc.2_Missense_Mutation_p.A184G NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 155 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GCTGTTGCTGGCCTGGAAGAG 0.672 NaN 0 0 0 0.004672 0 3 56 EVI5L 115704 broad.mit.edu 37 19 7917998 7917998 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:7917998G>C uc002min.2 + 9 1168 c.1014G>C c.(1012-1014)CAG>CAC p.Q338H EVI5L_uc010xjz.1_Missense_Mutation_p.Q338H|EVI5L_uc002mio.1_Missense_Mutation_p.Q69H NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 338 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 TCCCCCACCAGTTCGACAGCT 0.617 NaN OREG0025211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 7 161 SLC7A9 11136 broad.mit.edu 37 19 33355033 33355033 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:33355033G>A uc002ntv.3 - 4 564 c.447C>T c.(445-447)ATC>ATT p.I149I SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.I149I|SLC7A9_uc002ntw.3_5'UTR NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 149 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATTTCACAACGATTTGAGGAG 0.597 NaN 0 0 0 0.00308 0 4 52 USF2 7392 broad.mit.edu 37 19 35769607 35769607 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:35769607G>A uc002nyq.1 + 8 843 c.734G>A c.(733-735)CGG>CAG p.R245Q USF2_uc010xss.1_Missense_Mutation_p.R245Q|USF2_uc002nyr.1_Missense_Mutation_p.R178Q|USF2_uc002nys.1_Missense_Mutation_p.R47Q|USF2_uc002nyt.1_Missense_Mutation_p.R114Q|USF2_uc002nyu.1_Missense_Mutation_p.R47Q|USF2_uc002nyv.1_Missense_Mutation_p.R47Q NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 245 Poly-Arg.|Basic motif. lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCAGTGGAGCGGAGGCGGAGG 0.597 NaN 0 0 0 0.012213 0 29 162 LGALS7B 653499 broad.mit.edu 37 19 39281455 39281455 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:39281455G>A uc002ojf.3 + 3 239 c.222G>A c.(220-222)GAG>GAA p.E74E NM_001042507 NP_001035972 P47929 LEG7_HUMAN galectin-7B 74 Galectin.|Beta-galactoside binding (Potential). apoptosis|heterophilic cell-cell adhesion cytoplasm|extracellular space|nucleus sugar binding 0 GCCGCGAGGAGCGCGGGCCGG 0.677 NaN 0 0 0 0.014758 0 3 19 CEACAM5 1048 broad.mit.edu 37 19 42224859 42224859 + Missense_Mutation SNP A A T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:42224859A>T uc002ork.2 + 8 1910 c.1789A>T c.(1789-1791)ATC>TTC p.I597F CEACAM5_uc002orj.1_Missense_Mutation_p.I596F|CEACAM5_uc002orl.2_Missense_Mutation_p.I597F NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 597 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GGACACCCCCATCATTTCCCC 0.552 NaN 0 0 0 0.008361 0 27 157 PSG1 5669 broad.mit.edu 37 19 43372318 43372318 + Missense_Mutation SNP A A G rs1058795 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:43372318A>G uc002ovb.2 - 5 1316 c.1178T>C c.(1177-1179)GTT>GCT p.V393A PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.V393A|PSG1_uc010eio.1_Missense_Mutation_p.V393A|PSG1_uc002oux.1_Missense_Mutation_p.V322A|PSG1_uc002ouy.1_Missense_Mutation_p.V300A|PSG1_uc002ouz.1_Missense_Mutation_p.V393A|PSG1_uc002ova.1_Missense_Mutation_p.V300A|PSG1_uc002ovc.2_Missense_Mutation_p.V300A|PSG1_uc002ovd.1_Missense_Mutation_p.V393A NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 393 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) AACAGAGCAAACATAGAGCCC 0.458 NaN 0 0 0 0.009535 0 28 258 PSG1 5669 broad.mit.edu 37 19 43372335 43372335 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:43372335C>A uc002ovb.2 - 5 1299 c.1161G>T c.(1159-1161)AAG>AAT p.K387N PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.K387N|PSG1_uc010eio.1_Missense_Mutation_p.K387N|PSG1_uc002oux.1_Missense_Mutation_p.K316N|PSG1_uc002ouy.1_Missense_Mutation_p.K294N|PSG1_uc002ouz.1_Missense_Mutation_p.K387N|PSG1_uc002ova.1_Missense_Mutation_p.K294N|PSG1_uc002ovc.2_Missense_Mutation_p.K294N|PSG1_uc002ovd.1_Missense_Mutation_p.K387N NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 387 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GCCCGCTATGCTTTGTAGTAA 0.463 NaN 1 0 5.8336e-16 0.015359 6.64588e-16 31 254 SLC17A7 57030 broad.mit.edu 37 19 49934671 49934671 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:49934671G>C uc002pnp.2 - 10 1357 c.1185C>G c.(1183-1185)GTC>GTG p.V395V SLC17A7_uc002pno.2_Intron NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 395 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GCGAGTAGCCGACCACCAACA 0.577 NaN 0 0 0 0.006214 0 10 45 ALDH16A1 126133 broad.mit.edu 37 19 49965942 49965942 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:49965942G>T uc002pnt.2 + 8 1144 c.1028G>T c.(1027-1029)GGG>GTG p.G343V ALDH16A1_uc010yar.1_Missense_Mutation_p.G292V|ALDH16A1_uc010yas.1_Missense_Mutation_p.G178V|ALDH16A1_uc010yat.1_Missense_Mutation_p.G180V NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 343 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GTGGACATGGGGGCCCGGGGG 0.672 NaN 1 0 3.86212e-05 0.008291 4.15447e-05 9 40 AP2A1 160 broad.mit.edu 37 19 50303343 50303343 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:50303343G>A uc002ppn.2 + 11 1602 c.1391G>A c.(1390-1392)CGT>CAT p.R464H AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R464H|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 464 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GTGTGGTACCGTGTGCTACAG 0.592 NaN 0 0 0 0.014758 0 5 17 ZNF473 25888 broad.mit.edu 37 19 50549435 50549435 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:50549435C>G uc002prn.2 + 5 1972 c.1735C>G c.(1735-1737)CAG>GAG p.Q579E ZNF473_uc002prm.2_Missense_Mutation_p.Q579E|ZNF473_uc010ybo.1_Missense_Mutation_p.Q567E NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 579 C2H2-type 11. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) ATACCTAACTCAGCACGAGAG 0.453 NaN 0 0 0 0.001984 0 7 44 ZNF577 84765 broad.mit.edu 37 19 52376173 52376173 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:52376173C>G uc010yde.1 - 7 1461 c.1070G>C c.(1069-1071)AGA>ACA p.R357T ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.R298T|ZNF577_uc002pxv.2_Missense_Mutation_p.R350T|ZNF577_uc002pxw.2_Missense_Mutation_p.R291T NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 357 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCCACATTCTCTGCATGAATA 0.428 NaN 0 0 0 0.009096 0 4 83 ZNF836 162962 broad.mit.edu 37 19 52658463 52658463 + Nonsense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:52658463G>A uc010ydi.1 - 5 2847 c.2473C>T c.(2473-2475)CAG>TAG p.Q825* ZNF836_uc010ydj.1_Nonsense_Mutation_p.Q825* NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 825 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCATTTTCTGATGATTAACC 0.398 NaN 0 0 0 0.00632 0 26 132 ZNF761 388561 broad.mit.edu 37 19 53958025 53958025 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:53958025G>A uc010eqp.2 + 7 722 c.264G>A c.(262-264)CAG>CAA p.Q88Q ZNF761_uc010ydy.1_Silent_p.Q34Q|ZNF761_uc002qbt.1_Silent_p.Q34Q NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TTTGCTACCAGGATGTTGATA 0.388 NaN 0 0 0 0.016723 0 14 53 ISOC2 79763 broad.mit.edu 37 19 55967807 55967807 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr19:55967807G>C uc002qlb.2 - 2 221 c.47C>G c.