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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MTOR 2475 broad.mit.edu 37 1 11298657 11298657 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:11298657A>G uc001asd.2 - 12 1925 c.1804T>C c.(1804-1806)TTT>CTT p.F602L NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 602 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TGGCGAACAAATTGGGTCAGA 0.532 NA 8 5 0 0 0 0 SYTL1 84958 broad.mit.edu 37 1 27677312 27677312 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:27677312G>T uc001bnw.1 + 11 1200 c.1033G>T c.(1033-1035)GGC>TGC p.G345C SYTL1_uc001bnv.1_Missense_Mutation_p.G333C|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.G345C NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 345 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAGCTTCAGGGCCGCGTGCT 0.642 NA 20 24 2.71e-06 1.02e-05 1 0 BEND5 79656 broad.mit.edu 37 1 49202034 49202034 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:49202034C>T uc001crx.3 - 5 1029 c.985G>A c.(985-987)GCA>ACA p.A329T AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.A160T NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 329 BEN. skin(1) 1 ATCATAACTGCCAAGTTCTTC 0.483 NA 30 144 0 0 0 0 MYSM1 114803 broad.mit.edu 37 1 59131251 59131251 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:59131251T>C uc009wab.1 - 17 2107 c.2084A>G c.(2083-2085)TAT>TGT p.Y695C MYSM1_uc009waa.1_Missense_Mutation_p.Y101C|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 695 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) ATTTCGATTATAGGGACTAAC 0.333 NA 9 67 0 0 0 0 GBP7 388646 broad.mit.edu 37 1 89616146 89616146 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:89616146T>A uc001dna.2 - 6 877 c.738A>T c.(736-738)TTA>TTT p.L246F GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 246 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CAACATGGAGTAAGAGTTTTT 0.383 NA 22 49 0 0 0 0 LPPR4 9890 broad.mit.edu 37 1 99772515 99772515 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:99772515T>C uc001dse.2 + 7 2347 c.2241T>C c.(2239-2241)ACT>ACC p.T747T LPPR4_uc010oue.1_Silent_p.T689T NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 747 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCGAAAACACTAGAAATATCT 0.473 NA 23 55 0 0 0 0 SETDB1 9869 broad.mit.edu 37 1 150934615 150934615 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:150934615G>A uc001evu.2 + 17 3329 c.3139G>A c.(3139-3141)GAC>AAC p.D1047N SETDB1_uc001evv.2_Missense_Mutation_p.D1047N|SETDB1_uc009wmg.1_Missense_Mutation_p.D1047N NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1047 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGACACTGACGACCGAAACAA 0.279 NA 73 177 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152187879 152187879 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:152187879T>C uc001ezt.1 - 3 6302 c.6226A>G c.(6226-6228)AGG>GGG p.R2076G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2076 23 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGACTGCCTTGACCCAGAC 0.627 NA 4 274 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152286148 152286148 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:152286148G>C uc001ezu.1 - 3 1250 c.1214C>G c.(1213-1215)GCT>GGT p.A405G uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 405 Ser-rich.|Filaggrin 2. 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) TGCAGATGAAGCTTGCCCGCG 0.562 NA Ichthyosis 140 335 0 0 0 0 DENND1B 163486 broad.mit.edu 37 1 197480968 197480968 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:197480968C>T uc010ppe.1 - 21 1983 c.1645G>A c.(1645-1647)GGA>AGA p.G549R DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AGAATCTCTCCTAGTAAGTCC 0.418 NA 5 105 0 0 0 0 PFKFB2 5208 broad.mit.edu 37 1 207236550 207236550 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:207236550T>C uc001hfg.2 + 5 480 c.371T>C c.(370-372)ATT>ACT p.I124T PFKFB2_uc010psc.1_Missense_Mutation_p.I26T|PFKFB2_uc001hfh.2_Missense_Mutation_p.I124T|PFKFB2_uc009xcc.2_Missense_Mutation_p.I82T|PFKFB2_uc010psd.1_5'Flank NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 124 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) AATGGTCAGATTGCGGTAAGC 0.532 NA 9 98 0 0 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212521732 212521732 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:212521732A>T uc001hjb.2 + 7 1340 c.766A>T c.(766-768)ATT>TTT p.I256F PPP2R5A_uc010ptd.1_Missense_Mutation_p.I197F NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 256 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TCCCTCCAGTATTATCAATGG 0.368 NA 28 67 0 0 0 0 BPNT1 10380 broad.mit.edu 37 1 220253139 220253139 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:220253139G>C uc001hma.2 - 2 222 c.50C>G c.(49-51)TCT>TGT p.S17C BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.S17C|BPNT1_uc001hmb.3_Missense_Mutation_p.S17C NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 17 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) TTGAGCAATAGAATATGCGGA 0.413 NA 8 56 0 0 0 0 WDR64 128025 broad.mit.edu 37 1 241958516 241958516 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:241958516G>C uc001hzf.1 + 15 1787 c.1634G>C c.(1633-1635)AGA>ACA p.R545T WDR64_uc001hzg.1_Missense_Mutation_p.R458T NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 992 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CAGATTCGAAGATATCCCTTG 0.338 NA 28 117 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458107 248458107 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:248458107C>T uc010pzj.1 - 1 774 c.774G>A c.(772-774)ATG>ATA p.M258I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTGGGTCTCATATAGGTAA 0.483 NA 50 98 0 0 0 0 OR2T6 254879 broad.mit.edu 37 1 248551197 248551197 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:248551197C>A uc001iei.1 + 1 288 c.288C>A c.(286-288)GCC>GCA p.A96A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTCATCGCCTGCACTGCTC 0.532 NA 30 75 3.65e-15 1.45e-14 1 0 NMT2 9397 broad.mit.edu 37 10 15151773 15151773 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr10:15151773C>G uc001inz.1 - 11 1488 c.1404G>C c.(1402-1404)AAG>AAC p.K468N NMT2_uc001ioa.1_Missense_Mutation_p.K455N|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Missense_Mutation_p.K280N NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 468 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 CTATACCAAACTTGAGTTTTT 0.328 NA 14 91 0 0 0 0 OR52A4 390053 broad.mit.edu 37 11 5142746 5142746 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:5142746G>A uc001lzz.1 - 1 63 c.63C>T c.(61-63)ATC>ATT p.I21I OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAAACCGGGGATCCCAATAA 0.418 NA 24 119 0 0 0 0 OR5F1 338674 broad.mit.edu 37 11 55761646 55761646 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:55761646C>A uc010riv.1 - 1 456 c.456G>T c.(454-456)GGG>GGT p.G152G NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGTTCAGCAACCCTGCAGCAA 0.507 NA 11 60 9.7e-10 3.76e-09 1 0 GLYATL1 92292 broad.mit.edu 37 11 58723492 58723492 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:58723492C>G uc001nnf.2 + 8 1277 c.901C>G c.