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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut UBIAD1 29914 broad.mit.edu 37 1 11333871 11333871 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:11333871C>A uc001asg.2 + 1 617 c.283C>A c.(283-285)CAC>AAC p.H95N NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 95 Helical; (Potential). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CCTGGCTGTGCACGGGGCCGG 0.567 NA 34 47 1.04594e-18 1.29696e-18 0.00623 1 0 UBR4 23352 broad.mit.edu 37 1 19501491 19501491 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:19501491G>A uc001bbi.2 - 21 2814 c.2810C>T c.(2809-2811)TCC>TTC p.S937F UBR4_uc001bbm.1_Missense_Mutation_p.S148F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 937 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCTTCTGGGGACAGGACACA 0.403 NA 37 34 0 0 0.00623 0 0 RIMS3 9783 broad.mit.edu 37 1 41101649 41101649 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:41101649T>C uc001cfu.1 - 4 767 c.298A>G c.(298-300)ACA>GCA p.T100A RIMS3_uc001cfv.1_Missense_Mutation_p.T100A NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 100 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CCCTGGCGTGTGACCCGGCTC 0.687 NA 6 46 0 0 0.001984 0 0 NFIA 4774 broad.mit.edu 37 1 61869785 61869785 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:61869785A>T uc001czw.2 + 8 1569 c.1085A>T c.(1084-1086)CAT>CTT p.H362L NFIA_uc001czy.2_Missense_Mutation_p.H354L|NFIA_uc010oos.1_Missense_Mutation_p.H407L|NFIA_uc001czv.2_Missense_Mutation_p.H362L|NFIA_uc001czx.2_Missense_Mutation_p.H10L|NFIA_uc009wae.2_5'Flank NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 362 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 GCAAGTCCGCATGCAACACCA 0.488 NA 25 120 0 0 0.005443 0 0 DNAJC6 9829 broad.mit.edu 37 1 65851413 65851414 + Nonsense_Mutation DNP TG TG AT TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:65851413_65851414TG>AT uc001dcd.1 + 7 812_813 c.648_649TG>AT c.(646-651)TGTGAC>TGATAC p.216_217CD>*Y DNAJC6_uc001dcc.1_Nonsense_Mutation_p.247_248CD>*Y|DNAJC6_uc010opc.1_Nonsense_Mutation_p.203_204CD>*Y|DNAJC6_uc001dce.1_Nonsense_Mutation_p.273_274CD>*Y NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 216_217 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 GCTATATGTGTGACCTACTGGC 0.46 NA 8 48 0 0 0.004672 0 0 C1orf173 127254 broad.mit.edu 37 1 75037335 75037335 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:75037335G>A uc001dgg.2 - 14 4278 c.4059C>T c.(4057-4059)GCC>GCT p.A1353A NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1353 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTCCTCTGCGGCTGTTTCTG 0.512 NA 52 63 0 0 0.01441 0 0 MCOLN3 55283 broad.mit.edu 37 1 85487754 85487754 + Missense_Mutation SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:85487754T>G uc001dkp.2 - 11 1412 c.1319A>C c.(1318-1320)AAG>ACG p.K440T MCOLN3_uc001dko.2_Missense_Mutation_p.K59T|MCOLN3_uc001dkq.2_Missense_Mutation_p.K384T NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 440 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) TATCAGTACCTTGTCATGGTA 0.423 NA 13 74 0 0 0.004007 0 0 SYPL2 284612 broad.mit.edu 37 1 110019462 110019462 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:110019462C>A uc001dxp.2 + 4 685 c.319C>A c.(319-321)CTC>ATC p.L107I SYPL2_uc001dxo.2_Missense_Mutation_p.L107I|SYPL2_uc010ovk.1_Missense_Mutation_p.L107I|SYPL2_uc001dxq.2_Missense_Mutation_p.L15I NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 107 Vesicular (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GACCATGCACCTCATGGGGGA 0.567 NA 6 33 0.00116845 0.00124903 0.001168 1 0 C1orf51 148523 broad.mit.edu 37 1 150259060 150259060 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:150259060A>T uc001euh.2 + 6 988 c.852A>T c.