(46-48)TCT>TGT p.S16C ISOC2_uc002qla.2_Missense_Mutation_p.S16C|ISOC2_uc002qlc.2_Missense_Mutation_p.S16C NM_001136201 NP_001129673 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 isoform 1 16 protein destabilization mitochondrion|nucleus catalytic activity|protein binding ovary(1) 1 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) GAACAGGACAGAGGATCCTGG 0.617 NaN 0 0 0 0.008291 0 10 80 MYT1L 23040 broad.mit.edu 37 2 1812936 1812936 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:1812936C>A uc002qxe.2 - 22 3911 c.3084G>T c.(3082-3084)TTG>TTT p.L1028F MYT1L_uc002qxd.2_Missense_Mutation_p.L1026F|MYT1L_uc010ewk.2_Missense_Mutation_p.L24F NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1028 C2HC-type 6. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCATCCTGACAAGCTGTGGA 0.542 NaN 1 0 2.74318e-10 0.006214 3.07327e-10 8 79 ROCK2 9475 broad.mit.edu 37 2 11348013 11348013 + Missense_Mutation SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:11348013T>C uc002rbd.1 - 20 2837 c.2388A>G c.(2386-2388)ATA>ATG p.I796M NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 796 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTCTTGCTCTATTTTTAATG 0.308 NaN 0 0 0 0.001168 0 5 78 OTOF 9381 broad.mit.edu 37 2 26750716 26750716 + Missense_Mutation SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:26750716T>C uc002rhk.2 - 3 338 c.211A>G c.(211-213)AAA>GAA p.K71E NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 71 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGAAGACTTTGCTGTAGTTG 0.582 NaN 0 0 0 0.00308 0 7 64 RBKS 64080 broad.mit.edu 37 2 28081337 28081337 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:28081337C>T uc002rlo.1 - 2 202 c.191G>A c.(190-192)CGG>CAG p.R64Q RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.R64Q NM_022128 NP_071411 Q9H477 RBSK_HUMAN ribokinase 64 D-ribose metabolic process ATP binding|ribokinase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) TGCTCCAAGCCGAGCAGCTTG 0.438 NaN 0 0 0 0.009096 0 4 45 STRN 6801 broad.mit.edu 37 2 37105140 37105140 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:37105140C>G uc002rpn.2 - 10 1226 c.1217G>C c.(1216-1218)GGA>GCA p.G406A STRN_uc010ezx.2_Missense_Mutation_p.G369A NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 406 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GAATGACTTTCCAGAAGAAGG 0.438 NaN 0 0 0 0.013537 0 13 163 ADRA2B 151 broad.mit.edu 37 2 96781355 96781355 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:96781355G>A uc002svi.2 - 1 534 c.534C>T c.(532-534)ATC>ATT p.I178I NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 178 Helical; Name=5; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) AGAAAGATCCGATGCTGGAGG 0.637 NaN 0 0 0 0.004672 0 3 32 GYPC 2995 broad.mit.edu 37 2 127447889 127447889 + Splice_Site SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:127447889T>A uc002tnq.2 + 2 262 c.106_splice c.e2+2 p.E36_splice GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_Splice_Site NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CCATTGCAGGTGAGTTCTCAT 0.527 NaN 0 0 0 0.004672 0 3 41 LRP1B 53353 broad.mit.edu 37 2 141215109 141215109 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:141215109G>T uc002tvj.1 - 61 10709 c.9737C>A c.(9736-9738)GCA>GAA p.A3246E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3246 Extracellular (Potential).|LDL-receptor class B 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGTCTGTCTGCTCCCGATGT 0.423 NaN TSP Lung(27;0.18) 1 0 2.17888e-05 0.006214 2.35319e-05 10 74 RIF1 55183 broad.mit.edu 37 2 152321463 152321463 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:152321463C>T uc002txm.2 + 30 5559 c.5429C>T c.(5428-5430)TCA>TTA p.S1810L RIF1_uc002txl.2_Missense_Mutation_p.S1810L|RIF1_uc002txn.2_Missense_Mutation_p.S1810L|RIF1_uc002txo.2_Missense_Mutation_p.S1810L|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1810 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATTAATGATTCATTAATTGTT 0.303 NaN 0 0 0 0.004482 0 8 49 NEB 4703 broad.mit.edu 37 2 152484043 152484043 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:152484043C>G uc010fnx.2 - 65 9599 c.9408G>C c.(9406-9408)CAG>CAC p.Q3136H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3136 Nebulin 85. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACATCGCTCTGGAGGTCAT 0.473 NaN 0 0 0 0.006214 0 8 138 RAPGEF4 11069 broad.mit.edu 37 2 173879313 173879313 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:173879313G>A uc002uhv.3 + 18 1967 c.1780G>A c.(1780-1782)GAG>AAG p.E594K RAPGEF4_uc002uhw.3_Missense_Mutation_p.E450K NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 594 N-terminal Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) CCTCCTGCAAGAGGATGACGT 0.502 NaN 0 0 0 0.014758 0 4 30 ZAK 51776 broad.mit.edu 37 2 174047626 174047626 + Missense_Mutation SNP A A G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:174047626A>G uc002uhz.2 + 4 492 c.292A>G c.(292-294)AGA>GGA p.R98G ZAK_uc002uhx.2_Missense_Mutation_p.R98G|ZAK_uc002uhy.2_Missense_Mutation_p.R98G|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.R98G NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 98 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) TAACAGTAACAGAAGTGAGGA 0.323 NaN 0 0 0 0.001984 0 6 33 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A A C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:179440352A>C uc010zfg.1 - 275 63027 c.62803T>G c.(62803-62805)TGT>GGT p.C20935G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21862 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) AAATATTCACACCCTTCAGAC 0.438 NaN 0 0 0 0.017118 0 10 83 COL5A2 1290 broad.mit.edu 37 2 189931119 189931119 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:189931119T>C uc002uqk.2 - 23 1835 c.1560A>G c.(1558-1560)GAA>GAG p.E520E COL5A2_uc010frx.2_Silent_p.E96E NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 520 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AATTTACCCTTTCTCCCACTG 0.453 NaN 0 0 0 0.010729 0 11 177 TMEFF2 23671 broad.mit.edu 37 2 192818461 192818461 + Silent SNP A A T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:192818461A>T uc002utc.2 - 9 1366 c.972T>A c.(970-972)GCT>GCA p.A324A NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 324 Helical; (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TTCCAATCACAGCTGCGATTA 0.433 NaN 0 0 0 0.008291 0 9 46 FN1 2335 broad.mit.edu 37 2 216259329 216259329 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:216259329C>T uc002vfa.2 - 24 3984 c.3718G>A c.(3718-3720)GGC>AGC p.G1240S FN1_uc002vfb.2_Missense_Mutation_p.G1240S|FN1_uc002vfc.2_Missense_Mutation_p.G1240S|FN1_uc002vfd.2_Missense_Mutation_p.G1240S|FN1_uc002vfe.2_Missense_Mutation_p.G1240S|FN1_uc002vff.2_Missense_Mutation_p.G1240S|FN1_uc002vfg.2_Missense_Mutation_p.G1240S|FN1_uc002vfh.2_Missense_Mutation_p.G1240S|FN1_uc002vfi.2_Missense_Mutation_p.G1240S|FN1_uc002vfj.2_Missense_Mutation_p.G1240S|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1240 Fibronectin type-III 7. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACTCCAGGCCGGGACTCAGG 0.453 NaN 0 0 0 0.004482 0 7 145 B3GNT7 93010 broad.mit.edu 37 2 232263313 232263313 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:232263313C>T uc002vrs.2 + 2 1063 c.883C>T c.(883-885)CCG>TCG p.P295S NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 295 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GGCCAGCTATCCGCCGTATGC 0.647 NaN 0 0 0 0.009096 0 4 25 INPP5D 3635 broad.mit.edu 37 2 234098579 234098579 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:234098579C>T uc010zmo.1 + 21 2595 c.2442C>T c.