(901-903)CCA>GCA p.P301A uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P332A|GLYATL1_uc001nni.1_Missense_Mutation_p.P301A|GLYATL1_uc001nnj.1_Missense_Mutation_p.P301A Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 301 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GAATCTAGTTCCATTTTAGAC 0.388 NA 3 86 0 0 0 0 POLR2G 5436 broad.mit.edu 37 11 62532822 62532822 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:62532822C>T uc001nva.2 + 5 454 c.344C>T c.(343-345)TCA>TTA p.S115L POLR2G_uc001nvb.2_RNA NM_002696 NP_002687 P62487 RPB7_HUMAN DNA directed RNA polymerase II polypeptide G 115 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding 0 TCCATCCCTTCAGAGATGGAG 0.458 NA 28 288 0 0 0 0 NXF1 10482 broad.mit.edu 37 11 62569082 62569082 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:62569082C>T uc001nvf.1 - 7 797 c.661G>A c.(661-663)GAT>AAT p.D221N NXF1_uc001nvg.1_Missense_Mutation_p.D221N|NXF1_uc009yog.1_Missense_Mutation_p.D264N|NXF1_uc010rmh.1_Missense_Mutation_p.D84N NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 221 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TGGGAGCCATCGTATCGTTTG 0.507 NA 18 170 0 0 0 0 EHD1 10938 broad.mit.edu 37 11 64627443 64627443 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:64627443C>A uc001obu.1 - 3 1123 c.868G>T c.(868-870)GCC>TCC p.A290S EHD1_uc001obv.1_Missense_Mutation_p.A290S|EHD1_uc010rnq.1_Missense_Mutation_p.A304S NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 290 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 TTCCTGAGGGCGGCGTTTCGG 0.637 NA 46 32 3.22e-24 1.3e-23 1 0 ALKBH8 91801 broad.mit.edu 37 11 107431547 107431547 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:107431547C>T uc010rvr.1 - 2 148 c.73G>A c.(73-75)GCC>ACC p.A25T ALKBH8_uc009yxp.2_Missense_Mutation_p.A25T|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 25 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) GTATGCTTGGCTTTAATCTGT 0.348 NA 13 29 0 0 0 0 OR4D5 219875 broad.mit.edu 37 11 123811175 123811175 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:123811175T>C uc001pzk.1 + 1 852 c.852T>C c.(850-852)CCT>CCC p.P284P NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGCTGAATCCTGCCATCTATA 0.502 NA 22 86 0 0 0 0 C3AR1 719 broad.mit.edu 37 12 8211391 8211391 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:8211391C>T uc001qtv.1 - 2 1483 c.1391G>A c.(1390-1392)CGT>CAT p.R464H NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 464 Cytoplasmic (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) GTGGGTGGAACGTGTGAGCTC 0.473 NA 34 91 0 0 0 0 PHC1 1911 broad.mit.edu 37 12 9092018 9092018 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:9092018A>T uc001qvd.2 + 15 3134 c.2978A>T c.(2977-2979)AAG>ATG p.K993M PHC1_uc001qve.2_Missense_Mutation_p.K993M NM_004426 NP_004417 P78364 PHC1_HUMAN polyhomeotic 1-like 993 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|breast(1) 2 CCTGCCCTCAAGATCTGCGCC 0.488 NA 13 14 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9353588 9353588 + Silent SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:9353588G>C uc001qvl.2 - 6 599 c.570C>G c.(568-570)TCC>TCG p.S190S PZP_uc009zgl.2_Silent_p.S59S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AGAGGGGAAAGGACAACTGAT 0.498 NA 27 130 0 0 0 0 PRB4 5545 broad.mit.edu 37 12 11461798 11461798 + Missense_Mutation SNP C C T rs77336955 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:11461798C>T uc001qzf.1 - 3 153 c.119G>A c.(118-120)CGC>CAC p.R40H PRB4_uc001qzt.2_Missense_Mutation_p.R40H NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 40 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1. extracellular region ovary(1) 1 TCCTTGTGGGCGTCGTCCTTC 0.552 NA HNSCC(22;0.051) 33 444 0 0 0 0 DNM1L 10059 broad.mit.edu 37 12 32886735 32886735 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:32886735T>C uc001rld.2 + 13 1694 c.1533T>C c.(1531-1533)AAT>AAC p.N511N DNM1L_uc001rle.2_Silent_p.N511N|DNM1L_uc001rlf.2_Silent_p.N511N|DNM1L_uc010skh.1_Silent_p.N577N|DNM1L_uc001rlg.2_Silent_p.N577N|DNM1L_uc001rlh.2_Silent_p.N564N|DNM1L_uc010ski.1_Silent_p.N308N NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 511 Interaction with GSK3B.|B domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGAACAATAATATAGAGGTAA 0.303 NA 53 148 0 0 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46315837 46315837 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:46315837T>C uc001rox.2 - 15 4673 c.4386A>G c.(4384-4386)ATA>ATG p.I1462M SFRS2IP_uc001row.2_Missense_Mutation_p.I1147M NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1462 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CATTTCAGCCTATGTTTTTTT 0.378 NA 3 148 0 0 0 0 OR6C1 390321 broad.mit.edu 37 12 55714812 55714812 + Silent SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:55714812T>G uc010spi.1 + 1 429 c.429T>G c.(427-429)GTT>GTG p.V143V NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 CACTGCTTGTTTTTACTTCTT 0.408 NA 6 22 0 0 0 0 COQ10A 93058 broad.mit.edu 37 12 56663287 56663287 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:56663287T>C uc001sko.3 + 4 779 c.518T>C c.(517-519)ATT>ACT p.I173T COQ10A_uc001skp.3_Missense_Mutation_p.I141T|COQ10A_uc001skq.3_Missense_Mutation_p.I156T NM_144576 NP_653177 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A isoform a 173 mitochondrial inner membrane ovary(1) 1 TTAGAGACTATTTGGCGATTC 0.438 NA 22 143 0 0 0 0 LEMD3 23592 broad.mit.edu 37 12 65564805 65564805 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:65564805C>G uc001ssl.1 + 1 1435 c.1429C>G c.(1429-1431)CTC>GTC p.L477V LEMD3_uc009zqo.1_Missense_Mutation_p.L477V NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 477 Helical; (Potential). negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GTCGATGTTTCTCTTAACTGC 0.478 NA 23 38 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81777935 81777935 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:81777935A>T uc001szo.1 - 9 1012 c.851T>A c.(850-852)ATG>AAG p.M284K PPFIA2_uc010sue.1_Missense_Mutation_p.M184K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 210 ovary(3)|lung(2)|pancreas(1) 6 CATCTGGGCCATTTCATAGTT 0.413 NA 10 25 0 0 0 0 TMTC3 160418 broad.mit.edu 37 12 88589416 88589416 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:88589416A>G uc001tau.2 + 14 2955 c.2735A>G c.(2734-2736)AAT>AGT p.N912S NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 913 integral to membrane binding skin(1) 1 CGTATTTTAAATGGTGAATAA 0.333 NA 12 50 0 0 0 0 TXNRD1 7296 broad.mit.edu 37 12 104732985 104732985 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:104732985G>A uc010swk.1 + 16 1837 c.1815G>A c.