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 C1orf159 54991 broad.mit.edu 37 1 1019763 1019763 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr1:1019763C>T uc001act.2 - 11 1066 c.580G>A c.(580-582)GCT>ACT p.A194T C1orf159_uc001acu.2_Missense_Mutation_p.A158T|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Missense_Mutation_p.A136T|C1orf159_uc001acn.2_Missense_Mutation_p.A158T|C1orf159_uc001acp.2_Missense_Mutation_p.A158T NM_017891 NP_060361 Q96HA4 CA159_HUMAN hypothetical protein LOC54991 194 integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) ATCATTGCAGCCTTGAAAAGG 0.622 NA 7 16 0 0 0 0 SLC25A22 79751 broad.mit.edu 37 11 791950 791950 + Missense_Mutation SNP A A G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr11:791950A>G uc001lri.2 - 10 1279 c.937T>C c.(937-939)TCC>CCC p.S313P CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.S313P|SLC25A22_uc001lrj.2_Missense_Mutation_p.S313P NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 313 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) CCCAGCAGGGACTCCGCGATG 0.716 NA 12 15 0 0 0 0 KCNJ1 3758 broad.mit.edu 37 11 128710112 128710112 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr11:128710112G>A uc001qeo.1 - 2 135 c.84C>T c.(82-84)GTC>GTT p.V28V KCNJ1_uc001qep.1_Silent_p.V9V|KCNJ1_uc001qeq.1_Silent_p.V9V|KCNJ1_uc001qer.1_Silent_p.V9V|KCNJ1_uc001qes.1_Silent_p.V9V NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 28 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) AGCGAGTGACGACCCATTTCC 0.408 NA 36 122 0 0 0 0 ITGA7 3679 broad.mit.edu 37 12 56079057 56079057 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:56079057G>A uc001shh.2 - 25 3431 c.3211C>T c.(3211-3213)CGG>TGG p.R1071W ITGA7_uc001shg.2_Missense_Mutation_p.R1067W|ITGA7_uc010sps.1_Missense_Mutation_p.R974W|ITGA7_uc001shf.2_Silent_p.N82N|ITGA7_uc009znw.2_Missense_Mutation_p.R314W|ITGA7_uc009znx.2_Missense_Mutation_p.R948W NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1111 GFFKR motif.|Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 TGCTTCGCCCGTTTGAAGAAT 0.607 NA 17 26 0 0 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57871047 57871047 + Silent SNP A A T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:57871047A>T uc001sod.2 - 8 1168 c.975T>A c.(973-975)CCT>CCA p.P325P ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Silent_p.P70P|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Silent_p.P254P|ARHGAP9_uc001soc.2_Silent_p.P254P|ARHGAP9_uc001soe.1_Silent_p.P333P|ARHGAP9_uc010sro.1_Silent_p.P254P NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 254 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CCATGGAGCCAGGGTTCTGGG 0.527 NA 14 36 0 0 0 0 GPR109B 8843 broad.mit.edu 37 12 123200127 123200127 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:123200127G>A uc001ucy.3 - 1 1313 c.1158C>T c.(1156-1158)ATC>ATT p.I386I GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 386 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GACATTACTCGATGCAACAGC 0.488 NA 37 73 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32783208 32783208 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:32783208T>C uc001utx.2 + 32 4733 c.4237T>C c.(4237-4239)TCA>CCA p.S1413P FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1413 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGAAGCCACGTCACTGGTCCT 0.542 NA 29 23 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58206802 58206802 + Missense_Mutation SNP A A C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:58206802A>C uc001vhq.1 + 1 1014 c.122A>C c.(121-123)GAT>GCT p.D41A PCDH17_uc010aec.1_Missense_Mutation_p.D41A NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 41 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCGGCAGGGATGCTCGACTG 0.662 NA 3 25 0 0 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216210 20216210 + Silent SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr14:20216210T>C uc010tkt.1 + 1 624 c.624T>C c.(622-624)TCT>TCC p.S208S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTCTGCTGTCTCTTGTCTGCT 0.493 NA 18 39 0 0 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50255970 50255970 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr14:50255970C>T uc001wxc.2 - 28 2857 c.2789G>A c.