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 AADACL4 343066 broad.mit.edu 37 1 12726621 12726621 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:12726621G>A uc001auf.2 + 4 1099 c.1099G>A c.(1099-1101)GTG>ATG p.V367M NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 367 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGGGGTCCGCGTGACATGGTA 0.493 CNKSR1 10256 broad.mit.edu 37 1 26507045 26507045 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:26507045C>T uc001bln.3 + 2 212 c.154C>T c.(154-156)CGG>TGG p.R52W CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 52 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCTGGCTGTGCGGTCTCTGGG 0.622 CYP4B1 1580 broad.mit.edu 37 1 47264924 47264924 + Silent SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:47264924T>C uc001cqm.3 + 1 255 c.171T>C c.(169-171)CAT>CAC p.H57H CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Silent_p.H57H|CYP4B1_uc009vym.2_Silent_p.H57H|CYP4B1_uc010omk.1_5'UTR NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 57 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TTTTTGGACATGCCCTCGAGG 0.572 C1orf175 374977 broad.mit.edu 37 1 55166995 55166995 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:55166995C>T uc010ooe.1 + 19 3609 c.3285C>T c.(3283-3285)GAC>GAT p.D1095D C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.D613D|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.D297D NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 1095 HEAT 3. integral to membrane binding 0 ACTTCAGCGACGTGAGGACCT 0.592 EVI5 7813 broad.mit.edu 37 1 93159365 93159366 + Frame_Shift_Ins INS - T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:93159365_93159366insT uc001dox.2 - 9 1232_1233 c.1222_1223insA c.(1222-1224)ATGfs p.M408fs EVI5_uc010otf.1_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 408 Dimerization.|Targeting to the centrosomes.|Potential.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TTACTTTTTCATTTTTTTTGAA 0.317 CD101 9398 broad.mit.edu 37 1 117552685 117552685 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:117552685C>T uc010oxb.1 + 2 315 c.257C>T c.(256-258)ACG>ATG p.T86M CD101_uc009whd.2_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 86 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCAGTATATACGCAGCGGGTG 0.532 ACP6 51205 broad.mit.edu 37 1 147119358 147119358 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:147119358G>A uc001epr.2 - 10 1618 c.1154C>T c.(1153-1155)CCG>CTG p.P385L NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 385 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) GCAACCTCTCGGCACCTGCTC 0.522 AQP10 89872 broad.mit.edu 37 1 154295505 154295505 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:154295505C>T uc001feu.2 + 3 320 c.280C>T c.(280-282)CGC>TGC p.R94C AQP10_uc001fev.2_Missense_Mutation_p.R94C|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 94 Cytoplasmic (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CATCGTTGGACGCCTCCCCTG 0.468 KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT - - TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:154680586_154680588delGCT uc001ffp.2 - 8 2374_2376 c.2060_2062delAGC c.(2059-2064)CAGCTC>CTC p.Q687del KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 692 Poly-Gln. integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 CAMK1G 57172 broad.mit.edu 37 1 209773439 209773439 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:209773439G>A uc001hhd.2 + 3 306 c.204G>A c.(202-204)GAG>GAA p.E68E CAMK1G_uc001hhf.3_Silent_p.E68E|CAMK1G_uc001hhe.2_Silent_p.E68E NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 68 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TGGAGAATGAGATTGCTGTGT 0.453 GJC2 57165 broad.mit.edu 37 1 228345795 228345795 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:228345795C>T uc001hsk.2 + 2 511 c.336C>T c.(334-336)CGC>CGT p.R112R NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 112 Cytoplasmic (Potential). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) Agcggcgccgcgccctccgcc 0.537 OR2L8 391190 broad.mit.edu 37 1 248112821 248112821 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr1:248112821T>C uc001idt.1 + 1 662 c.662T>C c.(661-663)CTC>CCC p.L221P OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGCCAGGTTCTCTTTGCTGTC 0.463 CUBN 8029 broad.mit.edu 37 10 17083094 17083094 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr10:17083094T>C uc001ioo.2 - 27 4007 c.3955A>G c.(3955-3957)AAC>GAC p.N1319D NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1319 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATGTGTAGTTCACAGTGTTG 0.383 A1CF 29974 broad.mit.edu 37 10 52587910 52587910 + Missense_Mutation SNP T A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr10:52587910T>A uc001jjj.2 - 7 938 c.750A>T c.