(2440-2442)TCC>TCT p.S814S INPP5D_uc010zmp.1_Silent_p.S813S NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 814 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCGACGAATCCTATGGTAAGG 0.567 NaN 0 0 0 0.014758 0 5 45 MTERFD2 130916 broad.mit.edu 37 2 242035456 242035456 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr2:242035456G>A uc002wan.1 - 3 1683 c.1190C>T c.(1189-1191)GCG>GTG p.A397V MTERFD2_uc010zoj.1_Missense_Mutation_p.A180V NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 368 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) attgtcctccgcctcgtcgtc 0.194 NaN 0 0 0 0.014758 0 5 64 C20orf26 26074 broad.mit.edu 37 20 20144789 20144789 + Silent SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr20:20144789C>A uc002wru.2 + 11 1198 c.1122C>A c.(1120-1122)CCC>CCA p.P374P C20orf26_uc010gcw.1_Silent_p.P328P|C20orf26_uc010zse.1_Silent_p.P374P|C20orf26_uc010zsf.1_Silent_p.P374P NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 374 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CTGAAGAGCCCGTCCACTTCC 0.478 NaN 1 0 7.48243e-07 0.006214 8.24594e-07 9 88 XRN2 22803 broad.mit.edu 37 20 21312985 21312985 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr20:21312985C>G uc002wsf.1 + 9 860 c.765C>G c.(763-765)TTC>TTG p.F255L XRN2_uc002wsg.1_Missense_Mutation_p.F179L|XRN2_uc010zsk.1_Missense_Mutation_p.F201L NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 255 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GAGAAGAATTCAAACCAAACA 0.388 NaN 0 0 0 0.001168 0 6 48 RUNX1 861 broad.mit.edu 37 21 36421143 36421143 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr21:36421143C>G uc010gmu.2 - 2 198 c.54G>C c.(52-54)ATG>ATC p.M18I RUNX1_uc002yut.1_RNA|RUNX1_uc010gmv.2_Missense_Mutation_p.M18I|RUNX1_uc002yuj.3_5'UTR|RUNX1_uc002yuk.3_Missense_Mutation_p.M18I|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.M18I NM_001754 NP_001745 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform Error:Variant_position_missing_in_Q01196_after_alignment myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 ACTCACCTCTCATGAAGCACT 0.483 NaN T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 0 0 0 0.001984 0 6 172 WDR4 10785 broad.mit.edu 37 21 44272389 44272389 + Missense_Mutation SNP G G A rs147294240 byFrequency TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr21:44272389G>A uc002zci.2 - 10 1094 c.1021C>T c.(1021-1023)CGT>TGT p.R341C WDR4_uc002zck.1_Missense_Mutation_p.R341C|WDR4_uc002zcl.1_Missense_Mutation_p.R195C|WDR4_uc010gpg.1_Missense_Mutation_p.R340C|WDR4_uc011aew.1_Missense_Mutation_p.R195C|WDR4_uc010gph.1_Missense_Mutation_p.R195C NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 341 tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CAGTTCCCACGAAGAACACCA 0.567 NaN 0 0 0 0.014758 0 4 24 WDR4 10785 broad.mit.edu 37 21 44274683 44274683 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr21:44274683G>C uc002zci.2 - 8 853 c.780C>G c.(778-780)CTC>CTG p.L260L WDR4_uc002zck.1_Silent_p.L260L|WDR4_uc002zcl.1_Silent_p.L114L|WDR4_uc010gpg.1_Silent_p.L259L|WDR4_uc011aew.1_Silent_p.L114L|WDR4_uc010gph.1_Silent_p.L114L NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 260 tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CGTCGCACAGGAGCGCCACGC 0.612 NaN 0 0 0 0.009096 0 3 25 MCM3AP 8888 broad.mit.edu 37 21 47678906 47678906 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr21:47678906C>G uc002zir.1 - 16 3717 c.3681G>C c.(3679-3681)CAG>CAC p.Q1227H MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Missense_Mutation_p.Q154H NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1227 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCTTTGCAGTCTGGAAGATTT 0.537 NaN 0 0 0 0.001168 0 5 81 RIMBP3 85376 broad.mit.edu 37 22 20458068 20458068 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr22:20458068G>A uc002zsd.3 - 1 3719 c.3234C>T c.(3232-3234)TTC>TTT p.F1078F NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AGAGTGTGTCGAAGGTGACGG 0.662 NaN 0 0 0 0.009096 0 4 35 THAP7 80764 broad.mit.edu 37 22 21354354 21354354 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr22:21354354C>G uc002ztr.1 - 5 775 c.745G>C c.(745-747)GAT>CAT p.D249H THAP7_uc002zts.1_Missense_Mutation_p.D249H|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank NM_001008695 NP_001008695 Q9BT49 THAP7_HUMAN THAP domain containing 7 isoform 2 249 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding 0 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCAAGGGCATCAAGGGCTGCC 0.682 NaN 0 0 0 0.006214 0 10 33 LARGE 9215 broad.mit.edu 37 22 34046621 34046621 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr22:34046621G>A uc003and.3 - 4 719 c.140C>T c.(139-141)TCC>TTC p.S47F LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 47 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GTGTGCCTGGGACTCCAGCGG 0.647 NaN 0 0 0 0.004672 0 3 34 EFCAB6 64800 broad.mit.edu 37 22 44068181 44068181 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr22:44068181C>G uc003bdy.1 - 14 1639 c.1424G>C c.(1423-1425)AGA>ACA p.R475T EFCAB6_uc003bdz.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzi.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AGATGTCTTTCTCATCTAATT 0.294 NaN 0 0 0 0.009096 0 4 34 CADPS 8618 broad.mit.edu 37 3 62484936 62484936 + Silent SNP T T C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr3:62484936T>C uc003dll.2 - 18 2967 c.2607A>G c.(2605-2607)GTA>GTG p.V869V CADPS_uc003dlk.1_Silent_p.V373V|CADPS_uc003dlm.2_Silent_p.V886V|CADPS_uc003dln.2_Silent_p.V846V NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 869 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TTAACCGGCCTACATTTTCTG 0.398 NaN 0 0 0 0.014758 0 4 28 ROBO2 6092 broad.mit.edu 37 3 77645844 77645844 + Missense_Mutation SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr3:77645844T>A uc003dpy.3 + 19 3440 c.2797T>A c.(2797-2799)TTG>ATG p.L933M ROBO2_uc003dpz.2_Missense_Mutation_p.L937M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L937M|ROBO2_uc003dqa.2_Missense_Mutation_p.L60M NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 933 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGCCACGAGCTTGCCAGTAAA 0.428 NaN 0 0 0 0.006214 0 8 87 MYH15 22989 broad.mit.edu 37 3 108133162 108133162 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr3:108133162G>C uc003dxa.1 - 31 4179 c.4122C>G c.(4120-4122)TCC>TCG p.S1374S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1374 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CATTGACTTTGGATAAGGTCC 0.498 NaN 0 0 0 0.006214 0 8 31 TRH 7200 broad.mit.edu 37 3 129695896 129695896 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr3:129695896G>T uc003enc.2 + 3 1127 c.566G>T c.(565-567)GGC>GTC p.G189V NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 189 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 CAGCATCCGGGCAAGAGGGCC 0.527 NaN 1 0 1.58986e-06 0.008291 1.74497e-06 10 41 C3orf58 205428 broad.mit.edu 37 3 143691456 143691456 + Silent SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr3:143691456G>C uc003evo.2 + 1 817 c.282G>C c.(280-282)GCG>GCC p.A94A C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 94 COPI vesicle coat|extracellular region ovary(1) 1 TGTACTTCGCGCAGTACGGCG 0.692 NaN 0 0 0 0.001168 0 6 52 PIGG 54872 broad.mit.edu 37 4 524484 524484 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:524484G>C uc003gak.3 + 11 2657 c.2521G>C c.