(2788-2790)AGA>AAA p.R930K SDCCAG1_uc010anj.1_Missense_Mutation_p.R930K|SDCCAG1_uc001wwz.2_Missense_Mutation_p.R130K|SDCCAG1_uc001wxa.2_Missense_Mutation_p.R210K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.R909K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.R888K NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 930 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) CTGTCCACCTCTAGGTTTCTG 0.413 NA 46 101 0 0 0 0 PPP4C 5531 broad.mit.edu 37 16 30096327 30096327 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr16:30096327C>T uc002dwe.2 + 9 1012 c.868C>T c.(868-870)CCC>TCC p.P290S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.P290S|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.P211S NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 290 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 TGAGGCTGCTCCCCAAGAGAC 0.632 NA 41 67 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr17:7578394T>G uc002gim.2 - 5 730 c.536A>C c.(535-537)CAT>CCT p.H179P TP53_uc002gig.1_Missense_Mutation_p.H179P|TP53_uc002gih.2_Missense_Mutation_p.H179P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47P|TP53_uc010cng.1_Missense_Mutation_p.H47P|TP53_uc002gii.1_Missense_Mutation_p.H47P|TP53_uc010cnh.1_Missense_Mutation_p.H179P|TP53_uc010cni.1_Missense_Mutation_p.H179P|TP53_uc002gij.2_Missense_Mutation_p.H179P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86P|TP53_uc002gio.2_Missense_Mutation_p.H47P|TP53_uc010vug.1_Missense_Mutation_p.H140P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642 111 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) 17 37 0 0 0 0 SLC47A1 55244 broad.mit.edu 37 17 19459314 19459314 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr17:19459314T>C uc002gvy.1 + 10 946 c.860T>C c.(859-861)CTC>CCC p.L287P SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.L287P|SLC47A1_uc010vyz.1_Missense_Mutation_p.L264P|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.L92P|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_Missense_Mutation_p.L21P|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 287 Extracellular (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCAGGCATCCTCGGCATGGTG 0.592 NA 21 31 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085093 9085093 + Nonsense_Mutation SNP G G T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr19:9085093G>T uc002mkp.2 - 1 6926 c.6722C>A c.(6721-6723)TCA>TAA p.S2241* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2241 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCCCCATCTGAAGGTGTGTC 0.468 NA 13 24 0.000151284 0.000164223 1 0 SLC8A1 6546 broad.mit.edu 37 2 40655955 40655955 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:40655955T>C uc002rrx.2 - 1 1490 c.1466A>G c.(1465-1467)GAA>GGA p.E489G SLC8A1_uc002rry.2_Missense_Mutation_p.E489G|SLC8A1_uc002rrz.2_Missense_Mutation_p.E489G|SLC8A1_uc002rsa.2_Missense_Mutation_p.E489G|SLC8A1_uc002rsd.3_Missense_Mutation_p.E489G|SLC8A1_uc002rsb.1_Missense_Mutation_p.E489G|SLC8A1_uc010fan.1_Missense_Mutation_p.E489G|SLC8A1_uc002rsc.1_Missense_Mutation_p.E489G NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 489 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGGAAATTTTCATCCTCCTC 0.408 NA 24 43 0 0 0 0 ERCC3 2071 broad.mit.edu 37 2 128046236 128046236 + Missense_Mutation SNP C C T rs138897577 TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:128046236C>T uc002toh.1 - 7 1122 c.1027G>A c.(1027-1029)GGT>AGT p.G343S ERCC3_uc002toe.1_Missense_Mutation_p.G98S|ERCC3_uc002tof.1_Missense_Mutation_p.G279S|ERCC3_uc002tog.1_Missense_Mutation_p.G279S|ERCC3_uc010flx.1_Missense_Mutation_p.G98S NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 343 Helicase ATP-binding.|ATP (By similarity). cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TACCACTTACCGCAGGGAAGA 0.532 NA Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 138 291 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141806669 141806669 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:141806669G>A uc002tvj.1 - 11 2647 c.1675C>T c.