(748-750)GAA>GAT p.E250D A1CF_uc010qhn.1_Missense_Mutation_p.E258D|A1CF_uc001jji.2_Missense_Mutation_p.E250D|A1CF_uc001jjh.2_Missense_Mutation_p.E258D|A1CF_uc010qho.1_Missense_Mutation_p.E258D|A1CF_uc009xov.2_Missense_Mutation_p.E250D NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 250 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TATTGTTGAATTCCTTTTCAA 0.234 PTEN 5728 broad.mit.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C T T rs121909224 TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr10:89692904C>T uc001kfb.2 + 6 1419 c.388C>T c.(388-390)CGA>TGA p.R130* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3). R->M: Does not affect the ability to inhibit AKT/PKB activation. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R130P(4)|p.R55fs*1(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.R130R(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.G129fs*51(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGGAAAGGGACGAACTGGTGT 0.403 R130G(OV56_OVARY)|R130G(KMBC2_URINARY_TRACT) 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) OR51G1 79324 broad.mit.edu 37 11 4945014 4945014 + Missense_Mutation SNP T A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:4945014T>A uc010qyr.1 - 1 556 c.556A>T c.(556-558)ATC>TTC p.I186F NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCTTCATGATCTCCAGGTGA 0.522 FADS3 3995 broad.mit.edu 37 11 61646097 61646097 + Missense_Mutation SNP C G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:61646097C>G uc001nsm.2 - 5 787 c.634G>C c.(634-636)GCC>CCC p.A212P FADS3_uc001nsn.2_Missense_Mutation_p.A88P NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 212 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 CACCAGTGGGCGGAGAAGCCC 0.667 DNAJC4 3338 broad.mit.edu 37 11 64001432 64001432 + Silent SNP C T T rs138996784 by1000genomes TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:64001432C>T uc001nys.2 + 6 1056 c.594C>T c.(592-594)AAC>AAT p.N198N uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.N199N|DNAJC4_uc001nyu.2_Silent_p.N198N|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank NM_005528 NP_005519 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 198 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding 0 CCTTCTACAACGAAGCCCGGG 0.547 FAT3 120114 broad.mit.edu 37 11 92533806 92533806 + Nonsense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:92533806C>T uc001pdj.3 + 9 7644 c.7627C>T c.(7627-7629)CGA>TGA p.R2543* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2543 Cadherin 23.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCCAAGGATCGATTCCTCAT 0.488 TCGA Ovarian(4;0.039) CNTN5 53942 broad.mit.edu 37 11 99690432 99690432 + Silent SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:99690432G>T uc001pga.2 + 4 552 c.213G>T c.(211-213)GGG>GGT p.G71G CNTN5_uc009ywv.1_Silent_p.G71G|CNTN5_uc001pfz.2_Silent_p.G71G|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 71 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCTGGCTAGGGGCAGCTCAGA 0.378 CLDN25 644672 broad.mit.edu 37 11 113650596 113650596 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr11:113650596A>G uc009yyw.1 + 1 79 c.79A>G c.(79-81)ACC>GCC p.T27A NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 27 Helical; (Potential). integral to membrane|tight junction structural molecule activity 0 CTCCTGTGTTACCACCATCCT 0.557 ACSM4 341392 broad.mit.edu 37 12 7476137 7476137 + Missense_Mutation SNP G C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr12:7476137G>C uc001qsx.1 + 9 1289 c.1289G>C c.(1288-1290)TGT>TCT p.C430S NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 430 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CGGCCCTTCTGTTTCTTCTCT 0.229 CD163 9332 broad.mit.edu 37 12 7636017 7636017 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr12:7636017G>A uc001qsz.3 - 12 3162 c.3034C>T c.(3034-3036)CGC>TGC p.R1012C CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1012 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TGGCCCCAGCGTCTGGCAGGA 0.512 KIAA1467 57613 broad.mit.edu 37 12 13208635 13208635 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr12:13208635A>G uc001rbi.2 + 2 211 c.188A>G c.(187-189)GAT>GGT p.D63G KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 63 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CCCGACTCAGATGCTGAGGTT 0.562 PTPRB 5787 broad.mit.edu 37 12 70949924 70949924 + Silent SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr12:70949924A>G uc001swb.3 - 17 4095 c.4065T>C c.(4063-4065)CCT>CCC p.P1355P PTPRB_uc010sto.1_Silent_p.P1265P|PTPRB_uc010stp.1_Silent_p.P1265P|PTPRB_uc001swc.3_Silent_p.P1573P|PTPRB_uc001swa.3_Silent_p.P1485P NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1355 Fibronectin type-III 16.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTATCTTGTCAGGCTCTAAAG 0.438 FSCB 84075 broad.mit.edu 37 14 44974610 44974610 + Silent SNP A T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr14:44974610A>T uc001wvn.2 - 1 1890 c.1581T>A c.