Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CALML6 163688 broad.mit.edu 37 1 1848429 1848429 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:1848429G>T uc001aih.1 + 5 869 c.415G>T c.(415-417)GCA>TCA p.A139S NM_138705 NP_619650 Q8TD86 CALL6_HUMAN calmodulin-like 6 139 EF-hand 3. cytoplasm|nucleus calcium ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTAATGAACGCAGGGGAGCC 0.667 NaN 1 0 8.34094e-07 0.049695 8.73136e-07 20 43 ACOT7 11332 broad.mit.edu 37 1 6445578 6445578 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:6445578G>C uc001ams.2 - 1 306 c.149C>G c.(148-150)CCC>CGC p.P50R ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Intron|ACOT7_uc001amu.2_Intron|ACOT7_uc001amv.2_Intron NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 50 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) GGCTCCACAGGGTGGGAGATC 0.652 NaN 0 0 0 0.048971 0 90 154 GRIK3 2899 broad.mit.edu 37 1 37319237 37319237 + Silent SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:37319237C>A uc001caz.2 - 8 1326 c.1191G>T c.(1189-1191)CTG>CTT p.L397L GRIK3_uc001cba.1_Silent_p.L397L NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 397 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATCCTCTTTCAGGCTGATGA 0.542 NaN 1 0 1.42536e-11 0.099896 1.53788e-11 28 41 LRRC7 57554 broad.mit.edu 37 1 70488833 70488833 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:70488833G>A uc001dep.2 + 15 1486 c.1456G>A c.(1456-1458)GAA>AAA p.E486K LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 486 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGCCCCCTGGGAAAGGGGCCA 0.517 NaN 0 0 0 0.038395 0 18 71 LRRC40 55631 broad.mit.edu 37 1 70616831 70616831 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:70616831C>T uc001der.1 - 13 1549 c.1497G>A c.(1495-1497)ACG>ACA p.T499T NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 499 LRR 17. ovary(1) 1 AAAGATTGATCGTTTGCAGTC 0.294 NaN 0 0 0 0.038147 0 6 22 KCNA10 3744 broad.mit.edu 37 1 111061072 111061072 + Missense_Mutation SNP C C T rs141128096 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:111061072C>T uc001dzt.1 - 1 726 c.338G>A c.(337-339)GGA>GAA p.G113E NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 113 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TTCCCGGTCTCCCAGGAGAGT 0.458 NaN 0 0 0 0.055883 0 21 44 SEC22B 9554 broad.mit.edu 37 1 145103968 145103968 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:145103968G>A uc001eml.1 + 4 276 c.136G>A c.(136-138)GAA>AAA p.E46K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 46 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 AAAGTTGAATGAACAGTCCCC 0.383 NaN 0 0 0 0.0333 0 16 33 FLG 2312 broad.mit.edu 37 1 152283577 152283577 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:152283577G>C uc001ezu.1 - 3 3821 c.3785C>G c.(3784-3786)ACA>AGA p.T1262R uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1262 Ser-rich.|Filaggrin 7. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCTGCTTGTCCTGGACCC 0.532 NaN Ichthyosis 0 0 0 0.048971 0 87 771 FLG2 388698 broad.mit.edu 37 1 152324511 152324511 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:152324511C>G uc001ezw.3 - 3 5824 c.5751G>C c.(5749-5751)AAG>AAC p.K1917N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1917 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTGGTGTCTCTTGTGAACTG 0.502 NaN 0 0 0 0.048971 0 70 546 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:155161799T>G uc010pft.1 - 2 400 c.334A>C c.(334-336)ACC>CCC p.T112P RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P P15941 MUC1_HUMAN SubName: Full=MUC1 isoform M13; 112 Extracellular (Potential).|3. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711 NaN T IGH@ B-NHL 0 0 0 0.099896 0 16 62 IQGAP3 128239 broad.mit.edu 37 1 156500962 156500962 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:156500962G>A uc001fpf.2 - 33 4256 c.4181C>T c.(4180-4182)TCC>TTC p.S1394F NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1394 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTGCTCTCTGGAAGCCGAGAG 0.582 NaN 0 0 0 0.048971 0 42 267 CD1E 913 broad.mit.edu 37 1 158325145 158325145 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:158325145C>T uc001fse.2 + 3 650 c.411C>T c.(409-411)TTC>TTT p.F137F CD1E_uc010pid.1_Silent_p.F135F|CD1E_uc010pie.1_Silent_p.F38F|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.F137F|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.F137F|CD1E_uc001fry.2_Silent_p.F137F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.F137F|CD1E_uc009wsv.2_Silent_p.F38F|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 137 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CACAAATCTTCTTAAATATGG 0.463 NaN 0 0 0 0.11126 0 43 257 F5 2153 broad.mit.edu 37 1 169505755 169505755 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:169505755C>T uc001ggg.1 - 14 5105 c.4960G>A c.(4960-4962)GAT>AAT p.D1654N NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1654 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGGATAACATCATCCACTTCA 0.458 NaN 0 0 0 0.021553 0 5 26 FAM5C 339479 broad.mit.edu 37 1 190067739 190067739 + Silent SNP A A C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:190067739A>C uc001gse.1 - 8 1942 c.1710T>G c.(1708-1710)GCT>GCG p.A570A FAM5C_uc010pot.1_Silent_p.A468A NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 570 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGACATAAACAGCCAACACTG 0.453 NaN 0 0 0 0.014758 0 5 125 CD34 947 broad.mit.edu 37 1 208072507 208072507 + Silent SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:208072507A>G uc001hgw.1 - 3 585 c.327T>C c.(325-327)TCT>TCC p.S109S CD34_uc001hgx.1_Silent_p.S109S|CD34_uc010psj.1_Intron NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 109 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GTGACTGGACAGAAGAGTTTG 0.468 NaN 0 0 0 0.048971 0 130 64 DISP1 84976 broad.mit.edu 37 1 223177436 223177436 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:223177436G>A uc001hnu.1 + 8 2844 c.2697G>A c.(2695-2697)AGG>AGA p.R899R NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 899 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AGCTGGAAAGGAGTACAGGGT 0.493 NaN 0 0 0 0.108266 0 27 45 SUSD4 55061 broad.mit.edu 37 1 223465953 223465953 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:223465953G>A uc001hnx.2 - 2 823 c.189C>T c.(187-189)CCC>CCT p.P63P SUSD4_uc001hny.3_Silent_p.P63P|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.P63P|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 63 Sushi 1.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) AGCCATTCTCGGGAATGCCGG 0.517 NaN 0 0 0 0.048971 0 47 32 RGS7 6000 broad.mit.edu 37 1 241099994 241099994 + Missense_Mutation SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:241099994T>C uc001hyv.2 - 5 569 c.239A>G c.(238-240)CAT>CGT p.H80R RGS7_uc010pyh.1_Missense_Mutation_p.H54R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.H80R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H80R NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 80 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGTTCCCAAATGGAGCGCCTC 0.383 NaN 0 0 0 0.083992 0 24 49 OR2M2 391194 broad.mit.edu 37 1 248343646 248343646 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:248343646A>G uc010pzf.1 + 1 359 c.359A>G c.(358-360)TAT>TGT p.Y120C NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTTATGGCTTATGACCGCTAT 0.413 NaN 0 0 0 0.048971 0 53 215 PITRM1 10531 broad.mit.edu 37 10 3180309 3180309 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr10:3180309C>T uc010qah.1 - 24 2766 c.2734G>A c.(2734-2736)GGC>AGC p.G912S PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Missense_Mutation_p.G115S|PITRM1_uc001igt.1_Missense_Mutation_p.G1010S E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 912 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 TTCCCAGTGCCGAGGTATCTG 0.607 NaN 0 0 0 0.021553 0 5 6 CDH23 64072 broad.mit.edu 37 10 73571082 73571082 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr10:73571082A>G uc001jrx.3 + 61 9465 c.9088A>G c.(9088-9090)ATG>GTG p.M3030V CDH23_uc001jsg.3_Missense_Mutation_p.M790V|CDH23_uc001jsh.3_Missense_Mutation_p.M790V|CDH23_uc001jsi.3_Missense_Mutation_p.M790V|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3030 Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGTGATCCAGATGATCGATGA 0.592 NaN 0 0 0 0.09836 0 39 31 SORCS3 22986 broad.mit.edu 37 10 106982952 106982952 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr10:106982952G>C uc001kyi.1 + 20 3040 c.2813G>C c.(2812-2814)TGG>TCG p.W938S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 938 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCAGTCGTGTGGCCCAGTCAA 0.443 NaN 0 0 0 0.048971 0 89 16 FAM175B 23172 broad.mit.edu 37 10 126523241 126523241 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr10:126523241G>A uc001lib.3 + 9 994 c.949G>A c.(949-951)GAA>AAA p.E317K NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 317 BRISC complex polyubiquitin binding 0 AAACAATCAAGAAAGTACTTT 0.517 NaN 0 0 0 0.028581 0 17 37 CYP2E1 1571 broad.mit.edu 37 10 135350635 135350635 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr10:135350635G>C uc001lnj.1 + 7 1069 c.1036G>C c.(1036-1038)GAG>CAG p.E346Q CYP2E1_uc001lnk.1_Missense_Mutation_p.E209Q|CYP2E1_uc009ybl.1_Missense_Mutation_p.E147Q|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.E147Q NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 346 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GGATAGGCAAGAGATGCCCTA 0.517 NaN Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 0 0 0 0.020292 0 13 41 KRTAP5-1 387264 broad.mit.edu 37 11 1605847 1605847 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:1605847G>A uc001ltu.1 - 1 667 c.633C>T c.(631-633)CCC>CCT p.P211P LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 211 8 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCAACACACGGGCACACCGC 0.657 NaN 0 0 0 0.11126 0 40 95 OR51A4 401666 broad.mit.edu 37 11 4967470 4967470 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:4967470C>T uc010qys.1 - 1 861 c.861G>A c.(859-861)CTG>CTA p.L287L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGGTTCGTCAGTGGAGGTA 0.428 NaN 0 0 0 0.041601 0 33 59 OR10A2 341276 broad.mit.edu 37 11 6891085 6891085 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:6891085C>A uc001meu.1 + 1 100 c.100C>A c.(100-102)CTG>ATG p.L34M NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 34 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCTCATCATTCTGGTTACCCT 0.463 NaN 1 0 9.59835e-30 0.048971 1.09823e-29 56 127 OR4X2 119764 broad.mit.edu 37 11 48267353 48267353 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:48267353G>A uc001ngs.1 + 1 698 c.698G>A c.