(850-852)TTA>TTT p.L284F C1orf51_uc001eui.2_Missense_Mutation_p.L196F|C1orf51_uc001euj.2_Missense_Mutation_p.L284F NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 284 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATGGTCCTTTAGGCACTGGAA 0.552 NA 83 112 0 0 0.01441 0 0 LCE1B 353132 broad.mit.edu 37 1 152785211 152785211 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:152785211A>G uc001faq.2 + 1 765 c.289A>G c.(289-291)AGC>GGC p.S97G NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 97 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTGCTGCAGCCAGCCCTC 0.647 NA 50 46 0 0 0.01441 0 0 TMEM79 84283 broad.mit.edu 37 1 156255080 156255080 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156255080C>G uc010phi.1 + 2 259 c.63C>G c.(61-63)AGC>AGG p.S21R SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Intron|TMEM79_uc009wrw.2_Missense_Mutation_p.S21R NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 21 integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) CAGAGAAGAGCTCACCCCAGG 0.602 NA 37 48 0 0 0.00623 0 0 BCAN 63827 broad.mit.edu 37 1 156628465 156628466 + Silent DNP CC CC AA TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156628465_156628466CC>AA uc001fpp.2 + 13 2904_2905 c.2568_2569CC>AA c.(2566-2571)ATCCGA>ATAAGA p.856_857IR>IR NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 856_857 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCCGCTGATCCGATGCCAAGA 0.634 NA 48 95 0 0 0.004672 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156946817 156946817 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:156946817C>T uc001fqo.2 - 7 1580 c.540G>A c.(538-540)CAG>CAA p.Q180Q ARHGEF11_uc001fqn.2_Silent_p.Q180Q NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 180 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCTGAGGATCTGGGTGGCAT 0.428 NA 121 127 0 0 0.01441 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738760 176738760 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:176738760A>G uc001gkz.2 + 16 5505 c.4341A>G c.(4339-4341)ACA>ACG p.T1447T PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1447 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTCTGCTCACATGTTCTTCTG 0.478 NA 31 48 0 0 0.003271 0 0 RYR2 6262 broad.mit.edu 37 1 237787114 237787114 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:237787114C>A uc001hyl.1 + 39 6086 c.5966C>A c.(5965-5967)CCA>CAA p.P1989Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1989 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTCCATGTCCAGAAGAAATT 0.318 NA 25 26 6.32553e-13 7.47015e-13 0.004656 1 0 RYR2 6262 broad.mit.edu 37 1 237791169 237791169 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:237791169G>A uc001hyl.1 + 41 6349 c.6229G>A c.(6229-6231)GAC>AAC p.D2077N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2077 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTCATTGAAGACCCCGAGCT 0.493 NA 10 8 0 0 0.008291 0 0 ZP4 57829 broad.mit.edu 37 1 238053780 238053780 + Silent SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:238053780A>T uc001hym.2 - 1 156 c.156T>A c.(154-156)CCT>CCA p.P52P LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 52 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTAGTACAGGAGGAGACGTTG 0.498 NSCLC(166;160 2029 11600 18754 19936) NA 8 25 0 0 0.004482 0 0 OR2T34 127068 broad.mit.edu 37 1 248737471 248737471 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr1:248737471G>A uc001iep.1 - 1 588 c.588C>T c.(586-588)GAC>GAT p.D196D NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAGGGAGACGTCAGAGCAGG 0.517 NA 45 83 0 0 0.013114 0 0 CUL2 8453 broad.mit.edu 37 10 35320243 35320243 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:35320243C>G uc001ixv.2 - 14 1581 c.1371G>C c.