(1813-1815)GCG>GCA p.A605A TXNRD1_uc010swl.1_Silent_p.A455A|TXNRD1_uc010swm.1_Silent_p.A507A|TXNRD1_uc010swn.1_Silent_p.A455A|TXNRD1_uc010swo.1_Silent_p.A455A|TXNRD1_uc010swp.1_Silent_p.A417A|TXNRD1_uc010swq.1_Silent_p.A505A|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.A521A NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 605 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TTGCAGCTGCGCTCAAATGTG 0.433 NA 9 29 0 0 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958362 122958362 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:122958362C>A uc001ucn.2 - 14 1937 c.1806G>T c.(1804-1806)GAG>GAT p.E602D ZCCHC8_uc001ucl.2_Missense_Mutation_p.E213D|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E364D|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E364D|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E364D NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 602 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GTGATGTCACCTCAGAGTCTG 0.463 NA 7 250 0.00198382 0.00719273 1 0 RIMBP2 23504 broad.mit.edu 37 12 130921489 130921489 + Silent SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:130921489T>G uc001uil.2 - 10 2117 c.1953A>C c.(1951-1953)TCA>TCC p.S651S RIMBP2_uc001uim.2_Silent_p.S559S|RIMBP2_uc001uin.1_Silent_p.S310S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 651 Pro-rich. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCGGCTGGGTGAGGGCGACC 0.726 NA 6 18 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23910945 23910945 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:23910945T>A uc001uon.2 - 10 7659 c.7070A>T c.(7069-7071)GAA>GTA p.E2357V SACS_uc001uoo.2_Missense_Mutation_p.E2210V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2357 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGAAACCTTTTCTGAGTCAAC 0.333 NA 25 50 0 0 0 0 FOXO1 2308 broad.mit.edu 37 13 41134865 41134865 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:41134865C>T uc001uxl.3 - 2 1148 c.763G>A c.(763-765)GCA>ACA p.A255T FOXO1_uc010acc.1_Missense_Mutation_p.A70T NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 255 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TCCATGGATGCAGCTCTTCTC 0.517 NA 18 149 0 0 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148997 45148997 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:45148997G>A uc001uzn.3 - 1 1705 c.1214C>T c.(1213-1215)TCG>TTG p.S405L TSC22D1_uc001uzo.1_Missense_Mutation_p.S405L NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 405 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCTGAACCTCGAAGTGTTAAC 0.438 NA 25 83 0 0 0 0 OLFM4 10562 broad.mit.edu 37 13 53608558 53608558 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:53608558T>A uc001vhl.2 + 2 280 c.280T>A c.(280-282)TTT>ATT p.F94I OLFM4_uc001vhk.1_Missense_Mutation_p.F94I NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 94 cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGACACCACCTTTCCCGTGGA 0.443 NA 10 84 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60413536 60413536 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:60413536C>A uc001vht.2 - 23 3003 c.2784G>T c.(2782-2784)CAG>CAT p.Q928H DIAPH3_uc001vhu.2_Missense_Mutation_p.Q665H NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 928 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GCTGTTGAAGCTGCCTTCCCA 0.383 NA 16 38 1.15e-07 4.41e-07 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455394 84455394 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:84455394A>T uc001vlk.2 - 1 1135 c.249T>A c.(247-249)AAT>AAA p.N83K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 83 Extracellular (Potential).|LRR 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AACTAACCGCATTATAAAAGT 0.463 NA 31 65 0 0 0 0 COL4A2 1284 broad.mit.edu 37 13 111102707 111102707 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:111102707C>G uc001vqx.2 + 20 1534 c.1245C>G c.(1243-1245)CCC>CCG p.P415P NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 415 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCGGAGACCCCGGCATCCCTG 0.637 NA 3 81 0 0 0 0 NID2 22795 broad.mit.edu 37 14 52520462 52520462 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:52520462G>T uc001wzo.2 - 5 1498 c.1264C>A c.(1264-1266)CCC>ACC p.P422T NID2_uc010tqs.1_Missense_Mutation_p.P422T|NID2_uc010tqt.1_Missense_Mutation_p.P422T|NID2_uc001wzp.2_Missense_Mutation_p.P422T NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 422 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TCTGGGTAGGGCTGGATGCTT 0.552 NA 23 59 1.11e-12 4.37e-12 1 0 SYNE2 23224 broad.mit.edu 37 14 64468762 64468762 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:64468762A>T uc001xgm.2 + 29 3979 c.3749A>T c.(3748-3750)CAT>CTT p.H1250L SYNE2_uc001xgl.2_Missense_Mutation_p.H1250L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1250 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGGATTTCATCTCATTGAT 0.418 NA 33 81 0 0 0 0 C14orf179 112752 broad.mit.edu 37 14 76549919 76549919 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:76549919G>C uc010asm.1 + 9 660 c.626G>C c.(625-627)TGA>TCA p.*209S C14orf179_uc001xsg.2_Nonstop_Mutation_p.*214S|C14orf179_uc010tve.1_RNA NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 209 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) AGGCACACCTGAGCCCGTCAC 0.507 NA 6 57 0 0 0 0 ESRRB 2103 broad.mit.edu 37 14 76957942 76957942 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:76957942C>T uc001xsq.1 + 6 1007 c.940C>T c.(940-942)CTC>TTC p.L314F ESRRB_uc001xsr.2_Missense_Mutation_p.L314F|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 314 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) GCACTCCCGCCTCGCGGGGCT 0.592 NA 4 9 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88945598 88945598 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:88945598C>G uc001xwv.3 - 13 2508 c.2177G>C c.(2176-2178)CGG>CCG p.R726P PTPN21_uc010twc.1_Missense_Mutation_p.R522P NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 726 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 AGGAGGCGCCCGGGCCCCGCT 0.701 NA 3 20 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889583 23889583 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:23889583A>G uc001ywj.3 - 1 1593 c.1498T>C c.(1498-1500)TCC>CCC p.S500P NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCTAAATAGGATGCCACCAAA 0.423 NA 5 40 0 0 0 0 NDN 4692 broad.mit.edu 37 15 23931584 23931584 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:23931584A>G uc001ywk.2 - 1 867 c.781T>C c.(781-783)TTT>CTT p.F261L NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 261 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGCCCCAAAAGAACTCGTAT 0.572 NA Prader-Willi_syndrome 5 56 0 0 0 0 PYGO1 26108 broad.mit.edu 37 15 55838317 55838317 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:55838317T>A uc010bfl.1 - 3 1220 c.1164A>T c.(1162-1164)GCA>GCT p.A388A PYGO1_uc002adf.1_Silent_p.A388A NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 388 PHD-type. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) AGCCCCATACTGCAGATGCTT 0.448 NA 25 60 0 0 0 0 LRRC28 123355 broad.mit.edu 37 15 99901641 99901641 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:99901641G>A uc002bva.1 + 8 951 c.796G>A c.