(697-699)GGG>GAG p.G233E NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 233 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCACCTGTGGGTCCCATTTC 0.522 NaN 0 0 0 0.047766 0 9 47 OR4C3 256144 broad.mit.edu 37 11 48346728 48346728 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:48346728C>T uc010rhv.1 + 1 236 c.236C>T c.(235-237)ACG>ATG p.T79M NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCCAGCCCCACGCTGGCTTCC 0.448 NaN 0 0 0 0.037714 0 31 60 OR4C13 283092 broad.mit.edu 37 11 49974164 49974164 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:49974164C>T uc010rhz.1 + 1 190 c.190C>T c.(190-192)CTC>TTC p.L64F NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CCTGGCCTATCTCTCCTTTAT 0.433 NaN 0 0 0 0.099896 0 25 242 OR5B17 219965 broad.mit.edu 37 11 58126261 58126261 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:58126261G>A uc010rke.1 - 1 282 c.282C>T c.(280-282)GCC>GCT p.A94A NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAGCAGCACAGGCACTGTAGG 0.483 NaN 0 0 0 0.054565 0 33 31 SLC22A12 116085 broad.mit.edu 37 11 64368979 64368979 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:64368979C>T uc001oam.1 + 10 2365 c.1618C>T c.(1618-1620)CAT>TAT p.H540Y SLC22A12_uc001oal.1_Missense_Mutation_p.H319Y|SLC22A12_uc009yps.1_Missense_Mutation_p.H506Y|SLC22A12_uc001oan.1_Missense_Mutation_p.H432Y NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 540 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GAAGGCAACACATGGCACGCT 0.567 NaN 0 0 0 0.021553 0 6 17 MRPL11 65003 broad.mit.edu 37 11 66206132 66206132 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:66206132C>G uc001ohz.3 - 1 179 c.94G>C c.(94-96)GGG>CGG p.G32R MRPL11_uc001ohy.3_Missense_Mutation_p.G32R|MRPL11_uc001oia.3_Intron NM_016050 NP_057134 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 isoform a 32 translation structural constituent of ribosome 0 AGTGGGGGCCCGGGCATGGCC 0.697 NaN 0 0 0 0.092188 0 38 13 CLPB 81570 broad.mit.edu 37 11 72012890 72012890 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:72012890G>A uc001osj.2 - 12 1426 c.1376C>T c.(1375-1377)GCC>GTC p.A459V CLPB_uc010rqx.1_Missense_Mutation_p.A414V|CLPB_uc010rqy.1_Missense_Mutation_p.A400V|CLPB_uc001osk.2_Missense_Mutation_p.A429V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A258V|CLPB_uc001osi.2_Missense_Mutation_p.A67V NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 459 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 ATCTGGATGGGCCTTGTCTAC 0.567 NaN 0 0 0 0.047766 0 9 265 UCP2 7351 broad.mit.edu 37 11 73689056 73689056 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:73689056C>A uc001oup.1 - 4 592 c.212G>T c.(211-213)CGT>CTT p.R71L UCP2_uc001ouq.1_Missense_Mutation_p.R71L NM_003355 NP_003346 P55851 UCP2_HUMAN uncoupling protein 2 71 Solcar 1. proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding 0 Breast(11;0.000112) GCCCTCAGTACGCACCATGGT 0.602 NaN 1 0 2.12129e-23 0.048971 2.39374e-23 54 41 CTSC 1075 broad.mit.edu 37 11 88070744 88070744 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:88070744G>A uc001pck.3 - 1 198 c.97C>T c.(97-99)CTT>TTT p.L33F CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.L33F|CTSC_uc001pcn.3_Missense_Mutation_p.L33F NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 33 immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGCAGGTCAAGATAGGTGCAG 0.672 NaN 0 0 0 0.021553 0 5 6 FAT3 120114 broad.mit.edu 37 11 92532148 92532148 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:92532148C>T uc001pdj.3 + 9 5986 c.5969C>T c.(5968-5970)TCA>TTA p.S1990L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1990 Extracellular (Potential).|Cadherin 18. 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) TATTCCACCTCAATCTCAGAG 0.428 NaN TCGA Ovarian(4;0.039) 0 0 0 0.048971 0 92 135 DIXDC1 85458 broad.mit.edu 37 11 111853166 111853166 + Silent SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:111853166A>G uc001pml.2 + 8 1170 c.873A>G c.(871-873)TTA>TTG p.L291L DIXDC1_uc001pmm.2_Silent_p.L80L|DIXDC1_uc001pmn.2_5'UTR NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 291 Potential.|Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AAGAATATTTAGAAAAAGAAA 0.433 NaN OREG0021331 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 18 ABCG4 64137 broad.mit.edu 37 11 119020905 119020905 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr11:119020905G>A uc001pvs.2 + 2 566 c.230G>A c.(229-231)CGC>CAC p.R77H ABCG4_uc009zar.2_Missense_Mutation_p.R77H NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 77 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCTGCTGGCGCAAAAGGGGT 0.622 NaN 0 0 0 0.048971 0 48 85 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:3649787T>C uc001qmf.2 + 2 458 c.91T>C c.(91-93)TCC>CCC p.S31P PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 31 SH3-binding 1. regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652 NaN 0 0 0 0.059317 0 21 137 GALNT8 26290 broad.mit.edu 37 12 4835870 4835870 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:4835870G>T uc001qne.1 + 2 476 c.384G>T c.(382-384)TGG>TGT p.W128C NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 128 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 TCAGGCAATGGGGCGAGGATC 0.517 NaN 1 0 8.58068e-18 0.034045 9.55135e-18 31 33 KIAA1467 57613 broad.mit.edu 37 12 13208856 13208856 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:13208856A>G uc001rbi.2 + 2 432 c.409A>G c.(409-411)AGC>GGC p.S137G KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 137 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CAGCACCTGGAGCCGCCACTT 0.517 NaN 0 0 0 0.020292 0 8 58 SOX5 6660 broad.mit.edu 37 12 23793806 23793806 + Silent SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:23793806G>T uc001rfw.2 - 8 1059 c.957C>A c.(955-957)ATC>ATA p.I319I SOX5_uc001rfx.2_Silent_p.I306I|SOX5_uc001rfy.2_Silent_p.I306I|SOX5_uc010siv.1_Silent_p.I306I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.I271I NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 319 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGGTAGTTGGGATCAGCTGAA 0.473 NaN 1 0 1.00221e-16 0.048971 1.10558e-16 49 74 DENND5B 160518 broad.mit.edu 37 12 31633168 31633168 + Missense_Mutation SNP A A T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:31633168A>T uc001rki.1 - 3 445 c.259T>A c.(259-261)TCT>ACT p.S87T DENND5B_uc001rkh.1_Missense_Mutation_p.S122T|DENND5B_uc009zjq.1_Missense_Mutation_p.S6T|DENND5B_uc001rkj.2_Missense_Mutation_p.S109T|DENND5B_uc001rkk.1_Missense_Mutation_p.S9T NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 87 UDENN. integral to membrane ovary(1)|central_nervous_system(1) 2 GTCCTGAAAGATAGCCCTTTA 0.353 NaN 0 0 0 0.009096 0 3 17 C12orf35 55196 broad.mit.edu 37 12 32136195 32136195 + Nonsense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:32136195C>A uc001rks.2 + 4 2720 c.2306C>A c.(2305-2307)TCA>TAA p.S769* NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 769 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TTAGTTCTGTCAGAGGTCAAA 0.378 NaN 1 0 2.08457e-15 0.045705 2.27913e-15 32 54 ARID2 196528 broad.mit.edu 37 12 46230707 46230707 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:46230707C>T uc001ros.1 + 8 956 c.956C>T c.(955-957)TCT>TTT p.S319F ARID2_uc001ror.2_Missense_Mutation_p.S319F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 319 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTATTACTTTCTGCACATAGT 0.378 NaN 0 0 0 0.049695 0 21 58 FMNL3 91010 broad.mit.edu 37 12 50044617 50044617 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:50044617C>T uc001ruv.1 - 17 2076 c.1842G>A c.(1840-1842)GCG>GCA p.A614A FMNL3_uc001ruw.1_Silent_p.A563A|FMNL3_uc001rut.1_Silent_p.A180A|FMNL3_uc001ruu.1_Silent_p.A464A NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 614 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 CAGGGCCCTGCGCTTTTGTCT 0.498 NaN 0 0 0 0.045705 0 31 79 NR4A1 3164 broad.mit.edu 37 12 52449884 52449884 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:52449884G>A uc001rzs.2 + 4 1261 c.947G>A c.(946-948)CGA>CAA p.R316Q NR4A1_uc010sno.1_Missense_Mutation_p.R329Q|NR4A1_uc001rzt.2_Missense_Mutation_p.R316Q|NR4A1_uc009zmc.2_5'Flank NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 316 NR C4-type.|Nuclear receptor. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) AAGAGGCGGCGAAACCGCTGC 0.632 NaN 0 0 0 0.062417 0 22 96 NAB2 4665 broad.mit.edu 37 12 57485744 57485744 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:57485744C>G uc001smz.2 + 2 1298 c.920C>G c.(919-921)TCT>TGT p.S307C NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 307 NCD2. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CGTTTCGACTCTAAGCGGCGG 0.567 NaN 0 0 0 0.009096 0 4 97 TBK1 29110 broad.mit.edu 37 12 64875732 64875732 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:64875732G>A uc001ssc.1 + 8 985 c.923G>A c.(922-924)CGA>CAA p.R308Q NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 308 Protein kinase. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) ATACTTCACCGAATGGTAATT 0.348 NaN 0 0 0 0.058154 0 10 27 VEZT 55591 broad.mit.edu 37 12 95656756 95656756 + Silent SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr12:95656756G>T uc001tdz.2 + 4 438 c.333G>T c.(331-333)CTG>CTT p.L111L VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L63L|VEZT_uc001tdt.2_Silent_p.L63L|VEZT_uc009zsz.1_Silent_p.L111L|VEZT_uc001tdv.2_Silent_p.L80L|VEZT_uc001tdw.1_Silent_p.L63L|VEZT_uc009zta.1_Silent_p.L63L NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 111 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 ATGTGGAGCTGATTGAGCTAC 0.453 NaN 1 0 9.45814e-24 0.074837 1.07221e-23 38 108 RB1 5925 broad.mit.edu 37 13 49050981 49050981 + Splice_Site SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 T C T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr13:49050981T>C uc001vcb.2 + 25 2829 c.2663_splice c.e25+2 p.S888_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGATGGAAGGTAGGAACCAGT 0.453 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.108266 0 25 74 NALCN 259232 broad.mit.edu 37 13 101720314 101720314 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr13:101720314G>A uc001vox.1 - 39 4591 c.4402C>T c.(4402-4404)CGC>TGC p.R1468C NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1468 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAAAGTGGCGAAGATCATTG 0.363 NaN 0 0 0 0.009096 0 4 56 TPP2 7174 broad.mit.edu 37 13 103249446 103249446 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr13:103249446G>A uc001vpi.3 + 1 161 c.58G>A c.(58-60)GAG>AAG p.E20K NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 20 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCCGAAGAAGGAGACCGGAGC 0.677 NaN 0 0 0 0.069234 0 10 29 ZNF828 283489 broad.mit.edu 37 13 115089871 115089871 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr13:115089871C>T uc010ahb.2 + 3 883 c.554C>T c.