(1369-1371)ATG>ATC p.M457I CUL2_uc009xma.2_Missense_Mutation_p.M326I|CUL2_uc010qer.1_Missense_Mutation_p.M476I|CUL2_uc001ixw.2_Missense_Mutation_p.M457I|CUL2_uc010qes.1_Missense_Mutation_p.M394I NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 457 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 ATTTGTTGATCATGGCTTCTT 0.323 NA 15 18 0 0 0.00245 0 0 STOX1 219736 broad.mit.edu 37 10 70645813 70645813 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:70645813G>A uc001jos.2 + 3 2348 c.2261G>A c.(2260-2262)GGC>GAC p.G754D STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.G644D NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 754 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 ATGCTGCCTGGCCACAGTCAG 0.428 NA 39 31 0 0 0.00623 0 0 HMX3 340784 broad.mit.edu 37 10 124896850 124896850 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:124896850G>A uc010quc.1 + 2 677 c.677G>A c.(676-678)CGC>CAC p.R226H NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 226 cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CCGGCGTGCCGCAAGAAGAAG 0.672 NA 4 5 0 0 0.009096 0 0 DENND5A 23258 broad.mit.edu 37 11 9215164 9215164 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:9215164C>G uc001mhl.2 - 5 1269 c.1014G>C c.(1012-1014)CAG>CAC p.Q338H DENND5A_uc010rbw.1_Missense_Mutation_p.Q338H|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 338 DENN. liver(1) 1 CATAGACATGCTGCCACTGGA 0.473 NA 21 26 0 0 0.00333 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947393 57947393 + Silent SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:57947393G>T uc001nmj.2 + 3 793 c.477G>T c.(475-477)CGG>CGT p.R159R NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) CCTTGGTGCGGACAGTCTCAG 0.537 NA 16 37 3.45872e-05 3.79541e-05 0.004007 1 0 OR5B2 390190 broad.mit.edu 37 11 58190389 58190389 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:58190389T>A uc010rkg.1 - 1 346 c.346A>T c.(346-348)ATG>TTG p.M116L NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCATAGGCCATTGAGGCCAAC 0.512 NA 17 39 0 0 0.00499 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113531 66113531 + Silent SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:66113531G>T uc001ohr.2 - 2 1382 c.1237C>A c.(1237-1239)CGA>AGA p.R413R BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 413 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 CAGCAGCGTCGGGGAGAGTTG 0.522 NA 35 112 9.62906e-15 1.17059e-14 0.00623 1 0 DRD2 1813 broad.mit.edu 37 11 113288792 113288792 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:113288792A>G uc001pnz.2 - 2 673 c.352T>C c.(352-354)TGC>CGC p.C118R DRD2_uc010rwv.1_Missense_Mutation_p.C117R|DRD2_uc001poa.3_Missense_Mutation_p.C118R|DRD2_uc001pob.3_Missense_Mutation_p.C118R|DRD2_uc009yyr.1_Missense_Mutation_p.C118R NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 118 Helical; Name=3; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CTCGCCGTGCACATCATGACG 0.552 NA 8 29 0 0 0.006214 0 0 HTR3B 9177 broad.mit.edu 37 11 113813798 113813798 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:113813798C>A uc001pok.2 + 7 858 c.791C>A c.(790-792)CCA>CAA p.P264Q HTR3B_uc001pol.2_Missense_Mutation_p.P253Q NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 264 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTCTACCTGCCACCCAACTGC 0.587 NA 11 20 0.00136819 0.00145005 0.013537 1 0 Unknown 0 broad.mit.edu 37 12 31267720 31267720 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:31267720A>G uc010sjy.1 - 30 4149 c.4149T>C c.(4147-4149)TAT>TAC p.Y1383Y uc001rjy.2_Intron|uc001rjz.2_Intron RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA TTTTATCTTTATACTCTATGT 0.318 NA 12 9 0 0 0.010729 0 0 C12orf61 283416 broad.mit.edu 37 12 62996808 62996808 + Missense_Mutation SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:62996808G>C uc001sri.1 - 1 407 c.311C>G c.(310-312)CCC>CGC p.P104R MIRLET7I_hsa-let-7i|MI0000434_5'Flank|uc001srj.1_5'Flank NM_175895 NP_787091 Q8N7H1 CL061_HUMAN hypothetical protein LOC283416 104 0 BRCA - Breast invasive adenocarcinoma(9;0.0399) GBM - Glioblastoma multiforme(28;0.134) GGGTGGCCTGGGGACTTCCCG 0.662 NA 5 8 0 0 0.000602 0 0 KCNMB4 27345 broad.mit.edu 37 12 70794043 70794043 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:70794043A>G uc001svx.2 + 2 844 c.391A>G c.