(796-798)GAG>AAG p.E266K LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.E112K|LRRC28_uc010urt.1_Missense_Mutation_p.E80K|LRRC28_uc002bvc.1_Missense_Mutation_p.E266K|LRRC28_uc010uru.1_Missense_Mutation_p.E197K|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 266 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CATAGGGACGGAGCATGATCA 0.522 NA OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 63 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18875116 18875116 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr16:18875116T>C uc002dfm.2 - 25 3914 c.3551A>G c.(3550-3552)AAT>AGT p.N1184S SMG1_uc010bwb.2_Missense_Mutation_p.N1044S NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1184 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TCCTAAATAATTTATAACCTC 0.403 NA 13 36 0 0 0 0 CHST4 10164 broad.mit.edu 37 16 71570812 71570812 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr16:71570812G>A uc002fan.2 + 2 413 c.232G>A c.(232-234)GTG>ATG p.V78M CHST4_uc002fao.2_Missense_Mutation_p.V78M NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 78 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 CGCCTGGCACGTGTGGATGAC 0.577 NA 30 62 0 0 0 0 OR1A2 26189 broad.mit.edu 37 17 3101177 3101177 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:3101177G>A uc002fvd.1 + 1 365 c.365G>A c.(364-366)CGA>CAA p.R122Q NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GCATACGATCGAGCTGTGGCC 0.483 NA 32 60 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATAAGATGCTGAGGAGGGGCC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 21 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7752094 7752094 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:7752094G>A uc002giw.1 + 11 2864 c.2488G>A c.(2488-2490)GGG>AGG p.G830R KDM6B_uc002gix.2_Missense_Mutation_p.G132R NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 830 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CACCCGGCCTGGGCCCTTGCC 0.657 NA 9 131 0 0 0 0 ICAM2 3384 broad.mit.edu 37 17 62081229 62081229 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:62081229G>T uc002jdu.3 - 3 656 c.424C>A c.(424-426)CTG>ATG p.L142M C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.L142M|ICAM2_uc010ded.2_Missense_Mutation_p.L142M|ICAM2_uc002jdx.3_Missense_Mutation_p.L142M|ICAM2_uc002jdv.3_Missense_Mutation_p.L142M NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 142 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 AGGCTGTCCAGGGGCTCCACG 0.607 NA 7 45 0.000157383 0.000575447 1 0 MAPK4 5596 broad.mit.edu 37 18 48252451 48252451 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr18:48252451C>T uc002lev.2 + 5 1973 c.973C>T c.(973-975)CAA>TAA p.Q325* MAPK4_uc010xdm.1_Nonsense_Mutation_p.Q114*|MAPK4_uc010doz.2_Intron NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 325 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) GCCCACCTCACAACACCCCTT 0.582 NA 36 31 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64172067 64172067 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr18:64172067T>A uc002lkc.1 - 12 2439 c.2301A>T c.(2299-2301)GCA>GCT p.A767A CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 767 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TTGACTGCACTGCAGAACCAA 0.368 NA 18 19 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8191467 8191467 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:8191467C>T uc002mjf.2 - 19 2460 c.2439G>A c.(2437-2439)TGG>TGA p.W813* NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 813 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGATCTTCAGCCAGCAGGTGC 0.677 NA 6 12 0 0 0 0 OR10H2 26538 broad.mit.edu 37 19 15839701 15839701 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:15839701C>T uc002nbm.2 + 1 868 c.848C>T c.(847-849)ACG>ATG p.T283M NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCAGTCCTCACGCCCTTCCTC 0.547 NA 29 119 0 0 0 0 MEF2B 100271849 broad.mit.edu 37 19 19260222 19260222 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:19260222C>G uc002nlm.2 - 3 185 c.71G>C c.(70-72)CGG>CCG p.R24P MEF2B_uc002nln.2_Missense_Mutation_p.R71P|MEF2B_uc002nll.2_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R24P|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R24P|MEF2B_uc002nlk.2_Missense_Mutation_p.R24P NM_001145785 NP_001139257 myocyte enhancer factor 2B isoform a skin(1) 1 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CCCGAACTTCCGCTTGGTGAA 0.562 NA 16 54 0 0 0 0 ZNF43 7594 broad.mit.edu 37 19 21990434 21990434 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:21990434G>A uc002nqj.2 - 4 2535 c.2405C>T c.(2404-2406)CCT>CTT p.P802L ZNF43_uc010ecv.2_Missense_Mutation_p.P796L|ZNF43_uc002nql.2_Missense_Mutation_p.P796L|ZNF43_uc002nqm.2_Missense_Mutation_p.P796L|ZNF43_uc002nqk.2_Missense_Mutation_p.P732L NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AAAAGTTTGAGGTGTTGTCAA 0.313 NA 9 43 0 0 0 0 NR1H2 7376 broad.mit.edu 37 19 50881485 50881485 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:50881485C>T uc010enw.2 + 5 537 c.261C>T c.(259-261)TGC>TGT p.C87C NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.C87C|NR1H2_uc002psa.3_Intron NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 87 Nuclear receptor.|NR C4-type. negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACGAGCTTTGCCGTGTCTGTG 0.637 NA 5 161 0 0 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984689 51984689 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:51984689T>C uc002pwv.1 + 4 626 c.626T>C c.(625-627)CTG>CCG p.L209P NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 209 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCAGCTCCCTGGTGGAGAAC 0.507 NA 27 23 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15415923 15415923 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:15415923C>T uc002rcc.1 - 44 5435 c.5409G>A c.(5407-5409)CTG>CTA p.L1803L NBAS_uc010exl.1_Silent_p.L875L|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1803 ovary(2)|liver(1)|skin(1) 4 TTTCATCTGTCAGCTTTTTGT 0.363 NA 6 93 0 0 0 0 AGBL5 60509 broad.mit.edu 37 2 27278036 27278036 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:27278036C>T uc002rie.2 + 6 1040 c.823C>T c.(823-825)CCC>TCC p.P275S AGBL5_uc002ric.2_Missense_Mutation_p.P275S|AGBL5_uc002rid.2_Missense_Mutation_p.P275S|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 275 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGATGATCCCCGGGCCCA 0.537 NA 29 189 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116510763 116510763 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:116510763A>C uc002tla.1 + 11 1421 c.964A>C c.(964-966)ACT>CCT p.T322P DPP10_uc002tlb.1_Missense_Mutation_p.T272P|DPP10_uc002tlc.1_Missense_Mutation_p.T318P|DPP10_uc002tle.2_Missense_Mutation_p.T326P|DPP10_uc002tlf.1_Missense_Mutation_p.T315P NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 322 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATACTATATCACTATGGTTAA 0.358 NA 5 34 0 0 0 0 ZRANB3 84083 broad.mit.edu 37 2 136111147 136111147 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:136111147C>G uc002tum.2 - 4 349 c.232G>C c.