(2521-2523)GAG>CAG p.E841Q PIGG_uc003gaj.3_Missense_Mutation_p.E833Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.E708Q|PIGG_uc003gal.3_Missense_Mutation_p.E752Q NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 841 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 CGATGCAGCTGAGATTACTGT 0.378 NaN 0 0 0 0.001984 0 7 172 KIAA0232 9778 broad.mit.edu 37 4 6843914 6843914 + Nonsense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:6843914C>T uc003gjr.3 + 4 815 c.352C>T c.(352-354)CGA>TGA p.R118* KIAA0232_uc003gjq.3_Nonsense_Mutation_p.R118* NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 118 ATP binding ovary(2) 2 CCAGTGTCTTCGATCTGCTTC 0.348 NaN 0 0 0 0.009096 0 4 67 CPZ 8532 broad.mit.edu 37 4 8616129 8616129 + Silent SNP C C T rs139712717 byFrequency TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:8616129C>T uc003glm.2 + 9 1533 c.1407C>T c.(1405-1407)ATC>ATT p.I469I CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.I332I|CPZ_uc003glo.2_Silent_p.I458I|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 469 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GCTTTGAGATCACGGTAGAGC 0.582 NaN 0 0 0 0.014758 0 5 62 LRRC66 339977 broad.mit.edu 37 4 52861074 52861074 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:52861074G>A uc003gzi.2 - 4 2127 c.2114C>T c.(2113-2115)TCT>TTT p.S705F NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 705 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCCCTCATCAGAGTCACAGTC 0.527 NaN 0 0 0 0.014758 0 4 76 PDGFRA 5156 broad.mit.edu 37 4 54280809 54280809 + Silent SNP A A C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:54280809A>C uc003haa.2 + 11 1029 c.843A>C c.(841-843)ACA>ACC p.T281T FIP1L1_uc003gzx.3_Silent_p.T266T|FIP1L1_uc011bzt.1_Intron|FIP1L1_uc003gzy.2_Silent_p.T281T|FIP1L1_uc011bzu.1_Silent_p.T266T|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Silent_p.T246T|FIP1L1_uc003hac.2_Intron|FIP1L1_uc010ign.2_Intron NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGTCTCAGACAAGTACTGCCT 0.403 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.00308 0 6 24 KDR 3791 broad.mit.edu 37 4 55948801 55948801 + Nonsense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:55948801G>A uc003has.2 - 28 3966 c.3664C>T c.(3664-3666)CAG>TAG p.Q1222* KDR_uc003hat.1_Nonsense_Mutation_p.Q1222* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1222 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGCAGATACTGACTGCAAAAG 0.373 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.00308 0 7 54 SLC4A4 8671 broad.mit.edu 37 4 72215710 72215710 + Missense_Mutation SNP T T G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:72215710T>G uc003hfy.2 + 5 588 c.471T>G c.(469-471)AGT>AGG p.S157R SLC4A4_uc010iic.2_Missense_Mutation_p.S157R|SLC4A4_uc010iib.2_Missense_Mutation_p.S157R|SLC4A4_uc003hfz.2_Missense_Mutation_p.S157R|SLC4A4_uc003hgc.3_Missense_Mutation_p.S113R|SLC4A4_uc003hga.2_Missense_Mutation_p.S35R|SLC4A4_uc003hgb.3_Missense_Mutation_p.S113R NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 157 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCCTTCATAGTTTATTTGAGC 0.453 NaN 0 0 0 0.001168 0 6 82 ANXA5 308 broad.mit.edu 37 4 122591161 122591161 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr4:122591161G>C uc003idu.3 - 10 798 c.728C>G c.(727-729)TCT>TGT p.S243C ANXA5_uc003idv.3_Missense_Mutation_p.S243C|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.S243C|ANXA5_uc010inn.2_Missense_Mutation_p.S183C|ANXA5_uc010ino.2_Missense_Mutation_p.S143C NM_001154 NP_001145 P08758 ANXA5_HUMAN annexin 5 243 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity ovary(1) 1 ACTTCGAATAGATTTCACTAA 0.333 NaN 0 0 0 0.006214 0 8 51 ADAMTS16 170690 broad.mit.edu 37 5 5186206 5186206 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:5186206G>A uc003jdl.2 + 5 943 c.805G>A c.(805-807)GAT>AAT p.D269N ADAMTS16_uc003jdk.1_Missense_Mutation_p.D269N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.D269N NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 269 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CATCTTGCCAGATGAGTATAA 0.498 NaN 0 0 0 0.01441 0 61 166 MTRR 4552 broad.mit.edu 37 5 7895909 7895909 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:7895909C>T uc003jed.2 + 12 1731 c.1701C>T c.(1699-1701)ATC>ATT p.I567I MTRR_uc003jee.3_Silent_p.I540I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 567 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAATCCCCATCATAATGGTGG 0.398 NaN 0 0 0 0.01441 0 52 110 MTMR12 54545 broad.mit.edu 37 5 32229905 32229905 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:32229905G>A uc003jhq.2 - 16 2393 c.2223C>T c.(2221-2223)TTC>TTT p.F741F MTMR12_uc010iuk.2_Silent_p.F687F|MTMR12_uc010iul.2_Silent_p.F631F NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 741 cytoplasm phosphatase activity ovary(1) 1 CTAGGTCCACGAACTCATCTT 0.512 NaN 0 0 0 0.007413 0 18 51 MTMR12 54545 broad.mit.edu 37 5 32230145 32230145 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:32230145C>T uc003jhq.2 - 16 2153 c.1983G>A c.(1981-1983)CTG>CTA p.L661L MTMR12_uc010iuk.2_Silent_p.L607L|MTMR12_uc010iul.2_Silent_p.L551L NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 661 cytoplasm phosphatase activity ovary(1) 1 AGAGTTTGCTCAGAGTGGCCA 0.572 NaN 0 0 0 0.008291 0 9 184 FBXO4 26272 broad.mit.edu 37 5 41929974 41929974 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:41929974G>A uc003jmq.2 + 3 657 c.601G>A c.(601-603)GAG>AAG p.E201K FBXO4_uc003jmp.2_Missense_Mutation_p.E201K|FBXO4_uc003jmr.2_Missense_Mutation_p.E201K NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 201 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GATGTCTTCAGAGGAACTTTG 0.398 NaN 0 0 0 0.01441 0 56 170 CCNH 902 broad.mit.edu 37 5 86700789 86700789 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:86700789C>G uc003kjb.2 - 5 793 c.561G>C c.(559-561)TTG>TTC p.L187F CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.L134F|CCNH_uc003kja.2_Missense_Mutation_p.L134F NM_001239 NP_001230 P51946 CCNH_HUMAN cyclin H 187 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding ovary(2)|kidney(1) 3 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) CTGTTTTCCTCAAAATCTCTG 0.373 NaN Direct_reversal_of_damage|NER 0 0 0 0.00308 0 5 63 GPR98 84059 broad.mit.edu 37 5 90106693 90106693 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:90106693G>A uc003kju.2 + 74 15712 c.15616G>A c.(15616-15618)GAT>AAT p.D5206N GPR98_uc003kjt.2_Missense_Mutation_p.D2912N|GPR98_uc003kjw.2_Missense_Mutation_p.D867N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5206 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGAAAAGCCTGATGTGGCCAC 0.463 NaN 0 0 0 0.001168 0 5 50 FER 2241 broad.mit.edu 37 5 108516587 108516587 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:108516587G>A uc003kop.1 + 18 2572 c.2188G>A c.(2188-2190)GAA>AAA p.E730K FER_uc011cvg.1_Missense_Mutation_p.E555K NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 730 Protein kinase. E -> G (in Ref. 2; BAG61714). intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GACAGCACCGGAAGCTCTTAA 0.373 NaN 0 0 0 0.008291 0 10 52 WDR36 134430 broad.mit.edu 37 5 110462533 110462533 + Silent SNP C C T rs79307023 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:110462533C>T uc003kpd.2 + 23 2925 c.2808C>T c.