(553-555)CCT>CTT p.P185L ZNF828_uc001vuv.2_Missense_Mutation_p.P185L|ZNF828_uc010tko.1_Missense_Mutation_p.P185L NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 185 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) GTTTCTTCTCCTGAACCTCCA 0.507 NaN 0 0 0 0.11126 0 42 156 C14orf101 54916 broad.mit.edu 37 14 57052563 57052563 + Missense_Mutation SNP C C T rs144727961 by1000genomes TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr14:57052563C>T uc001xcm.2 + 3 399 c.277C>T c.(277-279)CGC>TGC p.R93C C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 93 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) AATTGCCTACCGCGTCAATCT 0.403 NaN 0 0 0 0.069288 0 21 50 ALKBH1 8846 broad.mit.edu 37 14 78140190 78140190 + Missense_Mutation SNP C C T rs146924402 byFrequency TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr14:78140190C>T uc001xuc.1 - 6 1144 c.1135G>A c.(1135-1137)GAA>AAA p.E379K ALKBH1_uc001xud.1_RNA NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 379 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CGTTTTACTTCGCTATTCTGG 0.463 NaN 0 0 0 0.099896 0 27 44 CDC42BPB 9578 broad.mit.edu 37 14 103426018 103426018 + Missense_Mutation SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr14:103426018T>C uc001ymi.1 - 21 3083 c.2851A>G c.(2851-2853)ATT>GTT p.I951V CDC42BPB_uc001ymj.1_Missense_Mutation_p.I79V NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 951 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TACTCAAAAATGGAATCCTGA 0.333 NaN 0 0 0 0.038395 0 15 4 HERC2 8924 broad.mit.edu 37 15 28456242 28456242 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr15:28456242G>A uc001zbj.2 - 44 7081 c.6975C>T c.(6973-6975)ATC>ATT p.I2325I NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2325 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTGCTTTCAGGATGTATAGCT 0.577 NaN 0 0 0 0.059317 0 30 48 NARG2 79664 broad.mit.edu 37 15 60740312 60740312 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr15:60740312C>G uc002agp.2 - 11 2387 c.2152G>C c.(2152-2154)GAT>CAT p.D718H NARG2_uc002ago.2_Missense_Mutation_p.D581H|NARG2_uc002agq.3_Intron NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 718 nucleus ovary(1)|lung(1) 2 TCCGATGTATCTTCAACATAG 0.363 NaN 0 0 0 0.043863 0 20 36 CCDC78 124093 broad.mit.edu 37 16 775574 775574 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:775574G>A uc002cjg.2 - 4 380 c.274C>T c.(274-276)CGG>TGG p.R92W CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R166W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R92W|CCDC78_uc002cjk.2_Missense_Mutation_p.R92W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 92 Potential. central_nervous_system(1) 1 Hepatocellular(780;0.0218) CTCTCCAGCCGAAGGATCTGT 0.677 NaN 0 0 0 0.09319 0 12 43 CEMP1 752014 broad.mit.edu 37 16 2580885 2580885 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:2580885C>T uc002cqr.2 - 1 546 c.190G>A c.(190-192)GTG>ATG p.V64M AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR NM_001048212 NP_001041677 Q6PRD7 CEMP1_HUMAN cementum protein 1 64 cytoplasm skin(1) 1 GGGATACCCACCTCTGCCTTG 0.662 NaN 0 0 0 0.049695 0 17 45 ZSCAN10 84891 broad.mit.edu 37 16 3139654 3139654 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:3139654G>A uc002ctv.1 - 5 1704 c.1616C>T c.(1615-1617)GCC>GTC p.A539V ZSCAN10_uc002cty.1_Missense_Mutation_p.A200V|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A457V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A467V NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 539 C2H2-type 8. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CAGGTGGCGGGCAAGGCTGGC 0.706 NaN 0 0 0 0.014758 0 5 19 OTOA 146183 broad.mit.edu 37 16 21696662 21696662 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:21696662G>C uc002djh.2 + 6 380 c.379G>C c.(379-381)GAA>CAA p.E127Q uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.E48Q NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 127 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) ATGCCTCTTAGAAGACAAGAA 0.557 NaN 0 0 0 0.014758 0 5 56 ZKSCAN2 342357 broad.mit.edu 37 16 25258366 25258366 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:25258366C>T uc002dod.3 - 5 1558 c.1151G>A c.(1150-1152)TGT>TAT p.C384Y ZKSCAN2_uc010vcl.1_Missense_Mutation_p.C180Y|ZKSCAN2_uc002doe.2_Missense_Mutation_p.C384Y NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 384 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) AAGGAAGCCACATTCTCGCAA 0.483 NaN 0 0 0 0.048971 0 94 72 PYDC1 260434 broad.mit.edu 37 16 31228334 31228334 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:31228334C>T uc002ebo.2 - 1 65 c.16G>A c.(16-18)GAG>AAG p.E6K TRIM72_uc002ebn.1_Intron NM_152901 NP_690865 Q8WXC3 PYDC1_HUMAN pyrin domain containing 1 6 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding 0 AGGATGGCCTCGCGCTTCGTT 0.647 NaN 0 0 0 0.02938 0 5 49 CIRH1A 84916 broad.mit.edu 37 16 69184784 69184784 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:69184784C>G uc002ews.3 + 8 1075 c.979C>G c.(979-981)CTC>GTC p.L327V CIRH1A_uc002ewr.2_Missense_Mutation_p.L327V|CIRH1A_uc002ewt.3_Missense_Mutation_p.L244V|CIRH1A_uc010cfi.2_Missense_Mutation_p.L244V|CIRH1A_uc010cfj.1_Missense_Mutation_p.L146V NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 327 WD 8. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) CGATGCCGCTCTCCGAAAAAT 0.522 NaN 0 0 0 0.043863 0 19 51 HYDIN 54768 broad.mit.edu 37 16 70841650 70841650 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:70841650C>T uc002ezr.2 - 86 15324 c.15196G>A c.(15196-15198)GAG>AAG p.E5066K HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 5067 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CGCACAGACTCTCCAGCGCGA 0.512 NaN 0 0 0 0.108266 0 28 91 PHLPP2 23035 broad.mit.edu 37 16 71682799 71682799 + Silent SNP T T A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr16:71682799T>A uc002fax.2 - 18 3972 c.3966A>T c.(3964-3966)GCA>GCT p.A1322A PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.A1255A NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 1322 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 GCAGTCATAGTGCTGTGTCGA 0.542 NaN 0 0 0 0.048971 0 52 28 OR1A1 8383 broad.mit.edu 37 17 3119784 3119784 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:3119784G>A uc010vrc.1 + 1 870 c.870G>A c.(868-870)CTG>CTA p.L290L NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCTACAGTCTGAGAAATCGGG 0.463 NaN 0 0 0 0.080422 0 38 104 CAMTA2 23125 broad.mit.edu 37 17 4883062 4883062 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:4883062G>A uc002gah.1 - 9 1663 c.1555C>T c.(1555-1557)CCA>TCA p.P519S CAMTA2_uc010cku.1_Missense_Mutation_p.P542S|CAMTA2_uc002gag.1_Missense_Mutation_p.P518S|CAMTA2_uc002gai.1_Missense_Mutation_p.P521S|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166S|CAMTA2_uc010vsu.1_Missense_Mutation_p.P332S NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 519 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGGATGCTTGGAGCTTCGTCA 0.557 NaN 0 0 0 0.042209 0 45 109 TP53 7157 broad.mit.edu 37 17 7577084 7577084 + Missense_Mutation SNP T T A rs121912667 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 T A T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:7577084T>A uc002gim.2 - 8 1048 c.854A>T c.(853-855)GAG>GTG p.E285V TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (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.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(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) ATTCTCTTCCTCTGTGCGCCG 0.562 111 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) 0 0 0 0.034045 0 30 36 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.062417 0 23 31 RPL26 6154 broad.mit.edu 37 17 8285552 8285552 + Missense_Mutation SNP C C T rs11542516 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:8285552C>T uc002glh.1 - 2 173 c.77G>A c.(76-78)CGA>CAA p.R26Q NM_000987 NP_000978 P61254 RL26_HUMAN ribosomal protein L26 26 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 AATCTTCCTTCGAATGTGGGA 0.418 NaN 0 0 0 0.069234 0 11 36 SUPT6H 6830 broad.mit.edu 37 17 27011886 27011886 + Silent SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:27011886G>T uc002hby.2 + 19 2484 c.2394G>T c.(2392-2394)CTG>CTT p.L798L SUPT6H_uc010crt.2_Silent_p.L798L NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 798 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TCTGCGCCCTGGTCAATGGTG 0.453 NaN 1 0 7.41877e-09 0.062417 7.90051e-09 21 46 PROCA1 147011 broad.mit.edu 37 17 27031334 27031334 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:27031334C>T uc002hcb.3 - 4 556 c.353G>A c.(352-354)CGG>CAG p.R118Q PROCA1_uc010crv.2_Missense_Mutation_p.R44Q|PROCA1_uc002hca.1_Missense_Mutation_p.R116Q NM_152465 NP_689678 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 144 lipid catabolic process calcium ion binding|phospholipase A2 activity ovary(1) 1 Lung NSC(42;0.00431) CCAGCCATACCGGAATCGCTC 0.642 NaN 0 0 0 0.048971 0 50 243 ABHD15 116236 broad.mit.edu 37 17 27893269 27893269 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:27893269C>G uc002hed.1 - 1 780 c.716G>C c.(715-717)GGC>GCC p.G239A TP53I13_uc002hee.2_5'Flank NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 precursor 239 extracellular region carboxylesterase activity 0 CAGCGCCGAGCCCGAGCCTTC 0.697 NaN 0 0 0 0.069234 0 11 46 PIGW 284098 broad.mit.edu 37 17 34894046 34894046 + Nonsense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:34894046C>T uc002hmy.1 + 2 1139 c.1096C>T c.(1096-1098)CGA>TGA p.R366* MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Nonsense_Mutation_p.R366* NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 366 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCAGTATCTCGAAGAATGGC 0.343 NaN 0 0 0 0.009096 0 4 65 ERBB2 2064 broad.mit.edu 37 17 37866359 37866359 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:37866359G>T uc002hso.2 + 6 902 c.664G>T c.(664-666)GGT>TGT p.G222C ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 222 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 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) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGTCTGTGCCGGTGGCTGTGC 0.647 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 1 0 2.96211e-45 0.048971 3.40504e-45 101 47 KRT38 8687 broad.mit.edu 37 17 39597029 39597029 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:39597029C>T uc002hwq.1 - 1 568 c.145G>A c.(145-147)GTG>ATG p.V49M NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 49 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GCATGTGCCACGTTGGCCAAA 0.632 NaN 0 0 0 0.069234 0 10 120 NKIRAS2 28511 broad.mit.edu 37 17 40175690 40175690 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:40175690G>A uc002hyq.2 + 4 420 c.355G>A c.