(232-234)GAG>CAG p.E78Q ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.E78Q|ZRANB3_uc002tun.1_Missense_Mutation_p.E18Q NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 78 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) GGCCATTCCTCTTTATAGAAG 0.318 NA 3 44 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141299370 141299370 + Silent SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:141299370A>T uc002tvj.1 - 44 8337 c.7365T>A c.(7363-7365)GCT>GCA p.A2455A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2455 Extracellular (Potential).|LDL-receptor class B 27. 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) CATTGGCAACAGCTATGATTC 0.363 NA TSP Lung(27;0.18) 9 137 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163228467 163228467 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:163228467G>T uc002uch.1 - 16 3675 c.3463C>A c.(3463-3465)CAC>AAC p.H1155N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 1155 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TGCCGCAGGTGAAGCTCTAAA 0.428 NA 8 47 1.13e-05 4.18e-05 1 0 SCN1A 6323 broad.mit.edu 37 2 166901572 166901572 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:166901572C>G uc010zcz.1 - 10 1661 c.1643G>C c.(1642-1644)AGG>ACG p.R548T SCN1A_uc002udo.3_Missense_Mutation_p.R417T|SCN1A_uc010fpk.2_Missense_Mutation_p.R417T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 548 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAGGAGTACCTCTTTTCATA 0.433 NA 44 82 0 0 0 0 PLCB4 5332 broad.mit.edu 37 20 9364994 9364994 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:9364994G>A uc002wnf.2 + 13 1136 c.1000G>A c.(1000-1002)GGC>AGC p.G334S PLCB4_uc010gbw.1_Missense_Mutation_p.G334S|PLCB4_uc010gbx.2_Missense_Mutation_p.G334S|PLCB4_uc002wne.2_Missense_Mutation_p.G334S|PLCB4_uc002wnh.2_Missense_Mutation_p.G181S NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 334 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 TTATCTCACTGGCAGACAGTT 0.463 NA 35 71 0 0 0 0 PLK1S1 55857 broad.mit.edu 37 20 21143094 21143094 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:21143094G>A uc002wsb.2 + 5 1121 c.988G>A c.(988-990)GAA>AAA p.E330K PLK1S1_uc010zsh.1_Missense_Mutation_p.E227K|PLK1S1_uc010zsi.1_Missense_Mutation_p.E197K|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 330 spindle organization centrosome protein kinase binding 0 AGAATACTGTGAATCTGAAAA 0.468 NA 8 20 0 0 0 0 NKX2-4 644524 broad.mit.edu 37 20 21377938 21377938 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:21377938C>T uc010gcz.2 - 1 110 c.100G>A c.(100-102)GCG>ACG p.A34T NM_033176 NP_149416 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 34 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ccgggtggcgcgccgTCCATG 0.517 NA 4 7 0 0 0 0 NINL 22981 broad.mit.edu 37 20 25459583 25459583 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:25459583T>C uc002wux.1 - 16 2251 c.2177A>G c.(2176-2178)CAT>CGT p.H726R NINL_uc010gdn.1_Missense_Mutation_p.H726R|NINL_uc010gdo.1_Missense_Mutation_p.H509R NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 726 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GTGGCTGTGATGCCGCAGGGC 0.582 NA 33 73 0 0 0 0 GSS 2937 broad.mit.edu 37 20 33524591 33524591 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:33524591G>A uc002xbg.2 - 8 822 c.742C>T c.(742-744)CTG>TTG p.L248L GSS_uc010zun.1_Silent_p.L120L|GSS_uc010zuo.1_Silent_p.L137L|GSS_uc010zup.1_Silent_p.L179L|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 248 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCTTGGTCCAGAGACCCCTTT 0.473 NA 43 226 0 0 0 0 EEF1A2 1917 broad.mit.edu 37 20 62122079 62122079 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:62122079G>A uc002yfd.1 - 5 883 c.782C>T c.(781-783)ACG>ATG p.T261M EEF1A2_uc002yfe.1_Missense_Mutation_p.T261M|EEF1A2_uc010gkg.1_Missense_Mutation_p.T261M NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 261 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACGGGCACCGTGCCAATGCC 0.647 NA 18 41 0 0 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20127041 20127041 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr22:20127041G>A uc002zrq.2 + 3 373 c.267G>A c.(265-267)CCG>CCA p.P89P ZDHHC8_uc002zrr.1_Silent_p.P89P|ZDHHC8_uc010gsa.2_5'UTR NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 89 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) TCCGGGCTCCGCTGTACAAGA 0.607 NA 61 44 0 0 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33885692 33885692 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:33885692A>C uc003cfx.2 + 11 1603 c.1448A>C c.(1447-1449)GAA>GCA p.E483A PDCD6IP_uc003cfy.2_Missense_Mutation_p.E488A|PDCD6IP_uc011axw.1_Missense_Mutation_p.E264A NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 483 Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 CCATCCAATGAACTGTATAAG 0.343 NA 4 63 0 0 0 0 WDR53 348793 broad.mit.edu 37 3 196281606 196281606 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:196281606T>C uc003fwt.2 - 4 1024 c.553A>G c.(553-555)ATG>GTG p.M185V NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 185 breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGGCCTTCCATTTCTTCTGTT 0.438 NA 80 288 0 0 0 0 CNGA1 1259 broad.mit.edu 37 4 47939078 47939078 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:47939078C>T uc003gxt.3 - 11 1699 c.1433G>A c.(1432-1434)CGC>CAC p.R478H uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R547H NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 478 Extracellular (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 AGCAAAAATGCGTACCTTTTT 0.378 NA 22 92 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956863 73956863 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:73956863T>A uc003hgp.2 - 29 6599 c.6482A>T c.(6481-6483)CAG>CTG p.Q2161L ANKRD17_uc003hgo.2_Missense_Mutation_p.Q2048L|ANKRD17_uc003hgq.2_Missense_Mutation_p.Q1910L|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q2160L NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2161 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CATTGGTGTCTGAGGCATAGG 0.532 NA 39 170 0 0 0 0 DMP1 1758 broad.mit.edu 37 4 88584472 88584472 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:88584472G>C uc003hqv.2 + 6 1646 c.1542G>C c.(1540-1542)TAG>TAC p.*514Y DMP1_uc003hqw.2_Nonstop_Mutation_p.*498Y NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 514 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) ACGGCTATTAGCATCAGCTGT 0.373 NA 32 134 0 0 0 0 PDHA2 5161 broad.mit.edu 37 4 96761919 96761919 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:96761919C>T uc003htr.3 + 1 681 c.618C>T c.(616-618)TTC>TTT p.F206F NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 206 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCGAAGCTTTCAATATGGCAG 0.443 NA 14 49 0 0 0 0 C4orf31 79625 broad.mit.edu 37 4 121958183 121958183 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:121958183A>T uc003idq.1 - 4 1470 c.943T>A c.