(2806-2808)TTC>TTT p.F936F WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 936 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AATCACTCTTCAATCAAAGCA 0.323 NaN 0 0 0 0.014758 0 5 35 RAD50 10111 broad.mit.edu 37 5 131931309 131931309 + Nonsense_Mutation SNP C C T rs142947311 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:131931309C>T uc003kxi.2 + 13 2401 c.2014C>T c.(2014-2016)CAG>TAG p.Q672* RAD50_uc003kxh.2_Nonsense_Mutation_p.Q533* NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 672 Zinc-hook.|Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTCATTACTCAGCTAACAGA 0.383 NaN Homologous_recombination 0 0 0 0.014758 0 5 46 SEC24A 10802 broad.mit.edu 37 5 134007548 134007548 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:134007548C>T uc003kzs.2 + 4 1077 c.789C>T c.(787-789)TAC>TAT p.Y263Y SEC24A_uc011cxu.1_Missense_Mutation_p.T31M NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 263 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAGTAGTTACGACGAGATTG 0.313 NaN 0 0 0 0.008291 0 7 46 PCDHA2 56146 broad.mit.edu 37 5 140175779 140175779 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:140175779C>A uc003lhd.2 + 1 1336 c.1230C>A c.(1228-1230)GAC>GAA p.D410E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D410E|PCDHA2_uc011czy.1_Missense_Mutation_p.D410E NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 410 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGCTGGACAGCGCCCTGG 0.622 NaN 1 0 5.03518e-11 0.007413 5.68828e-11 18 147 PCDHB5 26167 broad.mit.edu 37 5 140515575 140515575 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:140515575G>C uc003liq.2 + 1 776 c.559G>C c.(559-561)GAT>CAT p.D187H NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 187 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAATCGCGGAGATGGCAGAAA 0.517 NaN 0 0 0 0.00308 0 8 59 HDAC3 8841 broad.mit.edu 37 5 141008783 141008783 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:141008783C>T uc003llf.2 - 7 633 c.567G>A c.(565-567)ACG>ACA p.T189T HDAC3_uc003lle.1_Silent_p.T132T|HDAC3_uc010jgd.1_Silent_p.T114T|HDAC3_uc010jge.1_RNA NM_003883 NP_003874 O15379 HDAC3_HUMAN histone deacetylase 3 189 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GGAAGGACACCGTCATGACCC 0.443 NaN 0 0 0 0.009096 0 4 43 GRIA1 2890 broad.mit.edu 37 5 153144153 153144153 + Nonsense_Mutation SNP C C A rs149931571 byFrequency TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr5:153144153C>A uc003lva.3 + 12 2348 c.1983C>A c.(1981-1983)TAC>TAA p.Y661* GRIA1_uc003luy.3_Nonsense_Mutation_p.Y661*|GRIA1_uc003luz.3_Nonsense_Mutation_p.Y566*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.Y581*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.Y592*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.Y671*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.Y671* NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 661 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAATTGCCTACGGGACGCTGG 0.502 NaN 1 0 0.004672 0.004672 0.00487042 3 34 HIVEP1 3096 broad.mit.edu 37 6 12163852 12163852 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:12163852G>A uc003nac.2 + 9 7494 c.7315G>A c.(7315-7317)GGT>AGT p.G2439S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2439 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAGAACTTTGGGTACTCATAG 0.517 NaN 0 0 0 0.005443 0 27 72 HIVEP1 3096 broad.mit.edu 37 6 12164328 12164328 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:12164328C>T uc003nac.2 + 9 7970 c.7791C>T c.(7789-7791)ACC>ACT p.T2597T HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2597 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCAGCAGGACCGAGTCTCCTC 0.542 NaN 0 0 0 0.004672 0 3 41 ZKSCAN4 387032 broad.mit.edu 37 6 28219395 28219395 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:28219395C>T uc003nks.1 - 1 608 c.364G>A c.(364-366)GAG>AAG p.E122K ZKSCAN4_uc011dlb.1_Intron NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 122 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ACCACCTCCTCCCCGCTCTCT 0.592 NaN 0 0 0 0.014758 0 4 37 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:29910693A>G uc003nol.2 + 2 233 c.233A>G c.(232-234)CAG>CGG p.Q78R HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGGATAGAGCAGGAGGGGCCG 0.657 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 0 0 0 0.009096 0 3 25 MDC1 9656 broad.mit.edu 37 6 30673284 30673284 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:30673284G>C uc003nrg.3 - 10 4116 c.3676C>G c.(3676-3678)CAG>GAG p.Q1226E MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q833E NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1226 Pro-rich.|Interaction with the PRKDC complex. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTAGTAGCCTGAGAGGTGGGT 0.572 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.01441 0 51 205 CCHCR1 54535 broad.mit.edu 37 6 31122287 31122287 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:31122287G>A uc003nsr.3 - 4 643 c.520C>T c.(520-522)CTG>TTG p.L174L CCHCR1_uc011dne.1_Silent_p.L174L|CCHCR1_uc003nsq.3_Silent_p.L227L|CCHCR1_uc003nsp.3_Silent_p.L263L|CCHCR1_uc010jsk.1_Silent_p.L174L NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 174 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 TCTTGGTGCAGCCTCTGAACC 0.547 NaN 0 0 0 0.014323 0 22 474 MICA 4276 broad.mit.edu 37 6 31378387 31378387 + Silent SNP T T C rs78945208 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:31378387T>C uc003ntk.1 + 2 177 c.138T>C c.(136-138)CTT>CTC p.L46L MICA_uc003rxz.1_5'UTR RecName: Full=MHC class I polypeptide-related sequence A; Short=MIC-A; Flags: Precursor; 0 Ovarian(999;0.0253) CAGGGTTTCTTGCTGAGGTAC 0.532 NaN 0 0 0 0.004672 0 3 51 APOBEC2 10930 broad.mit.edu 37 6 41029212 41029212 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:41029212G>A uc003opl.2 + 2 424 c.277G>A c.(277-279)GAG>AAG p.E93K UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 93 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTAGAGGATGAGCATGCGGC 0.577 NaN 0 0 0 0.007413 0 20 82 SUPT3H 8464 broad.mit.edu 37 6 44797554 44797554 + Nonstop_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:44797554C>G uc003oxo.2 - 13 1304 c.986G>C c.(985-987)TGA>TCA p.*329S SUPT3H_uc003oxn.1_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvv.1_Nonstop_Mutation_p.*166S|SUPT3H_uc003oxp.2_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvw.1_Nonstop_Mutation_p.*232S NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 329 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 GTTGTCACATCAGCAGGCTAG 0.368 NaN 0 0 0 0.006122 0 17 120 ASCC3 10973 broad.mit.edu 37 6 101110370 101110370 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:101110370C>G uc003pqk.2 - 15 2658 c.2329G>C c.(2329-2331)GAT>CAT p.D777H ASCC3_uc011eai.1_Missense_Mutation_p.D679H NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 777 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTAAAACCATCTGGGAATAAT 0.358 NaN 0 0 0 0.009096 0 4 35 LAMA2 3908 broad.mit.edu 37 6 129674484 129674484 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:129674484G>C uc003qbn.2 + 32 4804 c.4699G>C c.(4699-4701)GAG>CAG p.E1567Q LAMA2_uc003qbo.2_Missense_Mutation_p.E1567Q NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1567 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCATGCACGCGAGGGCTGGGA 0.537 NaN 0 0 0 0.009096 0 4 64 SNX9 51429 broad.mit.edu 37 6 158296183 158296183 + Missense_Mutation SNP C C T rs140767756 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:158296183C>T uc003qqv.1 + 4 448 c.275C>T c.