(355-357)GGC>AGC p.G119S NKIRAS2_uc010wgd.1_Silent_p.L86L|NKIRAS2_uc002hyr.2_Missense_Mutation_p.G119S|NKIRAS2_uc002hys.2_Missense_Mutation_p.G119S|NKIRAS2_uc010wge.1_Missense_Mutation_p.G63S|NKIRAS2_uc002hyt.2_Missense_Mutation_p.G119S NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 119 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTGGTCCTTGGCAACAAGTG 0.572 NaN 0 0 0 0.069288 0 18 81 ITGA2B 3674 broad.mit.edu 37 17 42457993 42457993 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:42457993C>T uc002igt.1 - 14 1446 c.1414G>A c.(1414-1416)GGG>AGG p.G472R ITGA2B_uc002igu.1_5'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 472 Extracellular (Potential).|FG-GAP 7. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.G472R(1) ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TGGTTGGCCCCGTAAGCTCCC 0.597 NaN 0 0 0 0.039052 0 40 59 SPATA20 64847 broad.mit.edu 37 17 48628894 48628894 + Silent SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:48628894T>C uc002irf.2 + 12 1692 c.1551T>C c.(1549-1551)GCT>GCC p.A517A SPATA20_uc002irc.2_Silent_p.A184A|SPATA20_uc002ire.2_Silent_p.A473A|SPATA20_uc002ird.2_Silent_p.A533A|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 517 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CAGGCTATGCTGTGACTGGGG 0.582 NaN 0 0 0 0.09319 0 12 82 C17orf71 55181 broad.mit.edu 37 17 57289841 57289841 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:57289841C>G uc002ixi.2 + 2 1941 c.1899C>G c.(1897-1899)TTC>TTG p.F633L NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 633 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ATTATGACTTCTATCAGGTAG 0.368 NaN 0 0 0 0.014758 0 4 108 EVPL 2125 broad.mit.edu 37 17 74011020 74011020 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:74011020G>A uc002jqi.2 - 17 2427 c.2199C>T c.(2197-2199)GCC>GCT p.A733A EVPL_uc010wss.1_Silent_p.A755A|EVPL_uc010wst.1_Silent_p.A203A NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 733 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GGTCCCCTACGGCGTGGTAGC 0.542 NaN 0 0 0 0.009096 0 4 67 CARD14 79092 broad.mit.edu 37 17 78180861 78180861 + Silent SNP C C T rs140536892 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:78180861C>T uc002jxw.1 + 20 2979 c.2784C>T c.(2782-2784)AAC>AAT p.N928N CARD14_uc002jxt.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 928 Guanylate kinase-like. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TCTCTGTCAACGAGAAGATGG 0.612 NaN 0 0 0 0.11126 0 42 27 NPB 256933 broad.mit.edu 37 17 79860514 79860514 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:79860514G>A uc002kcd.2 + 2 350 c.268G>A c.(268-270)GTC>ATC p.V90I NM_148896 NP_683694 Q8NG41 NPB_HUMAN preproneuropeptide B precursor 90 neuropeptide signaling pathway extracellular region 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGTCCAGGACGTCGCCCCAAA 0.726 NaN 0 0 0 0.021553 0 6 33 HEXDC 284004 broad.mit.edu 37 17 80400084 80400084 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:80400084G>A uc002kew.2 + 12 1336 c.1285G>A c.(1285-1287)GAG>AAG p.E429K HEXDC_uc002kev.3_Silent_p.R458R|HEXDC_uc010diq.2_Missense_Mutation_p.G431E|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 429 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CCTCGTGCAGGAGCTGGAGGC 0.642 NaN 0 0 0 0.020292 0 13 57 AP3D1 8943 broad.mit.edu 37 19 2111719 2111719 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:2111719C>T uc002luz.2 - 23 2933 c.2710G>A c.(2710-2712)GAG>AAG p.E904K AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E863K|AP3D1_uc002lva.2_Missense_Mutation_p.E966K NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 904 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 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) TGCACCGGCTCCCCCGCTGCC 0.498 NaN 0 0 0 0.009096 0 4 8 XAB2 56949 broad.mit.edu 37 19 7684884 7684884 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:7684884C>T uc002mgx.2 - 17 2370 c.2344G>A c.(2344-2346)GAG>AAG p.E782K NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 782 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 CGCTCCGCCTCAGCCGCCAGC 0.667 NaN Direct_reversal_of_damage|NER 0 0 0 0.038395 0 16 63 CLEC4M 10332 broad.mit.edu 37 19 7831632 7831632 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:7831632C>G uc002mih.2 + 6 924 c.806C>G c.(805-807)TCC>TGC p.S269C CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.S225C|CLEC4M_uc010dvt.2_Missense_Mutation_p.S246C|CLEC4M_uc010dvs.2_Missense_Mutation_p.S268C|CLEC4M_uc010xjx.1_Missense_Mutation_p.S241C|CLEC4M_uc002mhz.2_Missense_Mutation_p.S200C|CLEC4M_uc002mic.2_Missense_Mutation_p.S264C|CLEC4M_uc002mia.2_Missense_Mutation_p.S156C NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 292 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 TGGCACGACTCCGTCACCGCC 0.597 NaN 0 0 0 0.055883 0 22 102 DOCK6 57572 broad.mit.edu 37 19 11312572 11312572 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:11312572C>T uc002mqs.3 - 44 5722 c.5681G>A c.(5680-5682)CGG>CAG p.R1894Q DOCK6_uc002mqr.3_Missense_Mutation_p.R294Q|DOCK6_uc010xlq.1_Missense_Mutation_p.R1233Q NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1894 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CACCTCCTCCCGGTGGCACAC 0.677 NaN 0 0 0 0.009096 0 4 12 MYO9B 4650 broad.mit.edu 37 19 17295781 17295781 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:17295781C>T uc010eak.2 + 17 2633 c.2481C>T c.(2479-2481)ATC>ATT p.I827I MYO9B_uc002nfi.2_Silent_p.I827I|MYO9B_uc002nfj.1_Silent_p.I827I NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 827 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CACCAAGCATCAGCGCCCAGT 0.557 NaN 0 0 0 0.080935 0 8 229 KLHL26 55295 broad.mit.edu 37 19 18779242 18779242 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:18779242G>A uc002njz.1 + 3 1062 c.1035G>A c.(1033-1035)ACG>ACA p.T345T NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 345 Kelch 1. ovary(1) 1 GCGAGCTCACGGAGATGGAGG 0.682 NaN 0 0 0 0.062417 0 19 17 ZNF492 57615 broad.mit.edu 37 19 22847804 22847805 + Missense_Mutation DNP GG GG TT TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:22847804_22847805GG>TT uc002nqw.3 + 4 1577_1578 c.1333_1334GG>TT c.(1333-1335)GGA>TTA p.G445L NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AATTCATACTGGAGAGAAGCCC 0.376 NaN 0 0 0 0.004672 0 26 47 ZNF792 126375 broad.mit.edu 37 19 35449114 35449114 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:35449114G>A uc002nxh.1 - 4 2032 c.1645C>T c.(1645-1647)CTG>TTG p.L549L NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 549 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGCTGCCTCAGATTGGACCTC 0.527 NaN 0 0 0 0.105934 0 13 37 CATSPERG 57828 broad.mit.edu 37 19 38845387 38845387 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:38845387G>C uc002oih.3 + 9 1122 c.1035G>C c.(1033-1035)AAG>AAC p.K345N CATSPERG_uc002oig.3_Missense_Mutation_p.K345N|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 345 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 AGTGCATCAAGAAGCTGTGCC 0.562 NaN 0 0 0 0.058154 0 9 256 CATSPERG 57828 broad.mit.edu 37 19 38845424 38845424 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:38845424G>C uc002oih.3 + 9 1159 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q CATSPERG_uc002oig.3_Missense_Mutation_p.E358Q|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 358 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CAATGGCTCTGAGTACATAAT 0.557 NaN 0 0 0 0.069234 0 11 337 C19orf54 284325 broad.mit.edu 37 19 41248439 41248439 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:41248439G>A uc002oou.1 - 6 1075 c.955C>T c.(955-957)CGG>TGG p.R319W C19orf54_uc002oow.1_Missense_Mutation_p.R147W|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 319 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAGTGGCCCGTGAGGGCGAG 0.647 NaN 0 0 0 0.080935 0 12 13 MEGF8 1954 broad.mit.edu 37 19 42866549 42866549 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:42866549G>A uc002otl.3 + 33 6292 c.5657G>A c.(5656-5658)CGC>CAC p.R1886H MEGF8_uc002otm.3_Missense_Mutation_p.R1494H NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1953 Extracellular (Potential).|PSI 5. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TCCACCCCCCGCTGTAAGTGG 0.607 NaN 0 0 0 0.048971 0 74 95 IRGC 56269 broad.mit.edu 37 19 44222828 44222828 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:44222828G>A uc002oxh.2 + 2 265 c.118G>A c.(118-120)GCC>ACC p.A40T NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 40 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CCCCCAGGCCGCCTCTCACCT 0.667 NaN 0 0 0 0.02938 0 6 116 ZFP112 7771 broad.mit.edu 37 19 44832186 44832186 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:44832186G>A uc010ejj.2 - 5 2255 c.2142C>T c.(2140-2142)GTC>GTT p.V714V ZFP112_uc002ozc.3_Silent_p.V708V|ZFP112_uc010xwy.1_Silent_p.V731V|ZFP112_uc010xwz.1_Silent_p.V713V NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 714 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 CTCCAGAATGGACACTCTGAT 0.463 NaN 0 0 0 0.045705 0 32 104 GEMIN7 79760 broad.mit.edu 37 19 45593632 45593632 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:45593632G>A uc002pap.1 + 3 411 c.260G>A c.(259-261)CGT>CAT p.R87H uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87H|GEMIN7_uc002par.1_Missense_Mutation_p.R87H NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 87 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) GAGGGTGTGCGTGTGGCCGCC 0.642 NaN 0 0 0 0.0333 0 17 59 SAE1 10055 broad.mit.edu 37 19 47646784 47646784 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:47646784G>A uc002pgc.2 + 2 188 c.132G>A c.(130-132)TTG>TTA p.L44L SAE1_uc002pgd.2_Silent_p.L44L|SAE1_uc010ekx.2_Silent_p.L44L|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR NM_016402 NP_057486 Q9UBE0 SAE1_HUMAN SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA; 44 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity ovary(1) 1 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TTGTCGGCTTGAAAGGACTTG 0.488 NaN 0 0 0 0.024245 0 15 92 GRIN2D 2906 broad.mit.edu 37 19 48919345 48919345 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:48919345C>T uc002pjc.3 + 7 1756 c.1668C>T c.(1666-1668)TTC>TTT p.F556F NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 556 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CCGTCCCCTTCGTGGAGACCG 0.667 NaN 0 0 0 0.0333 0 17 93 NR1H2 7376 broad.mit.edu 37 19 50881790 50881790 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:50881790G>A uc010enw.2 + 6 760 c.484G>A c.(484-486)GAA>AAA p.E162K NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E162K|NR1H2_uc002psa.3_Missense_Mutation_p.E65K NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 162 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CGTCCTTTCTGAAGAACAGAT 0.647 NaN 0 0 0 0.062417 0 21 98 CD33 945 broad.mit.edu 37 19 51742831 51742831 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:51742831C>T uc002pwa.2 + 7 1023 c.983C>T c.