(943-945)TTT>ATT p.F315I NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 315 Fibronectin type-III 1. 0 TTGACCACAAATACATCAAAG 0.453 NA 15 71 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79027402 79027402 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:79027402T>C uc003kgc.2 + 2 2886 c.2814T>C c.(2812-2814)GAT>GAC p.D938D NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 938 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGAAGAAGATCAAGAAGACA 0.413 NA 48 39 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90041015 90041015 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:90041015C>G uc003kju.2 + 51 10798 c.10702C>G c.(10702-10704)CTA>GTA p.L3568V GPR98_uc003kjt.2_Missense_Mutation_p.L1274V|GPR98_uc003kjv.2_Missense_Mutation_p.L1168V NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3568 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) TTTAATAGCTCTAGTGGGAGC 0.368 NA 40 134 0 0 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741393 156741393 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:156741393G>A uc003lwq.2 + 14 1290 c.1152G>A c.(1150-1152)GAG>GAA p.E384E CYFIP2_uc011ddn.1_Silent_p.E358E|CYFIP2_uc011ddo.1_Silent_p.E188E|CYFIP2_uc003lwr.2_Silent_p.E384E|CYFIP2_uc003lws.2_Silent_p.E384E|CYFIP2_uc003lwt.2_Silent_p.E262E|CYFIP2_uc011ddp.1_Silent_p.E118E NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 384 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTCAGACGAGGAGTATCGCG 0.517 NA 22 35 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176519733 176519733 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:176519733A>G uc003mfl.2 + 8 1172 c.1005A>G c.(1003-1005)GCA>GCG p.A335A FGFR4_uc003mfm.2_Silent_p.A335A|FGFR4_uc011dfu.1_Silent_p.A335A|FGFR4_uc011dfw.1_Silent_p.A335A|FGFR4_uc003mfo.2_Silent_p.A335A NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 335 Extracellular (Potential).|Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCTGCCTCGCAGGCAATTCCA 0.637 NA TSP Lung(9;0.080) 23 31 0 0 0 0 PRPF4B 8899 broad.mit.edu 37 6 4037761 4037761 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:4037761C>T uc003mvv.2 + 3 1460 c.1369C>T c.(1369-1371)CGT>TGT p.R457C PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 457 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCCACTCAGACGTAGCAGGTC 0.448 NA 20 41 0 0 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205025 26205025 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:26205025C>A uc003ngy.2 + 1 153 c.153C>A c.(151-153)ATC>ATA p.I51I NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 51 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) CTGGTCTCATCTACGAGGAGA 0.562 NA 38 68 7e-10 2.72e-09 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27834842 27834842 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:27834842G>C uc003njx.2 - 1 518 c.466C>G c.(466-468)CCG>GCG p.P156A NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 156 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 GCCTTCTTCGGAGTCTTCTTC 0.602 NA 5 231 0 0 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283873 33283873 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:33283873G>A uc003oeb.2 - 2 973 c.821C>T c.(820-822)GCA>GTA p.A274V TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.A274V NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGGAACCACTGCCCCCCTCCC 0.607 NA 12 45 0 0 0 0 BYSL 705 broad.mit.edu 37 6 41889501 41889501 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:41889501G>C uc003orl.2 + 1 537 c.201G>C c.(199-201)GAG>GAC p.E67D MED20_uc003orj.2_5'Flank|MED20_uc003ork.2_5'Flank|MED20_uc011duh.1_5'Flank|MED20_uc011dui.1_5'Flank|MED20_uc011duj.1_5'Flank NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 67 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCAACAGGAGGAACTCGAGG 0.677 NA OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 26 0 0 0 0 PRIM2 5558 broad.mit.edu 37 6 57512691 57512691 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:57512691G>A uc003pdx.2 + 15 1606 c.1519G>A c.(1519-1521)GAA>AAA p.E507K NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 507 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTACTTTAGTGAAGATTCTTA 0.333 NA 16 473 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83849755 83849755 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:83849755G>A uc003pjs.1 + 22 5417 c.5157G>A c.(5155-5157)ATG>ATA p.M1719I DOPEY1_uc011dyy.1_Missense_Mutation_p.M1710I|DOPEY1_uc010kbl.1_Missense_Mutation_p.M1710I|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1719 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CACCAGATATGATTCTTACTC 0.338 NA 9 41 0 0 0 0 PGM3 5238 broad.mit.edu 37 6 83896760 83896760 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:83896760C>T uc003pjv.2 - 4 464 c.424G>A c.(424-426)GAT>AAT p.D142N PGM3_uc003pjw.2_Missense_Mutation_p.D61N|PGM3_uc011dyz.1_Missense_Mutation_p.D170N NM_015599 NP_056414 O95394 AGM1_HUMAN phosphoglucomutase 3 142 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity 0 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GTCACACCATCTATTACAGAT 0.328 NA 20 61 0 0 0 0 RRAGD 58528 broad.mit.edu 37 6 90097155 90097155 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:90097155G>T uc003pnd.3 - 2 586 c.303C>A c.(301-303)TGC>TGA p.C101* RRAGD_uc010kcc.2_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 101 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CATCTTCCCGGCATATCTTAT 0.428 NA 98 190 5.01e-43 2.03e-42 1 0 WASF1 8936 broad.mit.edu 37 6 110421867 110421867 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:110421867T>C uc003ptv.1 - 11 2375 c.1538A>G c.(1537-1539)AAA>AGA p.K513R WASF1_uc003ptw.1_Missense_Mutation_p.K513R|WASF1_uc003ptx.1_Missense_Mutation_p.K513R|WASF1_uc003pty.1_Missense_Mutation_p.K513R NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 513 WH2. actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CTCTTCTACTTTGCGTAGCTG 0.363 NA 14 27 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117724426 117724426 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:117724426C>T uc003pxp.1 - 6 652 c.453G>A c.(451-453)CCG>CCA p.P151P ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 151 Fibronectin type-III 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCACATAGGACGGTCTGGACA 0.473 NA T GOPC|ROS1 glioblastoma|NSCLC 11 26 0 0 0 0 PTPRK 5796 broad.mit.edu 37 6 128404886 128404886 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:128404886G>C uc003qbk.2 - 9 1916 c.1549C>G c.(1549-1551)CCA>GCA p.P517A PTPRK_uc003qbj.2_Missense_Mutation_p.P517A|PTPRK_uc010kfc.2_Missense_Mutation_p.P517A|PTPRK_uc011ebu.1_Missense_Mutation_p.P517A|PTPRK_uc003qbl.1_Missense_Mutation_p.P387A|PTPRK_uc011ebv.1_Missense_Mutation_p.P517A NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 517 Extracellular (Potential).|Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTCCATTTGGATCCAAAGGT 0.368 NA 23 99 0 0 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:139266690T>C uc003qii.2 - 3 1001 c.422A>G c.