(391-393)ATG>GTG p.M131V NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 131 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GGAAAGTGTCATGAATTGGCA 0.348 NA 52 73 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 12 80761504 80761504 + Silent SNP A A C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:80761504A>C uc009zsg.1 + 8 709 c.108A>C c.(106-108)TCA>TCC p.S36S uc001szd.2_Silent_p.S175S RecName: Full=Uncharacterized protein C12orf64; NA TGAATTGTTCAAAAAAATGTG 0.328 NA 2 0 0 0 0.004672 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687368 123687368 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr12:123687368G>A uc001uel.2 - 6 1235 c.1128C>T c.(1126-1128)AAC>AAT p.N376N MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 376 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TCCTACTTTCGTTTTGGAATG 0.403 NA 5 155 0 0 0.000602 0 0 POTEG 404785 broad.mit.edu 37 14 19553772 19553772 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:19553772C>T uc001vuz.1 + 1 408 c.356C>T c.(355-357)CCT>CTT p.P119L POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 119 ovary(1) 1 AAAGTGGGCCCTTGGGGAGAC 0.597 NA 19 244 0 0 0.008871 0 0 OR6S1 341799 broad.mit.edu 37 14 21109020 21109020 + Silent SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:21109020C>A uc001vxv.1 - 1 831 c.831G>T c.(829-831)GTG>GTT p.V277V NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TTATTACTGTCACTGCCCAGT 0.458 NA 44 58 4.67007e-22 5.84937e-22 0.00874 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36159051 36159051 + Nonsense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:36159051G>A uc001wti.2 - 17 2816 c.2425C>T c.(2425-2427)CGA>TGA p.R809* RALGAPA1_uc001wtj.2_Nonsense_Mutation_p.R809*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.R809*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.R856*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.R707* NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 809 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CCTTTGGCTCGTTCAACAGTG 0.458 NA 37 24 0 0 0.007835 0 0 MDGA2 161357 broad.mit.edu 37 14 47600918 47600918 + Silent SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:47600918T>A uc001wwj.3 - 5 913 c.717A>T c.(715-717)ACA>ACT p.T239T MDGA2_uc001wwi.3_Silent_p.T10T|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 239 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATTCCATACCTGTTTTATTGG 0.328 NA 15 10 0 0 0.006122 0 0 SYNE2 23224 broad.mit.edu 37 14 64449507 64449507 + Nonsense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:64449507C>T uc001xgm.2 + 17 2226 c.1996C>T c.(1996-1998)CAA>TAA p.Q666* SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q666* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 666 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCAAAAACTCAACTTGTAAG 0.219 NA 21 22 0 0 0.014323 0 0 DICER1 23405 broad.mit.edu 37 14 95578531 95578531 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:95578531G>A uc001ydw.2 - 14 2276 c.2094C>T c.(2092-2094)TGC>TGT p.C698C DICER1_uc001ydv.2_Silent_p.C688C|DICER1_uc001ydx.2_Silent_p.C698C NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 698 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GTTTCTCACAGCAAATGAGAG 0.343 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 3 53 0 0 0.009096 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409159 105409159 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:105409159G>A uc010axc.1 - 7 12749 c.12629C>T c.