(1579-1581)CTT>CTA p.L527L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 527 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TAGCTGCTAGAAGCTGAATTT 0.493 SYT16 83851 broad.mit.edu 37 14 62536340 62536340 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr14:62536340C>T uc001xfu.1 + 2 740 c.543C>T c.(541-543)GAC>GAT p.D181D SYT16_uc010tsd.1_Silent_p.D181D NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 181 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TTGGGGATGACGAAGAGCTGT 0.483 SERPINA5 5104 broad.mit.edu 37 14 95054156 95054156 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr14:95054156T>C uc001ydm.2 + 3 667 c.457T>C c.(457-459)TAC>CAC p.Y153H SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 153 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GAAGACGCTGTACCTGGCAGA 0.537 WDR72 256764 broad.mit.edu 37 15 53994476 53994476 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr15:53994476G>A uc002acj.2 - 12 1466 c.1424C>T c.(1423-1425)TCG>TTG p.S475L WDR72_uc010bfi.1_Missense_Mutation_p.S475L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 475 WD 6. lung(1)|skin(1) 2 all cancers(107;0.0511) GTCTAATTTCGAAGAGAGACC 0.383 HERC1 8925 broad.mit.edu 37 15 63948072 63948072 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr15:63948072C>T uc002amp.2 - 50 10101 c.9953G>A c.(9952-9954)CGA>CAA p.R3318Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3318 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 AGCAATTCCTCGGAGAAAGCT 0.448 LOC645752 645752 broad.mit.edu 37 15 78211165 78211165 + Missense_Mutation SNP A G G rs113224490 TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr15:78211165A>G uc010bky.2 - 11 1366 c.602T>C c.(601-603)TTC>TCC p.F201S NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 GTGGTTCTGGAAGAGCACGAG 0.582 GOLGA6L10 647042 broad.mit.edu 37 15 83015554 83015554 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr15:83015554A>G uc010uny.1 - 3 322 c.224T>C c.(223-225)CTG>CCG p.L75P GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank NM_198181 NP_937824 A6NI86 GG6LA_HUMAN golgi autoantigen, golgin subfamily a, 6D-like 87 0 TCTTACCTCCAGATCCTGCAG 0.622 ACSM2B 348158 broad.mit.edu 37 16 20548638 20548638 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr16:20548638T>C uc002dhj.3 - 15 1886 c.1676A>G c.(1675-1677)CAA>CGA p.Q559R ACSM2B_uc002dhk.3_Missense_Mutation_p.Q559R NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 559 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TTTGGTTCGTTGAATTTTCCC 0.483 IL21R 50615 broad.mit.edu 37 16 27441407 27441407 + Nonsense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr16:27441407G>A uc002doq.1 + 2 248 c.15G>A c.(13-15)TGG>TGA p.W5* IL21R_uc002dor.1_Nonsense_Mutation_p.W5*|IL21R_uc002dos.1_Nonsense_Mutation_p.W5* NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 5 natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CGCGTGGCTGGGCCGCCCCCT 0.716 T BCL6 NHL RILP 83547 broad.mit.edu 37 17 1551765 1551765 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:1551765G>T uc002ftd.2 - 5 994 c.700C>A c.(700-702)CGC>AGC p.R234S SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 234 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCCGAGGGGCGCCCGAGCTGC 0.637 TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:7577097C>G uc002gim.2 - 8 1035 c.841G>C c.(841-843)GAC>CAC p.D281H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 281 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (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.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(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) GTGCGCCGGTCTCTCCCAGGA 0.547 111 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) KDM6B 23135 broad.mit.edu 37 17 7752755 7752755 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:7752755C>T uc002giw.1 + 11 3525 c.3149C>T c.(3148-3150)CCA>CTA p.P1050L KDM6B_uc002gix.2_Missense_Mutation_p.P352L NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1050 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 CCCACAGCTCCAGCCCCTCCA 0.677 GRB7 2886 broad.mit.edu 37 17 37902194 37902194 + Missense_Mutation SNP C A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:37902194C>A uc002hsr.2 + 13 1549 c.1299C>A c.(1297-1299)CAC>CAA p.H433Q GRB7_uc002hss.2_Missense_Mutation_p.H433Q|GRB7_uc010cwc.2_Missense_Mutation_p.H433Q|GRB7_uc002hst.2_Intron NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 433 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCTGGTTCCACGGGCGCATTT 0.617 GSDMA 284110 broad.mit.edu 37 17 38133285 38133285 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:38133285C>T uc002htl.1 + 12 1430 c.1312C>T c.(1312-1314)CTT>TTT p.L438F GSDMA_uc002htm.1_Missense_Mutation_p.L438F NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 438 apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 CCTCTCTCTCCTTCAGCAGCT 0.557 KRTAP4-9 100132386 broad.mit.edu 37 17 39262218 39262218 + Missense_Mutation SNP C A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:39262218C>A uc010wfp.1 + 1 578 c.578C>A c.