(274-276)TCG>TTG p.S92L NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 92 cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) CAGGCCAGTTCGTCGGCTGCC 0.488 NaN 0 0 0 0.001984 0 6 56 MAP3K4 4216 broad.mit.edu 37 6 161455436 161455436 + Nonsense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:161455436C>T uc003qtn.2 + 2 440 c.298C>T c.(298-300)CAG>TAG p.Q100* MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q100*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.Q100*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 100 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AACCAAACATCAGAGGAATAA 0.448 NaN 0 0 0 0.014758 0 5 44 DLL1 28514 broad.mit.edu 37 6 170592161 170592161 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr6:170592161G>A uc003qxm.2 - 10 2551 c.2081C>T c.(2080-2082)TCG>TTG p.S694L NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 694 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGAACAGCCCGAGTCCGGCCT 0.468 NaN 0 0 0 0.012319 0 19 123 C7orf28A 51622 broad.mit.edu 37 7 5944726 5944726 + Missense_Mutation SNP A A G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:5944726A>G uc003spf.2 + 7 614 c.524A>G c.(523-525)TAT>TGT p.Y175C NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 175 lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) TTCCCACAGTATTTGCAAACG 0.333 NaN 0 0 0 0.008291 0 11 92 EEPD1 80820 broad.mit.edu 37 7 36194706 36194706 + Missense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:36194706G>T uc003tfa.2 + 2 1413 c.773G>T c.(772-774)AGG>ATG p.R258M NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 258 DNA repair DNA binding 0 AGGGATGGGAGGCCTGTGCTG 0.647 NaN 1 0 0.00621372 0.006214 0.00645271 8 23 PKD1L1 168507 broad.mit.edu 37 7 47924229 47924229 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:47924229G>C uc003tny.1 - 19 3232 c.3232C>G c.(3232-3234)CAA>GAA p.Q1078E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1078 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ATTGCTTCTTGAATGTCACTG 0.448 NaN 0 0 0 0.00308 0 7 34 BAZ1B 9031 broad.mit.edu 37 7 72856883 72856883 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:72856883C>G uc003tyc.2 - 19 4440 c.4095G>C c.(4093-4095)AGG>AGC p.R1365S NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1365 Bromo. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) TCACAGGCTCCCTGTGGAGAA 0.552 NaN 0 0 0 0.00308 0 8 63 CYP3A5 1577 broad.mit.edu 37 7 99264653 99264653 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:99264653G>A uc003urq.2 - 5 441 c.354C>T c.(352-354)ATC>ATT p.I118I ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Silent_p.I5I|CYP3A5_uc011kiy.1_Silent_p.I108I|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 118 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) CAGCTAAAGAGATGGCACTTT 0.398 NaN 0 0 0 0.001984 0 6 45 MUC17 140453 broad.mit.edu 37 7 100682288 100682288 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:100682288G>C uc003uxp.1 + 3 7644 c.7591G>C c.(7591-7593)GAG>CAG p.E2531Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2531 Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCAGTCCTGAGGCTAGCAC 0.478 NaN 0 0 0 0.01441 0 47 341 POT1 25913 broad.mit.edu 37 7 124503417 124503417 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:124503417G>A uc003vlm.2 - 8 1134 c.533C>T c.(532-534)TCA>TTA p.S178L POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S47L|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 178 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TAGAAGAAATGATGCTCCGTC 0.378 NaN 0 0 0 0.001984 0 6 63 LRRC4 64101 broad.mit.edu 37 7 127669984 127669984 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:127669984G>C uc003vmk.2 - 2 847 c.710C>G c.(709-711)TCC>TGC p.S237C SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 237 LRR 7.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GCCATGGAAGGAGCCAGGCCT 0.562 NaN 0 0 0 0.004482 0 9 42 TNPO3 23534 broad.mit.edu 37 7 128641272 128641272 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:128641272G>A uc003vol.1 - 6 1087 c.713C>T c.(712-714)TCG>TTG p.S238L TNPO3_uc003vom.1_Missense_Mutation_p.S172L|TNPO3_uc010lly.1_Missense_Mutation_p.S238L|TNPO3_uc010llz.1_Missense_Mutation_p.S238L NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 238 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 TAGGTTAGACGAGGTCTTATC 0.478 NaN 0 0 0 0.016723 0 12 106 SVOPL 136306 broad.mit.edu 37 7 138312990 138312990 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:138312990C>T uc011kqh.1 - 10 982 c.982G>A c.(982-984)GGG>AGG p.G328R SVOPL_uc003vue.2_Missense_Mutation_p.G176R NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 328 integral to membrane transmembrane transporter activity 0 TGGCTCTCCCCTGAGTCCCCC 0.567 NaN 0 0 0 0.001168 0 6 49 EPHB6 2051 broad.mit.edu 37 7 142567711 142567711 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:142567711G>A uc011kst.1 + 17 3386 c.2599G>A c.(2599-2601)GAG>AAG p.E867K EPHB6_uc011ksu.1_Missense_Mutation_p.E867K|EPHB6_uc003wbs.2_Missense_Mutation_p.E575K|EPHB6_uc003wbt.2_Missense_Mutation_p.E341K|EPHB6_uc003wbu.2_Missense_Mutation_p.E575K|EPHB6_uc003wbv.2_Missense_Mutation_p.E251K NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 867 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GGACATGAGTGAGCAGGAGGT 0.498 NaN 0 0 0 0.001168 0 6 33 ABP1 26 broad.mit.edu 37 7 150558223 150558223 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:150558223C>G uc003why.1 + 6 6400 c.2182C>G c.(2182-2184)CGC>GGC p.R728G ABP1_uc003whz.1_Missense_Mutation_p.R728G|ABP1_uc003wia.1_Missense_Mutation_p.R747G NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 728 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CTACGTCCAGCGCTGGATCCC 0.532 NaN 0 0 0 0.014758 0 5 32 ASB10 136371 broad.mit.edu 37 7 150878047 150878047 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr7:150878047G>A uc003wjm.1 - 3 1344 c.1218C>T c.(1216-1218)GTC>GTT p.V406V ASB10_uc003wjl.1_Silent_p.V406V|ASB10_uc003wjn.1_Silent_p.V346V NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 361 ANK 7. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCCTGGCCAGACACGGACGG 0.692 NaN 0 0 0 0.009096 0 4 12 TEX15 56154 broad.mit.edu 37 8 30694583 30694583 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr8:30694583G>C uc003xil.2 - 3 8068 c.8068C>G c.(8068-8070)CCT>GCT p.P2690A NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2690 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGCCCAGAAGGAGATGGCTGT 0.453 NaN 0 0 0 0.004482 0 8 74 ZNF704 619279 broad.mit.edu 37 8 81577165 81577165 + Missense_Mutation SNP G G C rs145837256 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr8:81577165G>C uc003yby.1 - 6 1044 c.812C>G c.(811-813)CCA>CGA p.P271R NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 271 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) GCTTGAATCTGGGATGGGGAA 0.577 NaN 0 0 0 0.014758 0 5 100 MMP16 4325 broad.mit.edu 37 8 89130948 89130948 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr8:89130948C>A uc003yeb.3 - 5 1134 c.852G>T c.(850-852)CAG>CAT p.Q284H MMP16_uc003yec.2_Missense_Mutation_p.Q284H NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 284 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCTGGATGCCCTGTAAATCAT 0.403 NaN 1 0 0.000673444 0.008291 0.000713058 10 56 STK3 6788 broad.mit.edu 37 8 99761532 99761532 + Nonsense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr8:99761532G>C uc003yip.2 - 4 464 c.323C>G c.