(12628-12630)GCC>GTC p.A4210V AHNAK2_uc001ypx.2_Missense_Mutation_p.A4110V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4210 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTGAGGCCGGCTCCCTTGGG 0.642 NA 4 125 0 0 0.009096 0 0 TTBK2 146057 broad.mit.edu 37 15 43069415 43069415 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr15:43069415T>C uc001zqo.2 - 12 1662 c.1223A>G c.(1222-1224)CAT>CGT p.H408R TTBK2_uc010bcy.2_Missense_Mutation_p.H339R|TTBK2_uc001zqp.2_Missense_Mutation_p.H408R|TTBK2_uc010bcz.1_Missense_Mutation_p.H373R NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 408 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGCCTGGCCATGGCTGTTCTC 0.443 NA 19 13 0 0 0.010504 0 0 ACAN 176 broad.mit.edu 37 15 89417108 89417108 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr15:89417108A>G uc010upo.1 + 17 7743 c.7369A>G c.(7369-7371)AGG>GGG p.R2457G ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2457 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGCATGCCAGGACCTTCGG 0.587 NA 11 15 0 0 0.013537 0 0 CHD9 80205 broad.mit.edu 37 16 53358590 53358590 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:53358590A>T uc002ehb.2 + 38 8641 c.8477A>T c.(8476-8478)GAT>GTT p.D2826V CHD9_uc002egy.2_Missense_Mutation_p.D2810V|CHD9_uc002ehc.2_Missense_Mutation_p.D2811V|CHD9_uc002ehf.2_Missense_Mutation_p.D1924V|CHD9_uc010cbw.2_Missense_Mutation_p.D892V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2826 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) AATACTTTTGATGTACAAAAC 0.368 NA 10 12 0 0 0.008291 0 0 NUDT7 283927 broad.mit.edu 37 16 77775669 77775669 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:77775669C>G uc010chd.2 + 4 608 c.539C>G c.(538-540)CCT>CGT p.P180R NUDT7_uc010vnj.1_Missense_Mutation_p.P127R NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 180 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 TACACAAACCCTGAAGACGGT 0.453 NA 19 30 0 0 0.007413 0 0 MVD 4597 broad.mit.edu 37 16 88721708 88721708 + Missense_Mutation SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:88721708T>G uc002flg.1 - 7 803 c.796A>C c.(796-798)ACC>CCC p.T266P MVD_uc002flf.1_Missense_Mutation_p.T135P NM_002461 NP_002452 P53602 MVD1_HUMAN diphosphomevalonate decarboxylase 266 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0478) TCGAGGCAGGTGGCGTGGAAC 0.647 NA 4 10 0 0 0.009096 0 0 C16orf7 9605 broad.mit.edu 37 16 89775334 89775334 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr16:89775334G>A uc002fom.1 - 13 1753 c.1628C>T c.(1627-1629)GCG>GTG p.A543V C16orf7_uc002fol.1_Missense_Mutation_p.A473V|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 543 VPS9. ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GTAGTCTTCCGCACAGACACA 0.682 NA 6 5 0 0 0.001984 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 31 16 3.1745e-13 3.82172e-13 0.008361 1 0 Unknown 0 broad.mit.edu 37 17 16734453 16734453 + Nonstop_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:16734453C>G uc010vwr.1 - 4 1008 c.566G>C c.(565-567)TGA>TCA p.*189S SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16; NA CCACCTTGCTCAGGAACCAGG 0.612 NA 6 9 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 17 16734472 16734472 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:16734472C>G uc010vwr.1 - 4 989 c.547G>C c.(547-549)GAT>CAT p.D183H SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16; NA GGCCCAGCATCTCTGTGGTTG 0.607 NA 6 12 0 0 0.00308 0 0 SMARCE1 6605 broad.mit.edu 37 17 38787102 38787102 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:38787102G>A uc002hux.2 - 10 1015 c.891C>T c.(889-891)CGC>CGT p.R297R SMARCE1_uc010wff.1_Silent_p.R262R|SMARCE1_uc010wfg.1_Silent_p.R227R|SMARCE1_uc002huy.2_Silent_p.R262R|SMARCE1_uc010wfh.1_Silent_p.R227R|SMARCE1_uc010wfi.1_Silent_p.R279R NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 297 Potential. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) CCTGCCTTTTGCGGGCCTGTT 0.512 NA 84 53 0 0 0.01441 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46940221 46940221 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:46940221A>G uc002iof.2 + 13 1274 c.1195A>G c.