(577-579)ACC>AAC p.T193N NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 193 keratin filament 0 TATCGCCCAACCTGTGTCATC 0.483 MPO 4353 broad.mit.edu 37 17 56355275 56355275 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:56355275C>T uc002ivu.1 - 7 1294 c.1117G>A c.(1117-1119)GGC>AGC p.G373S NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 373 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) AGGGCCCGGCCGTTGTCTTGG 0.652 DNAH17 8632 broad.mit.edu 37 17 76420030 76420030 + Missense_Mutation SNP G A A rs143246806 byFrequency TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr17:76420030G>A uc010dhp.1 - 26 4568 c.4346C>T c.(4345-4347)GCG>GTG p.A1449V PGS1_uc002jvm.2_Intron|PGS1_uc010wtt.1_Intron|PGS1_uc010dho.2_Intron|PGS1_uc002jvn.2_Intron|PGS1_uc002jvo.2_Intron|DNAH17_uc002jvq.2_Missense_Mutation_p.A734V|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCCACTTCGCTGCCTTCTC 0.279 TCF4 6925 broad.mit.edu 37 18 52921829 52921829 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr18:52921829C>T uc002lfz.2 - 15 1861 c.1249G>A c.(1249-1251)GAC>AAC p.D417N TCF4_uc002lfw.3_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N|TCF4_uc002lga.2_Missense_Mutation_p.D519N|TCF4_uc002lgb.1_Missense_Mutation_p.D257N|TCF4_uc010dpi.2_Missense_Mutation_p.D423N|TCF4_uc002lfv.2_Missense_Mutation_p.D200N NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 417 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CCATGCATGTCCCCATGACCA 0.502 SOCS6 9306 broad.mit.edu 37 18 67992070 67992070 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr18:67992070A>G uc002lkr.1 + 2 482 c.166A>G c.(166-168)ATC>GTC p.I56V SOCS6_uc010dqq.2_Missense_Mutation_p.I56V NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 56 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CAGCTGCGATATCAACGGTGA 0.428 HMHA1 23526 broad.mit.edu 37 19 1083208 1083208 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr19:1083208G>A uc002lqz.1 + 21 3042 c.2811G>A c.(2809-2811)ACG>ACA p.T937T HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T|HMHA1_uc002lrd.1_Silent_p.T13T|HMHA1_uc010dsd.1_Silent_p.T43T NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 937 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGGCCCACGCTGCTTCGGC 0.672 FARSA 2193 broad.mit.edu 37 19 13035595 13035595 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr19:13035595G>A uc002mvs.2 - 10 1101 c.1053C>T c.(1051-1053)TTC>TTT p.F351F FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Silent_p.F320F|FARSA_uc010dyy.1_Silent_p.F272F NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 351 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) GGTCGATGGAGAAGTACTTGA 0.612 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 TTC15 51112 broad.mit.edu 37 2 3482694 3482694 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:3482694G>T uc002qxm.1 + 11 2161 c.1955G>T c.(1954-1956)AGA>ATA p.R652I TTC15_uc002qxn.1_Missense_Mutation_p.R652I|TTC15_uc010ewm.1_Missense_Mutation_p.R658I NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 652 TPR 3. binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) ATGGATCCAAGAAACGCAGTG 0.532 RNF144A 9781 broad.mit.edu 37 2 7154885 7154885 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:7154885A>G uc002qys.2 + 5 725 c.283A>G c.(283-285)AAG>GAG p.K95E RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 95 IBR-type. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) AAGATATAAAAAGCTACAATT 0.368 THADA 63892 broad.mit.edu 37 2 43802136 43802136 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:43802136C>T uc002rsw.3 - 11 1420 c.1068G>A c.(1066-1068)CTG>CTA p.L356L THADA_uc002rsx.3_Silent_p.L356L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.3_Silent_p.L356L|THADA_uc002rtd.2_Silent_p.L356L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 356 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGATTCTAGACAGAAACATTT 0.373 TTC30B 150737 broad.mit.edu 37 2 178416069 178416069 + Missense_Mutation SNP A T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:178416069A>T uc002uln.2 - 1 1456 c.1423T>A c.(1423-1425)TAC>AAC p.Y475N TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 475 TPR 7. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCTTCTTTGTATTTGTTTTCC 0.393 MYO1B 4430 broad.mit.edu 37 2 192265141 192265141 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:192265141A>G uc010fsg.2 + 22 2584 c.2329A>G c.(2329-2331)AAG>GAG p.K777E MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E|MYO1B_uc002usv.2_5'Flank NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 777 IQ 3. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GAAGCATCAAAAGCGCTGTAA 0.473 DNAH7 56171 broad.mit.edu 37 2 196852773 196852773 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:196852773A>G uc002utj.3 - 13 1635 c.1534T>C c.