(1675-1677)CGT>TGT p.R559C LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 559 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTAAAGCACGAGGGTTTACC 0.433 NA TSP Lung(27;0.18) 42 111 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166245201 166245201 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:166245201C>T uc002udc.2 + 27 5175 c.4885C>T c.(4885-4887)CGT>TGT p.R1629C SCN2A_uc002udd.2_Missense_Mutation_p.R1629C|SCN2A_uc002ude.2_Missense_Mutation_p.R1629C NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1629 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCGAGTGATCCGTCTTGCCAG 0.433 NA 19 59 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179596537 179596537 + Missense_Mutation SNP C C A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:179596537C>A uc010zfg.1 - 55 13557 c.13333G>T c.(13333-13335)GAT>TAT p.D4445Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1106Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5372 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCAGATGATCCTGAATGAAA 0.502 NA 38 97 6.34e-27 7.16e-27 1 0 IGFBP5 3488 broad.mit.edu 37 2 217543684 217543684 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:217543684C>T uc002vgj.3 - 2 1230 c.456G>A c.(454-456)GTG>GTA p.V152V NM_000599 NP_000590 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 152 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding 0 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCCTTCTTCACTGCTTCAG 0.597 NA 29 37 0 0 0 0 TWF2 11344 broad.mit.edu 37 3 52269072 52269072 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:52269072G>A uc003ddd.2 - 2 227 c.76C>T c.(76-78)CGG>TGG p.R26W TWF2_uc010hmc.2_Missense_Mutation_p.R26W NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 26 ADF-H 1. cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTGATGAGCCGCACAGAGCCA 0.582 NA 24 19 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179080166 179080166 + Missense_Mutation SNP T T A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:179080166T>A uc003fjs.2 + 5 558 c.432T>A c.(430-432)CAT>CAA p.H144Q MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.H172Q|MFN1_uc010hxc.2_5'UTR NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 144 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AACTGGCCCATGCCCTTCACA 0.368 NA 47 34 0 0 0 0 TFRC 7037 broad.mit.edu 37 3 195789750 195789750 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:195789750G>A uc003fvz.3 - 12 1662 c.1379C>T c.(1378-1380)TCG>TTG p.S460L TFRC_uc003fwa.3_Missense_Mutation_p.S460L|TFRC_uc010hzy.2_Missense_Mutation_p.S379L|TFRC_uc011btr.1_Missense_Mutation_p.S178L NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 460 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) GGCACCAACCGATCCAAAGTC 0.448 NA T BCL6 NHL 26 53 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20544192 20544192 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr4:20544192G>A uc003gpr.1 + 21 2423 c.2219G>A c.(2218-2220)TGT>TAT p.C740Y SLIT2_uc003gps.1_Missense_Mutation_p.C732Y NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 740 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GTCGTCCGATGTAGCAACAAG 0.418 NA 91 158 0 0 0 0 ASB5 140458 broad.mit.edu 37 4 177136850 177136850 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr4:177136850G>A uc003iuq.1 - 7 907 c.891C>T c.(889-891)TGC>TGT p.C297C ASB5_uc003iup.1_Silent_p.C244C NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 297 SOCS box. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TACAGAGTCGGCAAAGTTGGT 0.358 NA 3 30 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113829157 113829157 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:113829157G>A uc003kqo.2 + 7 1897 c.1440G>A c.(1438-1440)GTG>GTA p.V480V KCNN2_uc003kqp.2_Silent_p.V132V|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 480 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACACTTTGGTGGACTTGGCAA 0.408 NA 8 19 0 0 0 0 CEP120 153241 broad.mit.edu 37 5 122725742 122725742 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:122725742C>T uc003ktk.2 - 9 1213 c.1131G>A c.(1129-1131)GGG>GGA p.G377G CEP120_uc011cwq.1_Silent_p.G186G|CEP120_uc010jcz.1_Silent_p.G351G NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 377 centrosome ovary(1) 1 GTGATTTTGGCCCAGTAAGTG 0.393 NA 3 41 0 0 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189040 140189040 + Silent SNP G G A rs146943849 byFrequency TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:140189040G>A uc003lhi.2 + 1 2369 c.2268G>A c.