(1195-1197)ATC>GTC p.I399V CALCOCO2_uc010wlp.1_Missense_Mutation_p.I420V|CALCOCO2_uc010wlq.1_Missense_Mutation_p.I327V|CALCOCO2_uc010wlr.1_Missense_Mutation_p.I423V|CALCOCO2_uc010wls.1_Missense_Mutation_p.I357V NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 399 Interaction with MYO6. response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 GAAATGCCCTATCTGCAAAGC 0.343 NA 73 27 0 0 0.01441 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846773 72846773 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:72846773A>G uc002jlt.1 - 5 1403 c.1247T>C c.(1246-1248)GTG>GCG p.V416A GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.V416A|GRIN2C_uc002jlv.1_3'UTR NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 416 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) AGGGCTCTCCACGATGACAAA 0.657 NA 36 35 0 0 0.004289 0 0 OR7G3 390883 broad.mit.edu 37 19 9237500 9237500 + Missense_Mutation SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:9237500G>C uc010xkl.1 - 1 127 c.127C>G c.(127-129)CTG>GTG p.L43V NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGATGAGCAGGTTCCCCAGC 0.547 NA 14 20 0 0 0.003163 0 0 KEAP1 9817 broad.mit.edu 37 19 10602335 10602335 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:10602335G>A uc002moq.1 - 3 1399 c.1243C>T c.(1243-1245)CGC>TGC p.R415C KEAP1_uc002mop.1_Missense_Mutation_p.R133C|KEAP1_uc002mor.1_Missense_Mutation_p.R415C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 415 Kelch 2. R->A: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACCCCGATGCGGTTACGGGGC 0.657 NA 8 8 0 0 0.004482 0 0 PAK4 10298 broad.mit.edu 37 19 39660357 39660357 + Missense_Mutation SNP A A C rs112229040 TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr19:39660357A>C uc002okj.1 + 4 625 c.164A>C c.(163-165)GAC>GCC p.D55A PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 55 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CCCCTCGTCGACCCCGCCTGC 0.716 NA 6 11 0 0 0.001855 0 0 ITSN2 50618 broad.mit.edu 37 2 24432687 24432687 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:24432687C>T uc002rfe.2 - 35 4731 c.4473G>A c.(4471-4473)ACG>ACA p.T1491T ITSN2_uc002rff.2_Silent_p.T1464T NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1491 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATACTCACCGTTTTATACA 0.502 NA 23 63 0 0 0.014323 0 0 EML4 27436 broad.mit.edu 37 2 42552612 42552612 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:42552612T>C uc002rsi.2 + 20 2422 c.2160T>C c.(2158-2160)CAT>CAC p.H720H EML4_uc010fap.2_Silent_p.H662H|EML4_uc002rsj.2_Silent_p.H409H|EML4_uc010faq.2_Silent_p.H65H|EML4_uc010ynv.1_5'UTR NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 720 WD 8. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 TCTAGGGACATTCCAGCTACA 0.348 NA T ALK NSCLC 3 10 0 0 0.004672 0 0 PRKCE 5581 broad.mit.edu 37 2 46411986 46411986 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:46411986G>T uc002rut.2 + 15 2377 c.2180G>T c.(2179-2181)GGT>GTT p.G727V NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 727 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GAATTCAAAGGTTTCTCCTAC 0.498 NA 25 40 4.26978e-12 4.99483e-12 0.00333 1 0 REG1B 5968 broad.mit.edu 37 2 79314689 79314689 + Missense_Mutation SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:79314689A>G uc002sny.2 - 2 162 c.50T>C c.(49-51)CTG>CCG p.L17P REG1B_uc010ffv.1_Missense_Mutation_p.L17P|REG1B_uc010ffw.2_Missense_Mutation_p.L17P NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 17 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GCTCAGAGACAGGAACATCAG 0.468 NA 9 27 0 0 0.004482 0 0 MAL 4118 broad.mit.edu 37 2 95715324 95715324 + Splice_Site SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:95715324A>G uc002stx.1 + 3 321 c.262_splice c.e3-2 p.D88_splice MAL_uc002sty.1_Splice_Site_p.D32_splice|MAL_uc002stz.1_Intron|MAL_uc002sua.1_Intron NM_002371 NP_002362 P21145 MAL_HUMAN T-lymphocyte maturation-associated protein apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath 0 STAD - Stomach adenocarcinoma(1183;0.18) TCTGCCCCATAGGACGCAGCC 0.657 NA 21 33 0 0 0.00333 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883921 105883921 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:105883921T>C uc002tcq.2 - 12 2586 c.2502A>G c.