(1534-1536)TTC>CTC p.F512L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 512 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCTGCGAGGAAGTTATCAACA 0.338 CXCR1 3577 broad.mit.edu 37 2 219029097 219029097 + Missense_Mutation SNP G A A rs61755739 TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:219029097G>A uc002vhc.2 - 2 957 c.838C>T c.(838-840)CGC>TGC p.R280C NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 280 Extracellular (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 ATGTTGTTGCGGCGCTCACAG 0.572 TRIP12 9320 broad.mit.edu 37 2 230724206 230724206 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr2:230724206C>T uc002vpw.1 - 3 292 c.183G>A c.(181-183)GGG>GGA p.G61G TRIP12_uc002vpx.1_Silent_p.G103G|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Silent_p.G61G NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 61 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TAGGCACCTGCCCCGTTTTTT 0.453 C20orf54 113278 broad.mit.edu 37 20 744614 744614 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr20:744614C>T uc002wed.3 - 3 940 c.601G>A c.(601-603)GGA>AGA p.G201R C20orf54_uc002wee.2_Missense_Mutation_p.G201R NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 201 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GCTTCCATTCCGGGGAGGGCG 0.587 PCSK2 5126 broad.mit.edu 37 20 17434509 17434509 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr20:17434509C>T uc002wpm.2 + 9 1328 c.1008C>T c.(1006-1008)AAC>AAT p.N336N PCSK2_uc002wpl.2_Silent_p.N317N|PCSK2_uc010zrm.1_Silent_p.N301N NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 336 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGCCATCAACGACGGCAGGA 0.617 PRIC285 85441 broad.mit.edu 37 20 62198633 62198633 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr20:62198633G>A uc002yfm.2 - 7 2970 c.2078C>T c.(2077-2079)GCG>GTG p.A693V PRIC285_uc002yfl.1_Missense_Mutation_p.A124V NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 693 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GTGGTCGCCCGCCAGCACGAG 0.682 SAMSN1 64092 broad.mit.edu 37 21 15858270 15858270 + Missense_Mutation SNP A T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr21:15858270A>T uc002yju.1 - 8 1167 c.1085T>A c.(1084-1086)ATG>AAG p.M362K SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 362 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CTTATGTACCATGTCAGACAG 0.398 RBMS3 27303 broad.mit.edu 37 3 30032579 30032579 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:30032579G>T uc003cel.2 + 14 1416 c.1186G>T c.(1186-1188)GTT>TTT p.V396F RBMS3_uc003cek.2_Missense_Mutation_p.V380F|RBMS3_uc010hfq.2_Missense_Mutation_p.V393F|RBMS3_uc003cem.2_Missense_Mutation_p.V378F|RBMS3_uc010hfr.2_Missense_Mutation_p.V380F NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 396 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) TTAGGGTGTTGTTGCTGATAC 0.493 CLASP2 23122 broad.mit.edu 37 3 33584995 33584995 + Nonsense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:33584995G>A uc003cfu.2 - 31 3688 c.3334C>T c.(3334-3336)CGA>TGA p.R1112* CLASP2_uc003cfs.2_Nonsense_Mutation_p.R319*|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712* NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1121 ovary(3)|central_nervous_system(1) 4 GCTGGTGATCGTGGTGTTGGT 0.373 STAB1 23166 broad.mit.edu 37 3 52550236 52550236 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:52550236G>A uc003dej.2 + 38 4200 c.4126G>A c.(4126-4128)GGG>AGG p.G1376R STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1376 Laminin EGF-like 1.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGGCCGCTACGGGCCCAACTG 0.697 FAM116A 201627 broad.mit.edu 37 3 57646541 57646541 + Silent SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:57646541A>G uc003dja.2 - 7 716 c.645T>C c.(643-645)CCT>CCC p.P215P NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 215 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) GCACTGGGGCAGGCCATCGAT 0.303 C3orf67 200844 broad.mit.edu 37 3 58739528 58739528 + Missense_Mutation SNP C T T rs139574013 TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:58739528C>T uc003dkt.1 - 15 1956 c.1547G>A c.(1546-1548)CGT>CAT p.R516H C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.R457H NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GGAATCTGGACGCTGCTCAGC 0.388 PPP4R2 151987 broad.mit.edu 37 3 73114106 73114106 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:73114106C>T uc003dph.1 + 8 812 c.742C>T c.(742-744)CTC>TTC p.L248F PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 248 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity lung(1) 1 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GGTAAAAAGACTCAGGTTTGA 0.433 ABCC5 10057 broad.mit.edu 37 3 183667646 183667646 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:183667646C>T uc003fmg.2 - 22 3287 c.3122G>A c.