(982-984)GCC>GTC p.A328V CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.A201V|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 328 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TGTTCAGGTGCCGCCCCTACT 0.517 NaN 0 0 0 0.09319 0 11 31 ZNF468 90333 broad.mit.edu 37 19 53344325 53344325 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:53344325C>T uc002qaf.2 - 4 1373 c.1222G>A c.(1222-1224)GAG>AAG p.E408K ZNF468_uc002qae.2_Missense_Mutation_p.E355K NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) TAAGGTTTCTCTCCACTATGA 0.388 NaN 0 0 0 0.034045 0 29 110 NLRP12 91662 broad.mit.edu 37 19 54314478 54314478 + Silent SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:54314478C>A uc002qch.3 - 3 655 c.435G>T c.(433-435)GCG>GCT p.A145A NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A145A|NLRP12_uc002qcj.3_Silent_p.A145A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A145A NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 145 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCCTAGGCGCGCATTGCGGT 0.567 NaN 1 0 3.69857e-22 0.037714 4.15455e-22 26 138 NLRP7 199713 broad.mit.edu 37 19 55451478 55451478 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:55451478C>T uc002qih.3 - 4 785 c.709G>A c.(709-711)GAC>AAC p.D237N NLRP7_uc002qig.3_Missense_Mutation_p.D237N|NLRP7_uc002qii.3_Missense_Mutation_p.D237N|NLRP7_uc010esk.2_Missense_Mutation_p.D237N|NLRP7_uc010esl.2_Missense_Mutation_p.D265N NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 237 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CTTGGAATGTCATCCTGCAAT 0.557 NaN 0 0 0 0.069456 0 35 127 ZNF548 147694 broad.mit.edu 37 19 57910071 57910071 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:57910071C>T uc002qom.2 + 3 666 c.416C>T c.(415-417)TCA>TTA p.S139L ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S142L NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGATACCTTCATTTGGGAAG 0.478 NaN 0 0 0 0.062417 0 22 99 MYT1L 23040 broad.mit.edu 37 2 1983318 1983319 + Nonsense_Mutation DNP CC CC AT TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:1983318_1983319CC>AT uc002qxe.2 - 7 890_891 c.63_64GG>AT c.(61-66)GTGGAA>GTATAA p.E22* MYT1L_uc002qxd.2_Nonsense_Mutation_p.E22* NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 22 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ATGGCTGGTTCCACGGGAACTG 0.45 NaN 0 0 0 0.004672 0 18 43 CD207 50489 broad.mit.edu 37 2 71060168 71060168 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:71060168C>T uc002shg.2 - 4 627 c.580G>A c.(580-582)GTG>ATG p.V194M NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 194 Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TGAGAAACCACCTGTAGAATA 0.453 NaN 0 0 0 0.099896 0 27 18 DCTN1 1639 broad.mit.edu 37 2 74598210 74598210 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:74598210C>T uc002skx.2 - 9 1050 c.739G>A c.(739-741)GAG>AAG p.E247K DCTN1_uc002skv.2_Missense_Mutation_p.E113K|DCTN1_uc002sku.2_Missense_Mutation_p.E113K|DCTN1_uc002skw.1_Missense_Mutation_p.E223K|DCTN1_uc010ffd.2_Missense_Mutation_p.E227K|DCTN1_uc002sky.2_Missense_Mutation_p.E210K NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 247 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 TTCTCCAGCTCTTTTAGCTTT 0.562 NaN 0 0 0 0.105934 0 14 397 AUP1 550 broad.mit.edu 37 2 74756363 74756363 + Nonsense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:74756363G>A uc010yry.1 - 3 453 c.235C>T c.(235-237)CAG>TAG p.Q79* DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Nonsense_Mutation_p.Q79*|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Nonsense_Mutation_p.Q136*|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1; 79 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 GAGTCCTCCTGCCGGGCCACG 0.587 NaN 0 0 0 0.038147 0 8 26 HTRA2 27429 broad.mit.edu 37 2 74757942 74757942 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:74757942G>C uc002smi.1 + 2 1307 c.705G>C c.(703-705)CAG>CAC p.Q235H AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.Q235H|HTRA2_uc002smk.1_Missense_Mutation_p.Q235H|HTRA2_uc002sml.1_Missense_Mutation_p.Q235H|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 235 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TGAGGATTCAGACTAAGGTGG 0.572 NaN 0 0 0 0.092188 0 43 123 FER1L5 90342 broad.mit.edu 37 2 97368447 97368447 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:97368447C>T uc010fia.2 + 47 5474 c.5474C>T c.(5473-5475)GCG>GTG p.A1825V FER1L5_uc002sws.3_Missense_Mutation_p.A534V|FER1L5_uc002swt.3_Missense_Mutation_p.A534V|FER1L5_uc010yus.1_Missense_Mutation_p.A533V NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1825 C2 6. integral to membrane ovary(1) 1 GACTACCTGGCGGCGGAGCGC 0.612 NaN 0 0 0 0.038147 0 8 23 C2orf55 343990 broad.mit.edu 37 2 99463239 99463239 + Missense_Mutation SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:99463239T>C uc002szf.1 - 2 319 c.25A>G c.(25-27)ATT>GTT p.I9V NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 9 0 CGAAGCTTAATGTCCATCACC 0.502 NaN 0 0 0 0.048971 0 57 65 IL1F10 84639 broad.mit.edu 37 2 113832410 113832410 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:113832410C>A uc002tiu.2 + 4 304 c.229C>A c.(229-231)CCT>ACT p.P77T IL1F10_uc002tiv.2_Missense_Mutation_p.P77T|IL1F10_uc002tiw.2_Missense_Mutation_p.P69T NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 77 extracellular space cytokine activity|interleukin-1 receptor antagonist activity ovary(1) 1 AGAAGAGGGGCCTTCCCTACA 0.602 NaN 1 0 2.27111e-07 0.09319 2.38758e-07 13 41 NCKAP5 344148 broad.mit.edu 37 2 133542251 133542251 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:133542251C>A uc002ttp.2 - 14 2507 c.2133G>T c.(2131-2133)GAG>GAT p.E711D NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 711 protein binding 0 GAGGTAAAAGCTCAGTATGTT 0.433 NaN 1 0 1.16021e-09 0.034045 1.24634e-09 30 111 GRB14 2888 broad.mit.edu 37 2 165350941 165350941 + Silent SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:165350941T>C uc002ucl.2 - 13 2017 c.1476A>G c.(1474-1476)CCA>CCG p.P492P GRB14_uc010zcv.1_Silent_p.P405P|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 492 SH2. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 AATTACTTACTGGTATAATTT 0.323 NaN 0 0 0 0.059317 0 33 38 SCN9A 6335 broad.mit.edu 37 2 167108339 167108339 + Silent SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:167108339T>C uc010fpl.2 - 18 3716 c.3375A>G c.(3373-3375)GGA>GGG p.G1125G uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1136 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CTTCTCCTTCTCCAGGCAAAG 0.458 NaN 0 0 0 0.09319 0 11 46 TTN 7273 broad.mit.edu 37 2 179425858 179425858 + Missense_Mutation SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:179425858T>C uc010zfg.1 - 275 77521 c.77297A>G c.(77296-77298)GAC>GGC p.D25766G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19461G|TTN_uc010zfi.1_Missense_Mutation_p.D19394G|TTN_uc010zfj.1_Missense_Mutation_p.D19269G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26693 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) ACTAACTGAGTCAGCAGCATT 0.383 NaN 0 0 0 0.045705 0 31 127 TTN 7273 broad.mit.edu 37 2 179634499 179634499 + Nonsense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:179634499G>A uc010zfg.1 - 37 9033 c.8809C>T c.(8809-8811)CAG>TAG p.Q2937* TTN_uc010zfh.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q2891*|TTN_uc002unb.2_Nonsense_Mutation_p.Q2937* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2937 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) ATGATCAGCTGATGGAGTTTT 0.473 NaN 0 0 0 0.048971 0 50 182 INO80D 54891 broad.mit.edu 37 2 206872144 206872144 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:206872144C>T uc002vaz.3 - 10 2187 c.1782G>A c.(1780-1782)CTG>CTA p.L594L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 594 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CATCAGCACTCAGCTCTGGCG 0.498 NaN 0 0 0 0.058154 0 8 165 ZDBF2 57683 broad.mit.edu 37 2 207170653 207170653 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:207170653G>A uc002vbp.2 + 5 1651 c.1401G>A c.(1399-1401)ATG>ATA p.M467I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 467 nucleic acid binding|zinc ion binding ovary(3) 3 AATCCCAAATGATTGTTAAAG 0.323 NaN 0 0 0 0.069234 0 11 19 FASTKD2 22868 broad.mit.edu 37 2 207636741 207636741 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:207636741G>T uc002vbu.2 + 5 1524 c.1114G>T c.(1114-1116)GAT>TAT p.D372Y FASTKD2_uc002vbv.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbx.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbw.1_Missense_Mutation_p.D372Y NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 372 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GGTGGTCCTAGGTAAGAGGAA 0.333 NaN 1 0 0.000157383 0.038147 0.000162673 8 141 CHRND 1144 broad.mit.edu 37 2 233391291 233391291 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:233391291G>C uc002vsw.2 + 2 109 c.105G>C c.(103-105)GAG>GAC p.E35D CHRND_uc010zmg.1_Missense_Mutation_p.E35D|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 35 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TGTTTCAAGAGAAGGGCTACA 0.632 NaN 0 0 0 0.021553 0 6 43 TRPM8 79054 broad.mit.edu 37 2 234878872 234878872 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr2:234878872G>A uc002vvh.2 + 17 2197 c.2157G>A c.(2155-2157)AAG>AAA p.K719K TRPM8_uc010fyj.2_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 719 Extracellular (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTGTCGACAAGCACAAGAAGC 0.532 NaN 0 0 0 0.02938 0 6 95 XRN2 22803 broad.mit.edu 37 20 21309203 21309203 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr20:21309203C>T uc002wsf.1 + 4 417 c.322C>T c.(322-324)CGT>TGT p.R108C XRN2_uc002wsg.1_Missense_Mutation_p.R32C|XRN2_uc010zsk.1_Missense_Mutation_p.R54C NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 108 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 TCAGGCACCACGTGCTAAAAT 0.388 NaN 0 0 0 0.038147 0 8 27 SERINC3 10955 broad.mit.edu 37 20 43138622 43138622 + Nonsense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr20:43138622G>A uc002xme.2 - 5 657 c.523C>T c.(523-525)CAG>TAG p.Q175* SERINC3_uc002xmf.1_Nonsense_Mutation_p.Q175*|SERINC3_uc010ggs.1_Nonsense_Mutation_p.Q168*|SERINC3_uc010zwp.1_Nonsense_Mutation_p.Q120* NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 175 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) AGCACCAGCTGAATGAGGATG 0.433 NaN 0 0 0 0.020292 0 15 664 CD40 958 broad.mit.edu 37 20 44756829 44756829 + Silent SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr20:44756829C>A uc002xrg.1 + 7 689 c.612C>A c.(610-612)ATC>ATA p.I204I CD40_uc002xrh.1_Missense_Mutation_p.P184T|CD40_uc002xri.1_Missense_Mutation_p.P218T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 204 Helical; (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TCTTCGGGATCCTGTTTGCCA 0.572 NaN Immune_Deficiency_with_Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 9.16793e-09 0.0333 9.72117e-09 17 85 COL20A1 57642 broad.mit.edu 37 20 61943386 61943386 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr20:61943386C>T uc011aau.1 + 14 1882 c.1782C>T c.