(2266-2268)CCG>CCA p.P756P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P756P|PCDHA4_uc011daa.1_Silent_p.P756P NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 756 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGAGGCCGAGGGTGTGCT 0.652 NA 4 56 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255408 140255408 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:140255408C>T uc003lic.2 + 1 478 c.351C>T c.(349-351)TTC>TTT p.F117F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.F117F NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 117 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGACG 0.562 NA 6 133 0 0 0 0 EPHB4 2050 broad.mit.edu 37 7 100420084 100420084 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr7:100420084C>T uc003uwn.1 - 4 1108 c.617G>A c.(616-618)CGA>CAA p.R206Q EPHB4_uc003uwm.1_Missense_Mutation_p.R113Q|EPHB4_uc010lhj.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkf.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkg.1_Missense_Mutation_p.R206Q|EPHB4_uc011kkh.1_Missense_Mutation_p.R206Q NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 206 Extracellular (Potential).|Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCCGGGAATCGAGTCAGGTT 0.652 NA 5 14 0 0 0 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 11 29 0 0 0 0 CNBD1 168975 broad.mit.edu 37 8 87917339 87917339 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr8:87917339C>T uc003ydy.2 + 3 237 c.189C>T c.(187-189)CAC>CAT p.H63H NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 63 ovary(3) 3 TATCAGCTCACGATACATTTA 0.343 NA 6 20 0 0 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236705 30236705 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:30236705G>A uc004dbz.2 + 2 111 c.8G>A c.(7-9)CGT>CAT p.R3H NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 3 protein binding ovary(1) 1 ATCATGCCTCGTGGTCAGAAG 0.527 NA 28 5 0 0 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985590 140985590 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:140985590T>C uc011mwp.1 + 8 1904 c.1904T>C c.(1903-1905)GTC>GCC p.V635A MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 635 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGCCCCAGTGTCATGTCCACC 0.517 NA 24 43 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994879 140994879 + Nonsense_Mutation SNP C C G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:140994879C>G uc004fbt.2 + 4 1975 c.1689C>G c.(1687-1689)TAC>TAG p.Y563* MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 563 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCACTACTTTCCTCAGA 0.572 NA HNSCC(15;0.026) 12 457 0 0 0 0 G6PD 2539 broad.mit.edu 37 X 153763390 153763390 + Missense_Mutation SNP T T G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:153763390T>G uc004fly.1 - 5 591 c.478A>C c.(478-480)AGC>CGC p.S160R G6PD_uc004flx.1_Missense_Mutation_p.S190R NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 160 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TACATCTGGCTCATGCAGGAC 0.652 NA 43 40 0 0 0 0 RBP3 5949 broad.mit.edu 37 10 48383918 48383918 + Frame_Shift_Del DEL G G - TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr10:48383918delG uc001jez.2 - 3 3428 c.3314delC c.(3313-3315)CCAfs p.P1105fs NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 1105 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CAGCAGAACTGGAGGGCCTTC 0.537 NA 25 48 --- --- --- --- NA NA NA NA KRT5 3852 broad.mit.edu 37 12 52911705 52911706 + Frame_Shift_Ins INS - - T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:52911705_52911706insT uc001san.2 - 4 1065_1066 c.902_903insA c.(901-903)AACfs p.N301fs KRT5_uc009zmh.2_Frame_Shift_Ins_p.N301fs NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 301 Rod.|Coil 1B. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTCATGAAGTTAATCTCATC 0.421 NA 39 78 --- --- --- --- NA NA NA NA PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:25671273delG uc001upy.2 + 1 998 c.937delG c.(937-939)GCGfs p.A313fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 NA 7 184 --- --- --- --- NA NA NA NA