(322-324)TCA>TGA p.S108* STK3_uc003yio.2_Nonsense_Mutation_p.S136*|STK3_uc010mbm.1_Nonsense_Mutation_p.S108* NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 108 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) AATTATGTCTGAGACAGAGCC 0.323 NaN 0 0 0 0.016723 0 11 61 FAM135B 51059 broad.mit.edu 37 8 139268995 139268995 + Missense_Mutation SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr8:139268995T>A uc003yuy.2 - 5 476 c.305A>T c.(304-306)GAC>GTC p.D102V FAM135B_uc003yux.2_Missense_Mutation_p.D3V|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 102 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTCAGTGCGTCTTCCATCTG 0.403 NaN HNSCC(54;0.14) 0 0 0 0.009096 0 4 17 MPDZ 8777 broad.mit.edu 37 9 13147624 13147624 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:13147624C>T uc010mia.1 - 25 3721 c.3664G>A c.(3664-3666)GAA>AAA p.E1222K MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.E114K|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.E1222K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1222K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1222K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1222K NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1222 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACAGCTTGTTCATGGCTTGCA 0.443 NaN 0 0 0 0.00308 0 8 62 TOPORS 10210 broad.mit.edu 37 9 32544000 32544000 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:32544000C>T uc003zrb.2 - 3 690 c.523G>A c.(523-525)GAT>AAT p.D175N TOPORS_uc003zrc.2_Missense_Mutation_p.D108N NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 175 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AATCGTCGATCAGGGGTGACA 0.448 NaN 0 0 0 0.008291 0 11 63 FANCC 2176 broad.mit.edu 37 9 97897680 97897680 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:97897680C>T uc004avh.2 - 8 1053 c.791G>A c.(790-792)AGT>AAT p.S264N FANCC_uc004avi.3_Missense_Mutation_p.S264N NM_000136 NP_000127 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 264 protein complex assembly cytosol|nucleoplasm protein binding kidney(1) 1 Acute lymphoblastic leukemia(62;0.138) ATTTCTCTCACTGGAGATTAG 0.433 NaN D|Mis|N|F|S AML|leukemia Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.006214 0 10 40 KIAA1529 57653 broad.mit.edu 37 9 100082448 100082448 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:100082448G>C uc011lut.1 + 23 2442 c.1669G>C c.(1669-1671)GAG>CAG p.E557Q KIAA1529_uc004axe.1_Missense_Mutation_p.E557Q|KIAA1529_uc004axg.1_Missense_Mutation_p.E418Q|KIAA1529_uc011lus.1_Missense_Mutation_p.E375Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E418Q|KIAA1529_uc011luv.1_Missense_Mutation_p.E415Q NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCAGCTGACTGAGTGGCATTC 0.498 NaN 0 0 0 0.01441 0 44 157 SVEP1 79987 broad.mit.edu 37 9 113194246 113194246 + Missense_Mutation SNP A A G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:113194246A>G uc010mtz.2 - 32 5639 c.5302T>C c.(5302-5304)TAC>CAC p.Y1768H SVEP1_uc010mty.2_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1768 EGF-like 7; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAACATATGTAGGATCCATCT 0.378 NaN 0 0 0 0.009096 0 4 59 SLC25A25 114789 broad.mit.edu 37 9 130868072 130868072 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:130868072G>A uc004bte.2 + 6 739 c.710G>A c.(709-711)GGA>GAA p.G237E SLC25A25_uc004btb.2_Missense_Mutation_p.G271E|SLC25A25_uc004btc.2_Missense_Mutation_p.G257E|SLC25A25_uc004btd.2_Missense_Mutation_p.G269E|SLC25A25_uc004btf.2_Missense_Mutation_p.G134E NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 237 Solcar 1.|Mitochondrial matrix (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 ATTCGAGAAGGAGGGGCCAGG 0.587 NaN 0 0 0 0.003163 0 15 75 CARD9 64170 broad.mit.edu 37 9 139262242 139262242 + Silent SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr9:139262242G>A uc004chg.3 - 8 1282 c.1116C>T c.(1114-1116)GCC>GCT p.A372A CARD9_uc011mdw.1_Silent_p.A372A|CARD9_uc011mdx.1_Silent_p.A268A NM_052813 NP_434700 Q9H257 CARD9_HUMAN caspase recruitment domain protein 9 isoform 1 372 Potential. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity pancreas(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCAGGCCCCGGGCGTGCTGTG 0.701 NaN 0 0 0 0.014758 0 5 21 CXorf23 256643 broad.mit.edu 37 X 19973521 19973521 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:19973521G>A uc004czp.2 - 4 1438 c.1438C>T c.(1438-1440)CAT>TAT p.H480Y CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.H45Y|CXorf23_uc004czo.2_Missense_Mutation_p.H430Y NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 480 mitochondrion lung(1)|skin(1) 2 TTAACTTGATGGATTATTGTT 0.338 NaN 0 0 0 0.001984 0 6 50 DCAF8L1 139425 broad.mit.edu 37 X 27998745 27998745 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:27998745C>A uc004dbx.1 - 1 822 c.707G>T c.(706-708)AGT>ATT p.S236I NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 236 ovary(3)|skin(1) 4 ATCGTGACCACTCTCAAAGTT 0.517 NaN 1 0 2.74318e-10 0.006214 3.07327e-10 9 45 TAB3 257397 broad.mit.edu 37 X 30870918 30870918 + Missense_Mutation SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:30870918T>A uc004dcj.2 - 7 2350 c.1687A>T c.(1687-1689)AGC>TGC p.S563C TAB3_uc004dck.2_Missense_Mutation_p.S563C|TAB3_uc010ngl.2_Missense_Mutation_p.S563C NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 563 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 GTGGTGCAGCTGACTCTTCTG 0.458 NaN 0 0 0 0.014758 0 4 59 BCOR 54880 broad.mit.edu 37 X 39930940 39930940 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:39930940C>T uc004den.3 - 5 3293 c.3001G>A c.(3001-3003)GAA>AAA p.E1001K BCOR_uc004dep.3_Missense_Mutation_p.E1001K|BCOR_uc004deo.3_Intron|BCOR_uc004dem.3_Missense_Mutation_p.E1001K NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1001 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TGTAATCCTTCCATCTATGTA 0.303 NaN 0 0 0 0.004482 0 6 45 HSD17B10 3028 broad.mit.edu 37 X 53459194 53459194 + Splice_Site SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:53459194C>T uc004dsl.1 - 3 388 c.357_splice c.e3+1 p.D119_splice HSD17B10_uc004dsm.1_Splice_Site_p.D119_splice NM_004493 NP_004484 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity 0 NADH(DB00157) CAAGGCCTTACATCAAGAACT 0.502 NaN 0 0 0 0.014758 0 4 17 FAM120C 54954 broad.mit.edu 37 X 54185903 54185903 + Missense_Mutation SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:54185903C>G uc004dsz.3 - 2 929 c.846G>C c.(844-846)TGG>TGC p.W282C FAM120C_uc011moh.1_Missense_Mutation_p.W282C NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 282 ovary(1)|central_nervous_system(1) 2 TCTTCCCATTCCAGCTCAGTT 0.488 NaN 0 0 0 0.009096 0 4 89 DLG3 1741 broad.mit.edu 37 X 69670626 69670626 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:69670626C>T uc004dyi.1 + 6 1306 c.978C>T c.(976-978)TAC>TAT p.Y326Y DLG3_uc004dyj.1_5'Flank NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 326 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) CCCCTGACTACGCCAGCAGTA 0.532 NaN 0 0 0 0.014758 0 4 55 TEX11 56159 broad.mit.edu 37 X 70080735 70080735 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:70080735G>A uc004dyl.2 - 6 503 c.341C>T c.