(1780-1782)AGC>AGT p.S594S COL20A1_uc011aav.1_Silent_p.S415S NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 594 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) ATGTGTCCAGCGAGGGTGGAC 0.677 NaN 0 0 0 0.069234 0 11 28 GABPA 2551 broad.mit.edu 37 21 27141436 27141436 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr21:27141436G>A uc002ylx.3 + 10 1785 c.1258G>A c.(1258-1260)GAA>AAA p.E420K GABPA_uc002yly.3_Missense_Mutation_p.E420K NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 420 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 TTTGGTCACAGAATGTGAACA 0.448 NaN 0 0 0 0.086207 0 38 102 C2CD2 25966 broad.mit.edu 37 21 43321769 43321769 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr21:43321769G>A uc002yzw.2 - 12 1764 c.1522C>T c.(1522-1524)CGG>TGG p.R508W C2CD2_uc002yzs.2_Translation_Start_Site|C2CD2_uc002yzt.2_Missense_Mutation_p.R124W|C2CD2_uc002yzu.2_Missense_Mutation_p.R340W|C2CD2_uc002yzv.2_Missense_Mutation_p.R353W|C2CD2_uc002yzx.1_Missense_Mutation_p.R353W NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 508 cytosol|extracellular region|nucleus ovary(1) 1 CTTTTCTTCCGTGGCGACTTG 0.498 NaN 0 0 0 0.0918 0 22 56 OSM 5008 broad.mit.edu 37 22 30659956 30659956 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr22:30659956G>A uc003ahb.2 - 3 727 c.675C>T c.(673-675)CAC>CAT p.H225H NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 225 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) TCAGGGCCTGGTGGGGGCTGT 0.657 NaN 0 0 0 0.038147 0 7 216 C22orf24 25775 broad.mit.edu 37 22 32330184 32330184 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr22:32330184G>A uc003aly.2 - 3 570 c.403C>T c.(403-405)CTG>TTG p.L135L C22orf24_uc003alx.2_RNA NM_015372 NP_056187 Q9Y442 CV024_HUMAN hypothetical protein LOC25775 135 integral to membrane central_nervous_system(1) 1 GGCTCCCTCAGGGCCTGGTGG 0.373 NaN 0 0 0 0.038395 0 17 4 GRM7 2917 broad.mit.edu 37 3 6903549 6903549 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:6903549G>A uc003bqm.2 + 1 748 c.474G>A c.(472-474)GGG>GGA p.G158G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G158G|GRM7_uc003bql.2_Silent_p.G158G NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 158 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GGGCTTCGGGGAGTTCGGTCT 0.612 NaN 0 0 0 0.038395 0 17 82 RARB 5915 broad.mit.edu 37 3 25637964 25637964 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:25637964C>G uc011awl.1 + 8 1291 c.1225C>G c.(1225-1227)CTC>GTC p.L409V RARB_uc003cdi.1_Missense_Mutation_p.L290V|RARB_uc003cdh.2_Missense_Mutation_p.L402V NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 409 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AATGCCACCTCTCATTCAAGA 0.433 NaN 0 0 0 0.11126 0 41 137 ZCWPW2 152098 broad.mit.edu 37 3 28562491 28562491 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:28562491G>A uc003ceh.2 + 9 961 c.793G>A c.(793-795)GAG>AAG p.E265K ZCWPW2_uc003cei.2_Missense_Mutation_p.E265K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E70K NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 265 zinc ion binding ovary(2) 2 AGTTGTCTGTGAGACGGAAGT 0.373 NaN 0 0 0 0.080935 0 12 40 ZNF445 353274 broad.mit.edu 37 3 44491019 44491019 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:44491019A>G uc003cnf.2 - 7 1265 c.917T>C c.(916-918)GTT>GCT p.V306A ZNF445_uc011azv.1_Missense_Mutation_p.V294A|ZNF445_uc011azw.1_Missense_Mutation_p.V306A NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 306 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AGGAGCAGCAACTGGATTCCC 0.522 NaN 0 0 0 0.030593 0 29 41 ZNF660 285349 broad.mit.edu 37 3 44636003 44636003 + Nonsense_Mutation SNP T T G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:44636003T>G uc003cnl.1 + 3 651 c.318T>G c.(316-318)TAT>TAG p.Y106* NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 106 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TGAAGCCCTATACATGCAGTG 0.443 NaN 0 0 0 0.009096 0 4 110 PROS1 5627 broad.mit.edu 37 3 93611935 93611935 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:93611935C>T uc003drb.3 - 10 1338 c.997G>A c.(997-999)GAT>AAT p.D333N PROS1_uc010hoo.2_Missense_Mutation_p.D202N|PROS1_uc003dqz.3_Missense_Mutation_p.D202N NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 333 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCTTCTGAATCATATGTCCGG 0.383 NaN 0 0 0 0.014758 0 5 34 ZIC1 7545 broad.mit.edu 37 3 147128662 147128662 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:147128662C>A uc003ewe.2 + 1 1482 c.763C>A c.(763-765)CAC>AAC p.H255N NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 255 C2H2-type 1; atypical. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCTAGTTACGCACGTCACCGT 0.557 NaN 1 0 1.08241e-25 0.048971 1.23274e-25 67 107 SHOX2 6474 broad.mit.edu 37 3 157815938 157815938 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:157815938C>T uc003fbr.2 - 5 1013 c.874G>A c.(874-876)GAT>AAT p.D292N SHOX2_uc003fbs.2_Missense_Mutation_p.D316N|SHOX2_uc010hvw.2_Missense_Mutation_p.D280N NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 292 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GAAGCCGAATCCGCGGCCAGC 0.672 NaN 0 0 0 0.048971 0 70 428 ATP13A4 84239 broad.mit.edu 37 3 193166040 193166040 + Missense_Mutation SNP A A C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr3:193166040A>C uc003ftd.2 - 18 2215 c.2107T>G c.(2107-2109)TTG>GTG p.L703V ATP13A4_uc003fte.1_Missense_Mutation_p.L703V|ATP13A4_uc011bsr.1_Missense_Mutation_p.L174V|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 703 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGCTCTTCCAAGACAGGTTTT 0.398 NaN 0 0 0 0.0333 0 15 72 GRXCR1 389207 broad.mit.edu 37 4 42895368 42895368 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:42895368C>T uc003gwt.2 + 1 85 c.85C>T c.(85-87)CTG>TTG p.L29L NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 29 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 TGGGCGAGTTCTGAAGGAAGT 0.522 NaN 0 0 0 0.059317 0 37 74 WDFY3 23001 broad.mit.edu 37 4 85634393 85634393 + Splice_Site SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:85634393C>T uc003hpd.2 - 51 8370 c.7962_splice c.e51-1 p.R2654_splice WDFY3_uc003hpe.1_Splice_Site_p.R265_splice NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGCCAAAAACCTGAAAAATTT 0.423 NaN 0 0 0 0.034045 0 30 99 FAT4 79633 broad.mit.edu 37 4 126370861 126370861 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:126370861C>G uc003ifj.3 + 9 8690 c.8690C>G c.(8689-8691)ACA>AGA p.T2897R FAT4_uc011cgp.1_Missense_Mutation_p.T1195R|FAT4_uc003ifi.1_Missense_Mutation_p.T375R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2897 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTATTTGCAACAGATCCTGAT 0.363 NaN 0 0 0 0.014758 0 5 89 DCLK2 166614 broad.mit.edu 37 4 151168844 151168844 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:151168844C>T uc003ilm.3 + 13 1968 c.1868C>T c.(1867-1869)TCT>TTT p.S623F DCLK2_uc003iln.3_Missense_Mutation_p.S622F|DCLK2_uc003ilo.3_Missense_Mutation_p.S640F|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 623 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) ATCACGGACTCTGCCAAGGTA 0.542 NaN 0 0 0 0.058154 0 9 14 PRSS48 345062 broad.mit.edu 37 4 152203350 152203350 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:152203350G>A uc011cif.1 + 3 266 c.266G>A c.(265-267)GGT>GAT p.G89D PRSS48_uc011cig.1_Intron NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN epidermis-specific serine protease-like protein 89 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1) 1 ATTACAGTAGGTGACTCAAGG 0.478 NaN 0 0 0 0.105934 0 13 168 SC4MOL 6307 broad.mit.edu 37 4 166254772 166254772 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:166254772C>G uc003ire.2 + 2 380 c.250C>G c.(250-252)CAA>GAA p.Q84E SC4MOL_uc010irb.2_Missense_Mutation_p.Q84E|SC4MOL_uc003irf.2_Intron NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 84 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) ATACAAAATTCAAAAGGTGAG 0.279 NaN 0 0 0 0.038147 0 8 11 SC4MOL 6307 broad.mit.edu 37 4 166263045 166263045 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:166263045C>A uc003ire.2 + 6 959 c.829C>A c.(829-831)CAG>AAG p.Q277K SC4MOL_uc003irf.2_Missense_Mutation_p.Q146K NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 277 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) AACAGACTCTCAGTATAATGC 0.363 NaN 1 0 6.31663e-08 0.024245 6.66906e-08 15 17 KIAA1430 57587 broad.mit.edu 37 4 186112120 186112120 + Silent SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:186112120T>C uc003ixf.3 - 2 378 c.231A>G c.(229-231)CCA>CCG p.P77P KIAA1430_uc003ixg.2_Silent_p.P77P NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 77 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) CGGGGTGTTCTGGGGGAAATT 0.348 NaN 0 0 0 0.02938 0 7 13 IL7R 3575 broad.mit.edu 37 5 35874558 35874558 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:35874558G>A uc003jjs.2 + 6 803 c.714G>A c.(712-714)ATG>ATA p.M238I IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 238 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CAGGGGAGATGGATCCTATCT 0.448 NaN 0 0 0 0.034045 0 30 98 NUP155 9631 broad.mit.edu 37 5 37371058 37371058 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:37371058C>T uc003jku.1 - 1 140 c.22G>A c.(22-24)GCG>ACG p.A8T NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A8T NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 8 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCATCGCCGCGCCCAACAAA 0.527 NaN 0 0 0 0.020292 0 15 106 GHR 2690 broad.mit.edu 37 5 42689121 42689121 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:42689121G>T uc003jmt.2 + 4 309 c.266G>T c.(265-267)AGG>ATG p.R89M GHR_uc011cpq.1_Intron NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 89 Extracellular (Potential). R -> K (in LARS). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TATACCAGAAGGTGCCACCAT 0.453 NaN 1 0 6.49762e-13 0.038395 7.07263e-13 19 111 ZNF608 57507 broad.mit.edu 37 5 123977030 123977030 + Missense_Mutation SNP G G T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:123977030G>T uc003ktq.1 - 7 4488 c.4365C>A c.(4363-4365)TTC>TTA p.F1455L ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.F150L NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1455 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCGCTGGCCGAAGGGGGAGT 0.567 NaN 1 0 1.15505e-17 0.11126 1.27992e-17 46 51 PHF15 23338 broad.mit.edu 37 5 133909338 133909338 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:133909338A>G uc003kzo.1 + 10 1617 c.1438A>G c.