(3121-3123)CGT>CAT p.R1041H ABCC5_uc011bqt.1_Missense_Mutation_p.R569H|ABCC5_uc010hxl.2_Intron NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1041 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATTGTCCAGACGCTTCAGCTC 0.562 HTR3E 285242 broad.mit.edu 37 3 183824315 183824315 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr3:183824315G>T uc010hxq.2 + 9 1671 c.1205G>T c.(1204-1206)GGG>GTG p.G402V HTR3E_uc003fml.3_Missense_Mutation_p.G387V|HTR3E_uc003fmm.2_Missense_Mutation_p.G417V|HTR3E_uc010hxr.2_Missense_Mutation_p.G428V|HTR3E_uc003fmn.2_Missense_Mutation_p.G402V NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 402 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GAGCTGACAGGGGGCTCAGAA 0.612 RGS12 6002 broad.mit.edu 37 4 3427237 3427237 + Missense_Mutation SNP T G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr4:3427237T>G uc003ggw.2 + 14 4185 c.3281T>G c.(3280-3282)CTG>CGG p.L1094R RGS12_uc003ggv.2_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.2_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.1_Missense_Mutation_p.L436R|RGS12_uc003gha.2_Missense_Mutation_p.L436R|RGS12_uc010icv.2_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1094 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATATCGAGTCTGGACGGACAG 0.572 CLNK 116449 broad.mit.edu 37 4 10567771 10567771 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr4:10567771T>C uc003gmo.3 - 6 291 c.154A>G c.(154-156)AGA>GGA p.R52G CLNK_uc003gmp.2_Missense_Mutation_p.R10G NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 52 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 GCAAAGTTTCTTTCCTAAGCA 0.458 CORIN 10699 broad.mit.edu 37 4 47625643 47625643 + Missense_Mutation SNP C A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr4:47625643C>A uc003gxm.2 - 19 2578 c.2485G>T c.(2485-2487)GGC>TGC p.G829C CORIN_uc011bzf.1_Missense_Mutation_p.G690C|CORIN_uc011bzg.1_Missense_Mutation_p.G762C NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 829 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.G829G(1) ovary(1)|central_nervous_system(1) 2 AGGACACAGCCACAGATATGT 0.527 PDHA2 5161 broad.mit.edu 37 4 96761557 96761557 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr4:96761557C>T uc003htr.3 + 1 319 c.256C>T c.(256-258)CGC>TGC p.R86C NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 86 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) GAAATTCATTCGCGGTTTCTG 0.517 ENPEP 2028 broad.mit.edu 37 4 111464226 111464226 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr4:111464226G>T uc003iab.3 + 13 2342 c.2000G>T c.(1999-2001)AGA>ATA p.R667I NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 667 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GCCTTGGCAAGGTGCGTTTTA 0.328 BRIX1 55299 broad.mit.edu 37 5 34924991 34924991 + Missense_Mutation SNP C G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr5:34924991C>G uc003jja.2 + 9 727 c.703C>G c.(703-705)CGT>GGT p.R235G NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN BRIX 235 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding 0 AATAGGACCTCGTTTTGTCTT 0.358 CHSY3 337876 broad.mit.edu 37 5 129244015 129244015 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr5:129244015C>T uc003kvd.2 + 2 1048 c.1048C>T c.(1048-1050)CGC>TGC p.R350C NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 350 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AAGATGCGTTCGCCGTTTTGG 0.438 CSNK1A1 1452 broad.mit.edu 37 5 148929730 148929730 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr5:148929730C>T uc003lqx.1 - 2 618 c.138G>A c.(136-138)AAG>AAA p.K46K CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 46 Protein kinase. ATP (By similarity). cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GAGATTCTAGCTTCACTGCCA 0.502 DSP 1832 broad.mit.edu 37 6 7569463 7569463 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:7569463C>T uc003mxp.1 + 12 1743 c.1464C>T c.(1462-1464)AAC>AAT p.N488N DSP_uc003mxq.1_Silent_p.N488N NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 488 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGGACAACAACGAGCGCAGCA 0.527 SRPK1 6732 broad.mit.edu 37 6 35855829 35855829 + Missense_Mutation SNP G C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:35855829G>C uc003olj.2 - 5 485 c.362C>G c.(361-363)GCA>GGA p.A121G SRPK1_uc011dtg.1_Missense_Mutation_p.A105G|SRPK1_uc003olh.2_Missense_Mutation_p.A14G|SRPK1_uc003oli.2_Missense_Mutation_p.A14G NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 121 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TTCATCTAGTGCTGTTTCAGT 0.338 CDKN1A 1026 broad.mit.edu 37 6 36652137 36652137 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:36652137G>A uc003omm.3 + 2 381 c.259G>A c.(259-261)GAT>AAT p.D87N CDKN1A_uc011dtq.1_Missense_Mutation_p.D121N|CDKN1A_uc003oml.2_Missense_Mutation_p.D87N|CDKN1A_uc003omn.2_Missense_Mutation_p.D87N NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 87 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GCGAGGCCGGGATGAGTTGGG 0.657 Multiple_Endocrine_Neoplasia_type_1 PKHD1 5314 broad.mit.edu 37 6 51910848 51910848 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:51910848G>T uc003pah.1 - 24 2822 c.2546C>A c.