(340-342)TCA>TTA p.S114L TEX11_uc004dym.2_Missense_Mutation_p.S99L NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 114 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) ACTTTGTTCTGAGGCAAATGA 0.343 NaN 0 0 0 0.004672 0 3 24 MED12 9968 broad.mit.edu 37 X 70346320 70346320 + Missense_Mutation SNP G G A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:70346320G>A uc004dyy.2 + 19 2870 c.2671G>A c.(2671-2673)GAC>AAC p.D891N MED12_uc011mpq.1_Missense_Mutation_p.D891N|MED12_uc004dyz.2_Missense_Mutation_p.D891N|MED12_uc004dza.2_Missense_Mutation_p.D738N NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 891 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGGCCTCATCGACTTTGCCAT 0.537 NaN 0 0 0 0.003163 0 11 136 ATRX 546 broad.mit.edu 37 X 76937566 76937566 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:76937566G>C uc004ecp.3 - 9 3414 c.3182C>G c.(3181-3183)TCT>TGT p.S1061C ATRX_uc004ecq.3_Missense_Mutation_p.S1023C|ATRX_uc004eco.3_Missense_Mutation_p.S846C|ATRX_uc004ecr.2_Missense_Mutation_p.S993C|ATRX_uc010nlx.1_Missense_Mutation_p.S1032C|ATRX_uc010nly.1_Missense_Mutation_p.S1006C NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1061 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AGCATAATCAGATAATTCATC 0.333 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.008871 0 21 158 MORC4 79710 broad.mit.edu 37 X 106221416 106221416 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:106221416C>T uc004emu.3 - 8 1193 c.950G>A c.(949-951)AGA>AAA p.R317K MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R317K|MORC4_uc004emw.3_Missense_Mutation_p.R65K NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 317 ATP binding|zinc ion binding ovary(1) 1 AAAGGTGATTCTCACCTGCTT 0.378 NaN 0 0 0 0.016723 0 14 83 IRS4 8471 broad.mit.edu 37 X 107978480 107978480 + Silent SNP C C G TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:107978480C>G uc004eoc.2 - 1 1128 c.1095G>C c.(1093-1095)CCG>CCC p.P365P NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 365 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CCGGCTCGAGCGGCACCAAGC 0.637 NaN 0 0 0 0.004007 0 16 156 SAGE1 55511 broad.mit.edu 37 X 134993401 134993401 + Missense_Mutation SNP C C A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:134993401C>A uc004ezh.2 + 17 2223 c.2056C>A c.(2056-2058)CAG>AAG p.Q686K SAGE1_uc010nry.1_Missense_Mutation_p.Q655K|SAGE1_uc011mvv.1_Missense_Mutation_p.Q310K NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 686 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAATGGCCAACAGGCACCTGA 0.453 NaN 1 0 8.12818e-05 0.001984 8.70877e-05 6 78 GPR50 9248 broad.mit.edu 37 X 150345317 150345317 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:150345317G>C uc010ntg.1 + 1 259 c.124G>C c.(124-126)GAC>CAC p.D42H uc004fes.1_RNA|GPR50_uc011myc.1_Missense_Mutation_p.D42H NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 42 Helical; Name=1; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CATCGTTGTAGACCTAATCGG 0.507 NaN 0 0 0 0.010729 0 12 140 TMLHE 55217 broad.mit.edu 37 X 154743794 154743794 + Nonsense_Mutation SNP G G T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chrX:154743794G>T uc004fnn.2 - 4 657 c.491C>A c.(490-492)TCG>TAG p.S164* TMLHE_uc004fno.2_Nonsense_Mutation_p.S164*|TMLHE_uc004fnp.3_Nonsense_Mutation_p.S164* NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 164 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GCAATCTACCGATGGAACTTG 0.433 NaN 1 0 0.00198382 0.001984 0.00208417 6 109 SLAMF7 57823 broad.mit.edu 37 1 160721190 160721190 + Frame_Shift_Del DEL C C - TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr1:160721190delC uc001fwq.2 + 5 840 c.825delC c.(823-825)TGCfs p.C275fs SLAMF7_uc010pjn.1_Frame_Shift_Del_p.C181fs|SLAMF7_uc001fws.2_Frame_Shift_Del_p.C168fs|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Frame_Shift_Del_p.C144fs|SLAMF7_uc010pjp.1_Frame_Shift_Del_p.C128fs|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN SLAM family member 7 275 Cytoplasmic (Potential). cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity skin(2)|ovary(1) 3 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTAACATATGCCCCCATTCTG 0.468 NaN NaN NaN NaN NaN NaN 11 164 --- --- PCDH15 65217 broad.mit.edu 37 10 55973780 55973781 + Frame_Shift_Ins INS - - A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr10:55973780_55973781insA uc001jju.1 - 10 1408_1409 c.1013_1014insT c.(1012-1014)TTCfs p.F338fs PCDH15_uc010qhq.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhr.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhs.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qht.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhu.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc001jjv.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qhv.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhw.1_Frame_Shift_Ins_p.F301fs|PCDH15_uc010qhx.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhy.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhz.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qia.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qib.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc001jjw.2_Frame_Shift_Ins_p.F338fs NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 338 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GATGCATATGGAAAAATCGTGG 0.366 NaN HNSCC(58;0.16) NaN NaN NaN NaN NaN 8 57 --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr11:125505377_125505378insA uc009zbo.2 + 7 1559_1560 c.667_668insA c.(667-669)GAAfs p.E223fs CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 NaN Other_conserved_DNA_damage_response_genes NaN NaN NaN NaN NaN 8 126 --- --- A2BP1 54715 broad.mit.edu 37 16 7645615 7645616 + Frame_Shift_Ins INS - - CA TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr16:7645615_7645616insCA uc002cys.2 + 8 1521_1522 c.533_534insCA c.(532-534)GGCfs p.G178fs A2BP1_uc010buf.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyr.1_Frame_Shift_Ins_p.G177fs|A2BP1_uc002cyt.2_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uxz.1_Frame_Shift_Ins_p.G221fs|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uyb.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyw.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyy.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyx.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc010uyc.1_Frame_Shift_Ins_p.G198fs NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 178 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) AAATTACACGGCACCGTGGTAG 0.45 NaN NaN NaN NaN NaN NaN 8 133 --- --- MC4R 4160 broad.mit.edu 37 18 58038747 58038748 + Frame_Shift_Del DEL CA CA - TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr18:58038747_58038748delCA uc002lie.1 - 1 1254_1255 c.835_836delTG c.(835-837)TGCfs p.C279fs NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 279 Extracellular (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AGACATGAAGCACACACAATAT 0.421 NaN NaN NaN NaN NaN NaN 11 59 --- --- NKAIN4 128414 broad.mit.edu 37 20 61873940 61873941 + Frame_Shift_Del DEL AG AG - TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e9fb61d-c90d-440b-857a-12e1048435ea 7a00fec5-1f57-4aa2-891a-75c1ece8b60b g.chr20:61873940_61873941delAG uc002yek.2 - 6 657_658 c.567_568delCT c.(565-570)CTCTACfs p.L189fs NM_152864 NP_690603 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 189_190 integral to membrane|plasma membrane 0 all_cancers(38;2.72e-09) TTGACATGGTAGAGAGGAAATG 0.446 NaN NaN NaN NaN NaN NaN 36 247 --- ---