(1438-1440)AGA>GGA p.R480G PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 480 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCTCAGGTTAGAAATCTGTG 0.512 NaN 0 0 0 0.059317 0 36 12 PCDHA9 9752 broad.mit.edu 37 5 140229572 140229572 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:140229572C>T uc003lhu.2 + 1 2216 c.1492C>T c.(1492-1494)CGG>TGG p.R498W 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_uc003lht.1_Missense_Mutation_p.R498W NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 498 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGAGCGGCGGTTGGGCGA 0.672 NaN 0 0 0 0.048971 0 72 77 GLRA1 2741 broad.mit.edu 37 5 151202511 151202511 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:151202511C>G uc003lut.2 - 9 1384 c.1097G>C c.(1096-1098)GGA>GCA p.G366A GLRA1_uc003lur.2_Missense_Mutation_p.G358A|GLRA1_uc003lus.2_Missense_Mutation_p.G275A NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 366 Cytoplasmic (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCGGCCTTCTCCAGCTTCATC 0.562 NaN 0 0 0 0.080935 0 11 16 C5orf41 153222 broad.mit.edu 37 5 172517872 172517872 + Silent SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr5:172517872A>G uc003mch.2 + 4 994 c.690A>G c.(688-690)GAA>GAG p.E230E C5orf41_uc003mcg.2_Silent_p.E230E|C5orf41_uc003mcf.2_Silent_p.E230E|C5orf41_uc011dfd.1_Silent_p.E230E NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 230 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCATGTTGAATGTAAAGACT 0.413 NaN 0 0 0 0.034045 0 31 13 SLC22A23 63027 broad.mit.edu 37 6 3273582 3273582 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:3273582C>T uc003mvm.3 - 10 1768 c.1768G>A c.(1768-1770)GAG>AAG p.E590K uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvp.1_RNA NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 590 ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) ttgtgcagctcgatGATGGGT 0.478 NaN 0 0 0 0.021553 0 6 112 C6orf106 64771 broad.mit.edu 37 6 34574587 34574587 + Silent SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:34574587C>G uc003ojr.2 - 4 851 c.606G>C c.(604-606)CCG>CCC p.P202P C6orf106_uc003ojs.2_Silent_p.P136P NM_024294 NP_077270 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 isoform a 202 skin(2)|ovary(1) 3 CCTTACGATGCGGCTGTGTGT 0.478 NaN 0 0 0 0.009096 0 4 77 ETV7 51513 broad.mit.edu 37 6 36334426 36334426 + Missense_Mutation SNP G G A rs145392208 byFrequency TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:36334426G>A uc003omb.2 - 8 1171 c.1022C>T c.(1021-1023)CCG>CTG p.P341L ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P286L|ETV7_uc010jwj.2_Missense_Mutation_p.P282L|ETV7_uc010jwh.2_Missense_Mutation_p.P260L|ETV7_uc010jwi.2_Missense_Mutation_p.P264L|ETV7_uc011dtl.1_Missense_Mutation_p.P190L NM_016135 NP_057219 Q9Y603 ETV7_HUMAN ets variant 7 341 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGCCCCTCACGGAGAGATTTC 0.622 NaN 0 0 0 0.069456 0 36 97 DNAH8 1769 broad.mit.edu 37 6 38723820 38723820 + Missense_Mutation SNP A A G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:38723820A>G uc003ooe.1 + 8 1429 c.829A>G c.(829-831)AAT>GAT p.N277D NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAGGTATTATAATACCTCAGA 0.348 NaN 0 0 0 0.055883 0 18 44 LAMA2 3908 broad.mit.edu 37 6 129649559 129649559 + Splice_Site SNP T T C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:129649559T>C uc003qbn.2 + 29 4416 c.4311_splice c.e29+2 p.Q1437_splice LAMA2_uc003qbo.2_Splice_Site_p.Q1437_splice NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATATGCCAGGTAGTCCTCTGA 0.532 NaN 0 0 0 0.014758 0 4 67 NMBR 4829 broad.mit.edu 37 6 142409489 142409489 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:142409489G>A uc003qiu.2 - 1 448 c.307C>T c.(307-309)CGC>TGC p.R103C NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 103 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AAGAAGTAGCGCGAGGCGTCC 0.602 NaN 0 0 0 0.048971 0 75 13 SYNE1 23345 broad.mit.edu 37 6 152651705 152651705 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:152651705G>A uc010kiw.2 - 78 14717 c.14115C>T c.(14113-14115)GCC>GCT p.A4705A SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4705 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) CCTCCTCAACGGCCAGGTCGG 0.522 NaN HNSCC(10;0.0054) 0 0 0 0.076483 0 22 7 EVX1 2128 broad.mit.edu 37 7 27285924 27285924 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:27285924G>A uc003szd.1 + 3 1590 c.1104G>A c.(1102-1104)TCG>TCA p.S368S EVX1_uc011jzn.1_Silent_p.S186S|EVX1_uc010kuy.1_3'UTR NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 368 Ala-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CCGCCGCCTCGGACTTCACCT 0.751 NaN 0 0 0 0.058154 0 8 5 AVL9 23080 broad.mit.edu 37 7 32598622 32598622 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:32598622G>C uc003tcv.1 + 10 907 c.761G>C c.(760-762)AGT>ACT p.S254T AVL9_uc011kai.1_Missense_Mutation_p.S254T|AVL9_uc010kwj.1_Missense_Mutation_p.S95T NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 254 integral to membrane 0 CTTCAGGAAAGTAACCCATGT 0.423 NaN 0 0 0 0.0333 0 18 46 POU6F2 11281 broad.mit.edu 37 7 39379526 39379526 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:39379526C>T uc003thb.1 + 5 839 c.797C>T c.(796-798)ACC>ATC p.T266I POU6F2_uc010kxo.2_Missense_Mutation_p.T258I NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 266 Pro-rich.|Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 ccatctccaacccagcagagc 0.244 NaN 0 0 0 0.062417 0 23 45 ABHD11 83451 broad.mit.edu 37 7 73153094 73153094 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:73153094G>A uc003tzb.2 - 1 91 c.34C>T c.(34-36)CGC>TGC p.R12C RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.R12C|ABHD11_uc003tzc.2_Missense_Mutation_p.R12C|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Missense_Mutation_p.R12C|ABHD11_uc011kfc.1_Missense_Mutation_p.R12C NM_148912 NP_683710 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 isoform 1 12 hydrolase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CGGGTCCAGCGGAGCATGCTT 0.532 NaN 0 0 0 0.038147 0 8 26 CALCR 799 broad.mit.edu 37 7 93055890 93055890 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:93055890G>A uc003umv.1 - 15 1566 c.1305C>T c.(1303-1305)ACC>ACT p.T435T CALCR_uc011kia.1_Silent_p.T215T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.T401T|CALCR_uc003umw.2_Silent_p.T401T NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 417 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GGCGCTTCACGGTGGTTTGGA 0.522 NaN 0 0 0 0.064281 0 36 38 DYNC1I1 1780 broad.mit.edu 37 7 95442532 95442532 + Nonsense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:95442532G>A uc003uoc.3 + 4 525 c.248G>A c.(247-249)TGG>TAG p.W83* DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.W83*|DYNC1I1_uc010lfl.2_Intron NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 83 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTTTTAACATGGGATACCTGT 0.458 NaN 0 0 0 0.048971 0 46 35 PILRA 29992 broad.mit.edu 37 7 99997420 99997420 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:99997420G>A uc003uuo.1 + 7 1014 c.802G>A c.(802-804)GTC>ATC p.V268I PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Missense_Mutation_p.V195I|PILRA_uc003uuq.1_3'UTR NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 268 Cytoplasmic (Potential).|ITIM motif 1. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGGCATCGTCTATGCTTC 0.587 NaN 0 0 0 0.080422 0 40 139 TRIM56 81844 broad.mit.edu 37 7 100731304 100731304 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:100731304G>A uc003uxq.2 + 3 942 c.711G>A c.(709-711)GAG>GAA p.E237E TRIM56_uc003uxr.2_Silent_p.E237E NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 237 Potential. defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) GGAGGGTGGAGAAGGAGGCGC 0.726 NaN 0 0 0 0.004672 0 3 9 DLD 1738 broad.mit.edu 37 7 107546721 107546721 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:107546721G>A uc003vet.2 + 8 702 c.592G>A c.(592-594)GAT>AAT p.D198N DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.D150N|DLD_uc011kmh.1_Missense_Mutation_p.D175N|DLD_uc011kmi.1_Missense_Mutation_p.D99N NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 198 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) GATAGATGAAGATACAATAGT 0.234 NaN 0 0 0 0.047766 0 8 25 ZYX 7791 broad.mit.edu 37 7 143085644 143085644 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:143085644C>G uc003wcw.2 + 7 1362 c.1207C>G c.(1207-1209)CAG>GAG p.Q403E ZYX_uc011ktd.1_Missense_Mutation_p.Q246E|ZYX_uc003wcx.2_Missense_Mutation_p.Q403E|ZYX_uc011kte.1_Missense_Mutation_p.Q372E|ZYX_uc011ktf.1_Missense_Mutation_p.Q246E NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 403 LIM zinc-binding 1. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CGCTCTAGGGCAGCTGTTCCA 0.642 NaN 0 0 0 0.030593 0 26 84 SSPO 23145 broad.mit.edu 37 7 149512268 149512268 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr7:149512268G>A uc010lpk.2 + 76 10588 c.10588G>A c.(10588-10590)GGG>AGG p.G3530R NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3530 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGTAGACTGCGGGGGTGGCCA 0.662 NaN 0 0 0 0.024245 0 14 42 MYOM2 9172 broad.mit.edu 37 8 2026821 2026821 + Missense_Mutation SNP A A C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:2026821A>C uc003wpx.3 + 12 1407 c.1269A>C c.(1267-1269)GAA>GAC p.E423D MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 423 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GAAGATGTGAAGTAGGAACGA 0.378 NaN 0 0 0 0.050027 0 31 17 AMAC1L2 83650 broad.mit.edu 37 8 11189370 11189370 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:11189370G>A uc003wtp.1 + 1 876 c.755G>A c.(754-756)AGT>AAT p.S252N NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 252 Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) GACCTCCTGAGTTGGAGTTGT 0.632 NaN 0 0 0 0.02938 0 4 57 PXDNL 137902 broad.mit.edu 37 8 52321799 52321799 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:52321799G>A uc003xqu.3 - 17 2486 c.2385C>T c.(2383-2385)CCC>CCT p.P795P PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 795 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGCTGTGGTCGGGGGTGACGG 0.726 NaN 0 0 0 0.004672 0 3 3 PREX2 80243 broad.mit.edu 37 8 69020396 69020396 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:69020396C>T uc003xxv.1 + 24 2795 c.2768C>T c.(2767-2769)TCT>TTT p.S923F PREX2_uc011lez.1_Missense_Mutation_p.S858F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 923 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CAGGCCAAATCTAAAATCTCC 0.403 NaN 0 0 0 0.014758 0 5 32 PKHD1L1 93035 broad.mit.edu 37 8 110457754 110457754 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:110457754G>A uc003yne.2 + 38 5760 c.5656G>A c.(5656-5658)GCT>ACT p.A1886T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1886 Extracellular (Potential).|IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCGCACTCCCGCTGGGACCAC 0.433 NaN HNSCC(38;0.096) 0 0 0 0.004672 0 3 16 RAD21 5885 broad.mit.edu 37 8 117866640 117866640 + Missense_Mutation SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:117866640C>G uc003yod.2 - 9 1293 c.1005G>C c.(1003-1005)AAG>AAC p.K335N NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 335 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CTCTAATTGTCTTGCTATCCA 0.378 NaN 0 0 0 0.028581 0 14 57 ADCY8 114 broad.mit.edu 37 8 131922042 131922042 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:131922042C>T uc003ytd.3 - 6 1808 c.1552G>A c.(1552-1554)GGT>AGT p.G518S ADCY8_uc010mds.2_Missense_Mutation_p.G518S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 518 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCCAAAACACCGCACAGCACC 0.473 NaN HNSCC(32;0.087) 0 0 0 0.048971 0 63 51 SLC45A4 57210 broad.mit.edu 37 8 142228784 142228784 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:142228784C>T uc003ywd.1 - 4 1110 c.802G>A c.(802-804)GAC>AAC p.D268N SLC45A4_uc003ywc.1_Missense_Mutation_p.D268N|SLC45A4_uc010meq.1_Missense_Mutation_p.D266N NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 319 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGCTCCAGGTCCAGCGCGGTG 0.672 NaN 0 0 0 0.086207 0 39 86 TOP1MT 116447 broad.mit.edu 37 8 144406198 144406198 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr8:144406198G>A uc003yxz.2 - 7 950 c.931C>T c.(931-933)CGG>TGG p.R311W TOP1MT_uc011lkd.1_Missense_Mutation_p.R213W|TOP1MT_uc011lke.1_Missense_Mutation_p.R213W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R213W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R106W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R106W NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 311 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) GCCACCGCCCGCTGTCTCGTC 0.582 NaN 0 0 0 0.048971 0 66 48 SPAG8 26206 broad.mit.edu 37 9 35811307 35811307 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:35811307C>T uc003zye.2 - 2 851 c.736G>A c.(736-738)GAA>AAA p.E246K SPAG8_uc003zyf.2_Missense_Mutation_p.E163K|SPAG8_uc003zyg.2_Missense_Mutation_p.E246K NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 246 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TGCAAAAATTCCCAAGGTGGT 0.532 NaN 0 0 0 0.069234 0 10 345 NIPSNAP3B 55335 broad.mit.edu 37 9 107531159 107531159 + Missense_Mutation SNP G G A rs141198887 byFrequency TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:107531159G>A uc004bci.2 + 3 358 c.287G>A c.(286-288)CGA>CAA p.R96Q NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA NM_018376 NP_060846 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B 96 pancreas(1)|skin(1) 2 TTTGCTCATCGAGCTGAAGTT 0.343 NaN 0 0 0 0.047766 0 8 20 SVEP1 79987 broad.mit.edu 37 9 113252013 113252013 + Missense_Mutation SNP G G C TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:113252013G>C uc010mtz.2 - 9 2184 c.1847C>G c.(1846-1848)CCA>CGA p.P616R SVEP1_uc010mua.1_Missense_Mutation_p.P616R|SVEP1_uc004beu.2_Missense_Mutation_p.P616R NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 616 HYR 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ATCTCCAATTGGGAAAAGGTA 0.398 NaN 0 0 0 0.062417 0 21 44 LRSAM1 90678 broad.mit.edu 37 9 130265127 130265127 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:130265127G>A uc004brb.1 + 26 2466 c.2121G>A c.(2119-2121)CCG>CCA p.P707P LRSAM1_uc010mxk.1_Silent_p.P680P|LRSAM1_uc004brc.1_Silent_p.P707P|LRSAM1_uc004brd.1_Silent_p.P707P|LRSAM1_uc004bre.1_Silent_p.P287P|LRSAM1_uc004brg.1_Silent_p.P138P NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 707 RING-type. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GCACCTGCCCGCTGTGCCGCC 0.682 NaN 0 0 0 0.058154 0 10 7 ABO 28 broad.mit.edu 37 9 136137502 136137502 + Missense_Mutation SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:136137502C>T uc004cda.1 - 2 123 c.98G>A c.(97-99)GGT>GAT p.G33D ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron NM_020469 NP_065202 P16442 BGAT_HUMAN ABO blood group (alpha 33 Helical; Signal-anchor for type II membrane protein; (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TGTGTCTTACCCAAACAAGAC 0.488 NaN 0 0 0 0.009096 0 4 11 ADAMTSL2 9719 broad.mit.edu 37 9 136409600 136409600 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:136409600C>T uc011mdl.1 + 8 1248 c.691C>T c.(691-693)CTG>TTG p.L231L ADAMTSL2_uc004cei.2_Silent_p.L231L NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 231 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) AGGTTACTCTCTGGTGACCCA 0.587 NaN 0 0 0 0.045515 0 43 54 RXRA 6256 broad.mit.edu 37 9 137321028 137321028 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:137321028G>A uc004cfb.2 + 7 1147 c.985G>A c.(985-987)GGG>AGG p.G329R RXRA_uc004cfc.1_Missense_Mutation_p.G232R NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 329 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCTGGCCACCGGGCTGCACGT 0.682 NaN 0 0 0 0.030593 0 28 51 MAMDC4 158056 broad.mit.edu 37 9 139750013 139750013 + Silent SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr9:139750013G>A uc004cjs.2 + 12 1463 c.1413G>A c.(1411-1413)CCG>CCA p.P471P MAMDC4_uc011mej.1_Intron NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 471 Extracellular (Potential).|LDL-receptor class A 3. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GTGTGCCCCCGGAACAACTGT 0.701 NaN 0 0 0 0.004672 0 3 10 DHRSX 207063 broad.mit.edu 37 X 2184836 2184836 + Missense_Mutation SNP C C T rs149133886 TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chrX:2184836C>T uc004cqf.3 - 5 590 c.541G>A c.(541-543)GTC>ATC p.V181I NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 181 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GCAGAGGAGACGGTGACCACC 0.547 NaN 0 0 0 0.048971 0 113 103 DHRSX 207063 broad.mit.edu 37 X 2343295 2343295 + Missense_Mutation SNP C C A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chrX:2343295C>A uc004cqf.3 - 2 209 c.160G>T c.(160-162)GGC>TGC p.G54C NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 54 NAD or NADP (By similarity). binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TAGCCAATGCCATCTGTCCCT 0.408 NaN 1 0 2.62258e-09 0.039052 2.80502e-09 44 57 KIF4A 24137 broad.mit.edu 37 X 69626162 69626162 + Silent SNP C C T TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chrX:69626162C>T uc004dyg.2 + 27 3157 c.3030C>T c.(3028-3030)ACC>ACT p.T1010T KIF4A_uc010nkw.2_Silent_p.T1010T NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 1010 Globular.|Interaction with PRC1. QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334). anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 CTAAGGATACCCTTCTATCTC 0.443 NaN 0 0 0 0.042209 0 41 6 COL4A6 1288 broad.mit.edu 37 X 107433641 107433641 + Silent SNP T T A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chrX:107433641T>A uc004enw.3 - 20 1513 c.1410A>T c.(1408-1410)CTA>CTT p.L470L COL4A6_uc004env.3_Silent_p.L469L|COL4A6_uc011msn.1_Silent_p.L469L|COL4A6_uc010npk.2_Silent_p.L469L NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 470 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CTTTGAGGCCTAGGTTTCCTT 0.453 NaN Alport_syndrome_with_Diffuse_Leiomyomatosis 0 0 0 0.09836 0 42 14 NBPF9 400818 broad.mit.edu 37 1 144615246 144615247 + Splice_Site INS - - AG TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:144615246_144615247insAG uc009wig.1 + 3 190 c.114_splice c.e3+2 p.L38_splice NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Frame_Shift_Ins_p.K39fs|NBPF9_uc009wii.1_5'UTR|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 cytoplasm 0 GTAAACCTCAAAGAGATGTTTT 0.47 NaN NaN NaN NaN NaN NaN 8 235 --- --- TXNIP 10628 broad.mit.edu 37 1 145440061 145440064 + Frame_Shift_Del DEL AAAG AAAG - TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 AAAG - AAAG AAAG Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr1:145440061_145440064delAAAG uc001enn.3 + 4 836_839 c.495_498delAAAG c.(493-498)GAAAAGfs p.E165fs NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.E110fs NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 165_166 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding p.K166R(1) ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTAAAAAAGAAAAGAAAGTTTCCT 0.417 NaN NaN NaN NaN NaN NaN 123 642 --- --- PLD2 5338 broad.mit.edu 37 17 4721806 4721807 + Frame_Shift_Ins INS - - A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr17:4721806_4721807insA uc002fzc.2 + 20 2128_2129 c.2027_2028insA c.(2026-2028)CGAfs p.R676fs PLD2_uc002fzd.2_Frame_Shift_Ins_p.R676fs NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 676 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) TGGTGTTACCGAGTCTACGTGC 0.599 NaN NaN NaN NaN NaN NaN 19 80 --- --- ASNA1 439 broad.mit.edu 37 19 12856516 12856520 + Frame_Shift_Del DEL GCGGG GCGGG - TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr19:12856516_12856520delGCGGG uc002muv.2 + 4 566_570 c.552_556delGCGGG c.(550-558)GAGCGGGGCfs p.E184fs ASNA1_uc002muw.2_Frame_Shift_Del_p.E183fs NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 184_186 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding p.E184_L187del(1) ovary(2) 2 Adenosine triphosphate(DB00171) CCATCGTGGAGCGGGGCCTGGGCCG 0.644 NaN NaN NaN NaN NaN NaN 12 84 --- --- ZNF341 84905 broad.mit.edu 37 20 32336863 32336863 + Frame_Shift_Del DEL C C - TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr20:32336863delC uc002wzy.2 + 4 494 c.474delC c.(472-474)GGCfs p.G158fs ZNF341_uc002wzx.2_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.2_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 158 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGCCCCAGGGCCCCCCACCTG 0.537 NaN NaN NaN NaN NaN NaN 21 49 --- --- FSTL5 56884 broad.mit.edu 37 4 162954796 162954796 + Frame_Shift_Del DEL T T - TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr4:162954796delT uc003iqh.2 - 3 577 c.141delA c.(139-141)CAAfs p.Q47fs FSTL5_uc003iqi.2_Frame_Shift_Del_p.Q46fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.Q46fs|uc011cji.1_Intron NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 47 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAACTTTCTTGATTTTTTT 0.259 NaN NaN NaN NaN NaN NaN 2 4 --- --- KIF6 221458 broad.mit.edu 37 6 39507890 39507890 + Frame_Shift_Del DEL G G - TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d8ded-e77d-4a18-b51b-57b52bd6bce6 5cea95d6-c3e3-44ec-ac10-4f5ff302ee90 g.chr6:39507890delG uc003oot.2 - 13 1629 c.1534delC c.(1534-1536)CGCfs p.R512fs KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Frame_Shift_Del_p.R303fs|KIF6_uc011dua.1_Frame_Shift_Del_p.R512fs|KIF6_uc010jxb.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 512 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TTTCCTAGGCGGAAGGGTGGG 0.498 NaN NaN NaN NaN NaN NaN 8 254 --- ---