(2545-2547)ACC>AAC p.T849N PKHD1_uc003pai.2_Missense_Mutation_p.T849N NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 849 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CCAGGACAAGGTCCACACGTG 0.463 HCRTR2 3062 broad.mit.edu 37 6 55113582 55113582 + Silent SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:55113582A>G uc003pcl.2 + 2 684 c.369A>G c.(367-369)GGA>GGG p.G123G HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.G58G NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 123 Extracellular (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGTTTTTTGGACAGTCCCTTT 0.428 SYNE1 23345 broad.mit.edu 37 6 152652051 152652051 + Missense_Mutation SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr6:152652051T>C uc010kiw.2 - 78 14371 c.13769A>G c.(13768-13770)AAC>AGC p.N4590S SYNE1_uc003qot.3_Missense_Mutation_p.N4519S|SYNE1_uc003qou.3_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.2_Missense_Mutation_p.N345S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4590 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATTCATTAGGTTGATTTCAGG 0.353 HNSCC(10;0.0054) ADCYAP1R1 117 broad.mit.edu 37 7 31126052 31126052 + Missense_Mutation SNP T A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:31126052T>A uc003tca.1 + 10 947 c.724T>A c.(724-726)TTC>ATC p.F242I ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 242 Helical; Name=3; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GTCCAACTACTTCTGGCTGTT 0.542 HECW1 23072 broad.mit.edu 37 7 43485123 43485123 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:43485123G>A uc003tid.1 + 11 2957 c.2352G>A c.(2350-2352)CCG>CCA p.P784P HECW1_uc011kbi.1_Silent_p.P784P NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 784 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.L784I(1) ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AAAGAAGCCCGGAAGGTCTGG 0.612 GNAT3 346562 broad.mit.edu 37 7 80091827 80091827 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:80091827G>A uc011kgu.1 - 6 711 c.711C>T c.(709-711)GAC>GAT p.D237D CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 237 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 CCACTTCTTCGTCTTCCACGA 0.408 SEMA3C 10512 broad.mit.edu 37 7 80378254 80378254 + Missense_Mutation SNP A G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:80378254A>G uc003uhj.2 - 17 2364 c.1802T>C c.(1801-1803)ATC>ACC p.I601T SEMA3C_uc011kgw.1_Missense_Mutation_p.I619T NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 601 Ig-like C2-type. immune response|response to drug membrane receptor activity ovary(1) 1 CAGCCACTTGATAGATGCCTG 0.453 CACNA2D1 781 broad.mit.edu 37 7 81635118 81635118 + Missense_Mutation SNP G C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:81635118G>C uc003uhr.1 - 17 1734 c.1478C>G c.(1477-1479)TCT>TGT p.S493C NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 493 Extracellular (Potential).|Cache. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATCTTCCAAAGACACATCTAC 0.328 KEL 3792 broad.mit.edu 37 7 142658027 142658027 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr7:142658027G>A uc003wcb.2 - 4 598 c.388C>T c.(388-390)CGG>TGG p.R130W NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 130 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) AGTATTCTCCGAAGTCGGTTT 0.502 ARHGEF10 9639 broad.mit.edu 37 8 1871955 1871955 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr8:1871955G>A uc003wpr.2 + 21 2581 c.2403G>A c.(2401-2403)ACG>ACA p.T801T ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.2_Silent_p.T763T|ARHGEF10_uc003wpv.2_Silent_p.T534T|ARHGEF10_uc010lre.2_Silent_p.T481T NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 826 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GGCGACCGACGTTCTTTACAG 0.488 WRN 7486 broad.mit.edu 37 8 30977768 30977768 + Missense_Mutation SNP G C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr8:30977768G>C uc003xio.3 + 21 3246 c.2458G>C c.(2458-2460)GCT>CCT p.A820P WRN_uc010lvk.2_Missense_Mutation_p.A287P NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 820 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GTGTGTCATAGCTACCATAGC 0.353 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome SDC2 6383 broad.mit.edu 37 8 97614730 97614730 + Missense_Mutation SNP C G G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr8:97614730C>G uc003yhv.1 + 3 898 c.280C>G c.(280-282)CAG>GAG p.Q94E SDC2_uc011lgu.1_Missense_Mutation_p.Q65E NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 94 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) GCTGAATATACAGAACAAGAT 0.423 RGS22 26166 broad.mit.edu 37 8 101059740 101059740 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr8:101059740G>A uc003yjb.1 - 11 1969 c.1774C>T c.