(421-423)AAG>AGG p.K141R REPS1_uc003qig.3_Missense_Mutation_p.K141R|REPS1_uc011edr.1_Missense_Mutation_p.K141R|REPS1_uc003qij.2_Missense_Mutation_p.K141R|REPS1_uc003qik.2_5'UTR NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478 NA 3 138 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11675953 11675953 + Nonsense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:11675953T>A uc003ssf.3 - 2 1078 c.826A>T c.(826-828)AGA>TGA p.R276* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 276 Extracellular (Potential).|Potential. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCCCGCGTCTCCTTGCTTGT 0.537 NA HNSCC(18;0.044) 32 95 0 0 0 0 STK31 56164 broad.mit.edu 37 7 23825129 23825129 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:23825129A>G uc003sws.3 + 18 2248 c.2181A>G c.(2179-2181)GAA>GAG p.E727E STK31_uc003swt.3_Silent_p.E704E|STK31_uc011jze.1_Silent_p.E727E|STK31_uc010kuq.2_Silent_p.E704E|STK31_uc003swv.1_5'Flank NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 727 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TGAGCTTGGAACGAGATCTTC 0.403 NA 35 90 0 0 0 0 NPC1L1 29881 broad.mit.edu 37 7 44556434 44556434 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:44556434G>A uc003tlb.2 - 17 3524 c.3468C>T c.(3466-3468)CTC>CTT p.L1156L NPC1L1_uc003tlc.2_Silent_p.L1129L|NPC1L1_uc011kbw.1_Silent_p.L1083L|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1156 Helical; Name=10; (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GGCCCAGCAGGAGGCAGGAGA 0.592 NA 14 42 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55210124 55210124 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:55210124C>G uc003tqk.2 + 2 480 c.234C>G c.(232-234)TTC>TTG p.F78L EGFR_uc003tqh.2_Missense_Mutation_p.F78L|EGFR_uc003tqi.2_Missense_Mutation_p.F78L|EGFR_uc003tqj.2_Missense_Mutation_p.F78L|EGFR_uc010kzg.1_Missense_Mutation_p.F78L|EGFR_uc011kco.1_Missense_Mutation_p.F25L NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 78 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATCTTTCCTTCTTAAAGGTTG 0.378 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 11 857 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57188238 57188238 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:57188238C>G uc010kzo.2 - 5 1155 c.884G>C c.(883-885)AGA>ACA p.R295T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTTGTAGGGTCTCTCTCCAGT 0.473 NA 6 70 0 0 0 0 POM121 9883 broad.mit.edu 37 7 72413634 72413634 + Silent SNP G G A rs139238552 byFrequency TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:72413634G>A uc003twk.2 + 11 3102 c.3102G>A c.(3100-3102)ACG>ACA p.T1034T POM121_uc003twj.2_Silent_p.T769T|POM121_uc010lam.1_Silent_p.T769T NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1034 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) GCGGTGCCACGCACTCGGCGT 0.652 NA 18 154 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87913172 87913172 + Nonsense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:87913172G>C uc003ujs.2 - 2 518 c.413C>G c.(412-414)TCA>TGA p.S138* STEAP4_uc010lek.2_Nonsense_Mutation_p.S138*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.S138* NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 138 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) AGCCCAGGCTGAGATGGTGTT 0.418 NA 404 101 0 0 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513012 106513012 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:106513012G>A uc003vdv.3 + 3 2111 c.2026G>A c.(2026-2028)GCC>ACC p.A676T PIK3CG_uc003vdu.2_Missense_Mutation_p.A676T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A676T NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 676 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CCATGATAGCGCCCTTGCCAG 0.393 NA 78 116 0 0 0 0 DOCK5 80005 broad.mit.edu 37 8 25154152 25154152 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:25154152C>T uc003xeg.2 + 7 731 c.594C>T c.(592-594)ATC>ATT p.I198I DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Silent_p.I198I NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 198 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGGAAAAGATCCAAGAAGAGA 0.448 NA 8 14 0 0 0 0 CDCA2 157313 broad.mit.edu 37 8 25365207 25365207 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:25365207C>G uc003xep.1 + 15 3504 c.3025C>G c.(3025-3027)CTG>GTG p.L1009V PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.L994V|CDCA2_uc003xer.1_Missense_Mutation_p.L672V NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 1009 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGAGAGCTCTCTGACTGCCTT 0.433 NA 15 99 0 0 0 0 KIAA0146 23514 broad.mit.edu 37 8 48614380 48614380 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:48614380A>G uc003xqd.2 + 13 1880 c.1871A>G c.(1870-1872)AAG>AGG p.K624R KIAA0146_uc011ldb.1_Missense_Mutation_p.K624R|KIAA0146_uc010lxs.2_Missense_Mutation_p.K99R|KIAA0146_uc011ldc.1_Missense_Mutation_p.K554R|KIAA0146_uc011ldd.1_Missense_Mutation_p.K564R|KIAA0146_uc003xqe.2_Missense_Mutation_p.K99R|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.K313R|KIAA0146_uc010lxt.2_Missense_Mutation_p.K313R|KIAA0146_uc011ldf.1_Missense_Mutation_p.K129R|KIAA0146_uc011ldg.1_Missense_Mutation_p.K114R|KIAA0146_uc010lxv.1_Missense_Mutation_p.K118R NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 624 0 Lung NSC(58;0.175) CCCATTTATAAGCTTTACCAG 0.428 NA 91 170 0 0 0 0 TRPA1 8989 broad.mit.edu 37 8 72948640 72948640 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:72948640G>A uc003xza.2 - 21 2613 c.2438C>T c.(2437-2439)ACG>ATG p.T813M uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 813 Helical; Name=3; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GATGCCCGTCGTGTAGATAAT 0.363 NA 14 53 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104987601 104987601 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:104987601C>G uc003yls.2 + 14 2369 c.2128C>G c.(2128-2130)CTT>GTT p.L710V RIMS2_uc003ylp.2_Missense_Mutation_p.L932V|RIMS2_uc003ylw.2_Missense_Mutation_p.L724V|RIMS2_uc003ylq.2_Missense_Mutation_p.L724V|RIMS2_uc003ylr.2_Missense_Mutation_p.L771V|RIMS2_uc003ylt.2_Missense_Mutation_p.L317V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 994 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTCGAGATCTTCAAAGCTC 0.358 NA HNSCC(12;0.0054) 8 29 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361225 105361225 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:105361225C>T uc003ylx.1 + 2 494 c.445C>T c.(445-447)CAG>TAG p.Q149* NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 149 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGAGGCAATTCAGTGGATTTA 0.418 NA 14 84 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113988168 113988168 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:113988168C>A uc003ynu.2 - 7 1399 c.1240G>T c.(1240-1242)GGG>TGG p.G414W CSMD3_uc003ynt.2_Missense_Mutation_p.G374W|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 414 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGAGAGAGCCCGTCCTTGGAC 0.478 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 117 6.33e-15 2.51e-14 1 0 COL22A1 169044 broad.mit.edu 37 8 139601580 139601580 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:139601580G>A uc003yvd.2 - 65 5244 c.4797C>T c.(4795-4797)CCC>CCT p.P1599P COL22A1_uc011ljo.1_Silent_p.P879P NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1599 Pro-rich.|Gly-rich.|Collagen-like 16. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGGGGACCGGGAGGTCCTG 0.622 NA HNSCC(7;0.00092) 7 36 0 0 0 0 ZNF250 58500 broad.mit.edu 37 8 146107136 146107136 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:146107136C>G uc003zeq.3 - 6 1564 c.1447G>C c.(1447-1449)GAA>CAA p.E483Q COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E478Q|ZNF250_uc010mgg.2_Missense_Mutation_p.E478Q NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 483 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TTGCCACATTCTGTGCACTGG 0.552 NA 7 41 0 0 0 0 ZNF250 58500 broad.mit.edu 37 8 146107269 146107269 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:146107269C>G uc003zeq.3 - 6 1431 c.1314G>C c.(1312-1314)CTG>CTC p.L438L COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.L433L|ZNF250_uc010mgg.2_Silent_p.L433L NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 438 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) GGTGCTGGATCAGGTGTGAGT 0.567 NA 11 62 0 0 0 0 APBA1 320 broad.mit.edu 37 9 72131553 72131553 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:72131553C>T uc004ahh.2 - 2 850 c.574G>A c.(574-576)GGC>AGC p.G192S NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 192 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TCCTGGAGGCCGCCGTAGTCG 0.687 NA 5 26 0 0 0 0 SYK 6850 broad.mit.edu 37 9 93650902 93650902 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:93650902A>G uc004aqz.2 + 13 2033 c.1828A>G c.(1828-1830)ACA>GCA p.T610A SYK_uc004ara.2_Missense_Mutation_p.T587A|SYK_uc004arb.2_Missense_Mutation_p.T587A|SYK_uc004arc.2_Missense_Mutation_p.T610A|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 610 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TCTGTGCTGGACATACGAGTG 0.463 NA T ETV6|ITK MDS|peripheral T-cell lymphoma 7 18 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118997917 118997917 + Splice_Site SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:118997917G>T uc004bjn.2 + 7 3113 c.2732_splice c.e7+1 p.M911_splice PAPPA_uc011lxp.1_Splice_Site_p.M606_splice|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TCGTAGACATGTAAGTGCATT 0.507 NA 42 103 5.24e-18 2.1e-17 1 0 BAT2L1 84726 broad.mit.edu 37 9 134343088 134343088 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:134343088A>G uc004can.3 + 12 1914 c.1859A>G c.(1858-1860)TAT>TGT p.Y620C BAT2L1_uc010mzj.1_Missense_Mutation_p.Y203C NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 620 Gln-rich. protein binding 0 GAGTTCAAGTATCAGAAGTCC 0.557 NA 20 45 0 0 0 0 ASMT 438 broad.mit.edu 37 X 1752052 1752052 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:1752052G>C uc004cqd.2 + 8 801 c.656G>C c.(655-657)GGA>GCA p.G219A ASMT_uc010ncy.2_Missense_Mutation_p.G219A|ASMT_uc004cqe.2_Intron NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 191 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGGGGCTGGAGCTCTGGCT 0.537 NA 39 172 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811511 5811511 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:5811511A>G uc010ndh.2 - 6 2299 c.1798T>C c.(1798-1800)TTG>CTG p.L600L NLGN4X_uc004crp.2_Silent_p.L620L|NLGN4X_uc004crq.2_Silent_p.L600L|NLGN4X_uc010ndi.2_Silent_p.L637L|NLGN4X_uc004crr.2_Silent_p.L600L|NLGN4X_uc010ndj.2_Silent_p.L600L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 600 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 ATCTCGTTCAAGTTGTGCAAA 0.483 NA 49 38 0 0 0 0 FAM47B 170062 broad.mit.edu 37 X 34961338 34961338 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:34961338C>T uc004ddi.1 + 1 408 c.390C>T c.(388-390)CCC>CCT p.P130P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 130 ovary(3)|breast(1) 4 CCAAGCATCCCTTGGCCATGT 0.557 NA 40 22 0 0 0 0 COL4A5 1287 broad.mit.edu 37 X 107924156 107924156 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:107924156G>T uc004enz.1 + 45 4259 c.4057G>T c.(4057-4059)GAG>TAG p.E1353* COL4A5_uc011mso.1_Nonsense_Mutation_p.E1350*|COL4A5_uc011msp.1_Nonsense_Mutation_p.E29* NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1347 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 AGCTGGCCCTGAGGGGGAACC 0.448 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 51 25 1.86e-20 7.51e-20 1 0 CT47B1 643311 broad.mit.edu 37 X 120008849 120008850 + Nonsense_Mutation DNP TC TC AG TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:120008849_120008850TC>AG uc011muc.1 - 1 930_931 c.675_676GA>CT c.(673-678)GAGAAA>GACTAA p.225_226EK>D* NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 225_226 0 tctgGGGGTTTCTCATCTGCGG 0.559 NA 6 136 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37234297 37234298 + In_Frame_Ins INS - - AACCAG TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:37234297_37234298insAACCAG uc002rpp.1 - 29 4768_4769 c.4672_4673insCTGGTT c.(4672-4674)TTA>TCTGGTTTA p.1557_1558insSG HEATR5B_uc010ezy.1_In_Frame_Ins_p.141_142insSG NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1557_1558 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ACGTTTTTGTAAACCAGATATT 0.431 NA 15 112 --- --- --- --- NA NA NA NA NRCAM 4897 broad.mit.edu 37 7 107820812 107820813 + Frame_Shift_Ins INS - - T rs139634064 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:107820812_107820813insT uc003vfb.2 - 25 3176_3177 c.2705_2706insA c.(2704-2706)AAGfs p.K902fs NRCAM_uc003vfc.2_Frame_Shift_Ins_p.K886fs|NRCAM_uc011kmk.1_Frame_Shift_Ins_p.K897fs|NRCAM_uc003vfd.2_Frame_Shift_Ins_p.K878fs|NRCAM_uc003vfe.2_Frame_Shift_Ins_p.K878fs NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 902 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGGTGAGGATCTTTTTCTCAAT 0.47 NA 17 124 --- --- --- --- NA NA NA NA LRP12 29967 broad.mit.edu 37 8 105521276 105521276 + Frame_Shift_Del DEL G G - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:105521276delG uc003yma.2 - 3 258 c.163delC c.(163-165)CGAfs p.R55fs LRP12_uc003ymb.2_Frame_Shift_Del_p.R36fs|LRP12_uc003ymc.3_Frame_Shift_Del_p.R36fs NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 55 Extracellular (Potential).|CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGTGCTCGTATTTGCTCT 0.408 NA 16 103 --- --- --- --- NA NA NA NA NKAP 79576 broad.mit.edu 37 X 119077333 119077338 + In_Frame_Del DEL CGCGAC CGCGAC - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:119077333_119077338delCGCGAC uc004esh.2 - 1 398_403 c.231_236delGTCGCG c.(229-237)CGGTCGCGT>CGT p.77_79RSR>R NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 77_79 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 CTCTCTAGAACGCGACCGCGAGCGTG 0.66 NA 13 9 --- --- --- --- NA NA NA NA