(1774-1776)CGG>TGG p.R592W RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 592 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAAAGCTCCCGCTTCCAAGGC 0.383 FAM83A 84985 broad.mit.edu 37 8 124206323 124206323 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr8:124206323C>T uc003ypv.2 + 4 2722 c.708C>T c.(706-708)TTC>TTT p.F236F FAM83A_uc003ypw.2_Silent_p.F236F|FAM83A_uc003ypy.2_Silent_p.F180F|FAM83A_uc003ypx.2_Silent_p.F236F|FAM83A_uc003ypz.2_Silent_p.F236F NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 236 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCAGGAAATTCGCTGGCCAAA 0.473 ZNF322B 387328 broad.mit.edu 37 9 99961445 99961445 + Missense_Mutation SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr9:99961445G>A uc004axd.1 - 1 466 c.349C>T c.(349-351)CAT>TAT p.H117Y uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron NM_199005 NP_945356 zinc finger protein 322B 0 Acute lymphoblastic leukemia(62;0.158) GTTCTCTGATGTCCTGAAAGC 0.408 OR13C8 138802 broad.mit.edu 37 9 107332231 107332231 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chr9:107332231G>A uc011lvo.1 + 1 783 c.783G>A c.(781-783)AAG>AAA p.K261K NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTACGCAAAGCCTGAGTCTA 0.453 PIR 8544 broad.mit.edu 37 X 15509315 15509315 + Silent SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:15509315C>T uc004cwu.2 - 2 304 c.66G>A c.(64-66)GCG>GCA p.A22A PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron NM_003662 NP_003653 O00625 PIR_HUMAN pirin 22 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity ovary(1) 1 Hepatocellular(33;0.183) TCCGGACCCTCGCTCCAACCC 0.522 KLHL34 257240 broad.mit.edu 37 X 21675201 21675201 + Missense_Mutation SNP C T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:21675201C>T uc004czz.1 - 1 1248 c.706G>A c.(706-708)GTG>ATG p.V236M NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 236 BACK. ovary(1) 1 CCCGAGTACACGCGCCGCAGT 0.667 FAM47B 170062 broad.mit.edu 37 X 34962438 34962438 + Missense_Mutation SNP A T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:34962438A>T uc004ddi.1 + 1 1508 c.1490A>T c.(1489-1491)AAG>ATG p.K497M NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 497 ovary(3)|breast(1) 4 CAAGACCAAAAGATTAAGAAG 0.468 CXorf27 25763 broad.mit.edu 37 X 37850145 37850145 + Missense_Mutation SNP A T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:37850145A>T uc004ddt.3 + 1 76 c.53A>T c.(52-54)CAA>CTA p.Q18L NM_012274 NP_036406 O75409 HYPM_HUMAN Huntingtin interacting protein M 18 DNA binding central_nervous_system(1) 1 AACCAGACTCAAGACCCTTCT 0.458 BCOR 54880 broad.mit.edu 37 X 39921626 39921626 + Silent SNP T C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:39921626T>C uc004den.3 - 10 4486 c.4194A>G c.(4192-4194)AGA>AGG p.R1398R BCOR_uc004dep.3_Silent_p.R1364R|BCOR_uc004deo.3_Silent_p.R1346R|BCOR_uc010nhb.2_Silent_p.R106R|BCOR_uc004dem.3_Silent_p.R1364R NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1398 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCGGCCGCTTTCTGAATCTCC 0.587 SSX6 280657 broad.mit.edu 37 X 47970738 47970738 + Missense_Mutation SNP G T T TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:47970738G>T uc004dix.1 + 4 401 c.279G>T c.(277-279)GAG>GAT p.E93D SSX6_uc011mlv.1_Missense_Mutation_p.E93D NM_173357 NP_775493 SubName: Full=Putative uncharacterized protein SSX1; 0 GTGGGAATGAGGGTGAGTAGA 0.468 DGKK 139189 broad.mit.edu 37 X 50134485 50134485 + Silent SNP A C C TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:50134485A>C uc010njr.1 - 11 1854 c.1794T>G c.(1792-1794)CCT>CCG p.P598P NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 598 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GGATGTCCAGAGGTGACTTGC 0.537 NAP1L2 4674 broad.mit.edu 37 X 72433530 72433530 + Nonsense_Mutation SNP T A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:72433530T>A uc004ebi.2 - 1 1155 c.799A>T c.(799-801)AAG>TAG p.K267* NAP1L2_uc011mqj.1_Nonsense_Mutation_p.K125* NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 267 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) GTCAGGAGCTTCAGAATAGGC 0.368 PCDH11X 27328 broad.mit.edu 37 X 91132696 91132696 + Missense_Mutation SNP C T T rs62621113 TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:91132696C>T uc004efk.1 + 2 2302 c.1457C>T c.(1456-1458)ACG>ATG p.T486M PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 486 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATCCAGTTGACGAAAGTAAGT 0.438 FAM70A 55026 broad.mit.edu 37 X 119410875 119410875 + Silent SNP G A A TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 19f41e2f-cff9-4f04-ba65-6d945bf05edd a699d990-8181-471d-8b54-4b71171c9142 g.chrX:119410875G>A uc004eso.3 - 8 839 c.612C>T c.(610-612)TAC>TAT p.Y204Y FAM70A_uc004esp.3_Silent_p.Y180Y|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 204 integral to membrane lung(1)|breast(1) 2 CGATGTATTCGTAGTACCCAC 0.582