(2500-2502)CCA>CCG p.P834P TGFBRAP1_uc010fjc.2_Silent_p.P603P|TGFBRAP1_uc002tcr.3_Silent_p.P834P|uc002tcp.2_5'Flank NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 834 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 GACCACCATTTGGGTATCTAA 0.493 Esophageal Squamous(183;794 2019 9730 21801 48859) NA 42 53 0 0 0.009718 0 0 ABCA12 26154 broad.mit.edu 37 2 215862422 215862422 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:215862422A>T uc002vew.2 - 23 3511 c.3291T>A c.(3289-3291)CAT>CAA p.H1097Q ABCA12_uc002vev.2_Missense_Mutation_p.H779Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H24Q NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1097 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AACATACCTCATGAAGCCGGA 0.358 Ovarian(66;664 1488 5121 34295) NA 27 17 0 0 0.003954 0 0 SCG2 7857 broad.mit.edu 37 2 224462881 224462881 + Missense_Mutation SNP T T G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:224462881T>G uc002vnm.2 - 2 1253 c.1120A>C c.(1120-1122)AAG>CAG p.K374Q NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 374 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CCATTCGGCTTCTCCCCAGTT 0.453 NA 42 39 0 0 0.006999 0 0 USP40 55230 broad.mit.edu 37 2 234394527 234394527 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr2:234394527C>T uc010zmr.1 - 28 3327 c.3327G>A c.(3325-3327)GGG>GGA p.G1109G USP40_uc002vul.2_Silent_p.G93G|USP40_uc010zms.1_Silent_p.G207G NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 1097 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AGCCGGCAGTCCCACCCTGGG 0.592 NA 8 2 0 0 0.00308 0 0 PRND 23627 broad.mit.edu 37 20 4705263 4705263 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr20:4705263T>C uc002wkz.2 + 2 137 c.66T>C c.(64-66)TCT>TCC p.S22S NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 22 S -> P. protein homooligomerization anchored to membrane|plasma membrane 0 GCCACCTCTCTGCGGTCCAGA 0.627 NA 22 21 0 0 0.010504 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514506 58514506 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr20:58514506G>A uc002ybb.2 - 1 847 c.481C>T c.(481-483)CCG>TCG p.P161S C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 161 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) TCGACGGGCGGCGGGAAATCG 0.677 NA 3 11 0 0 0.004672 0 0 TFIP11 24144 broad.mit.edu 37 22 26892780 26892780 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:26892780C>T uc003acr.2 - 10 1886 c.1512G>A c.(1510-1512)ATG>ATA p.M504I TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.M504I|TFIP11_uc003act.2_Missense_Mutation_p.M504I NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 504 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 AAAAGTCCACCATCGGGTCAC 0.478 NA 11 80 0 0 0.010729 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961504 50961504 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:50961504C>T uc003blr.3 + 19 1708 c.1586C>T c.(1585-1587)CCC>CTC p.P529L NCAPH2_uc003blv.2_Missense_Mutation_p.P529L|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P530L|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 529 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TCACGGTTCCCCCAGCTCAAT 0.632 NA 8 6 0 0 0.00308 0 0 SETD2 29072 broad.mit.edu 37 3 47158225 47158225 + Nonsense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr3:47158225G>A uc003cqs.2 - 4 4527 c.4474C>T c.(4474-4476)CGA>TGA p.R1492* SETD2_uc003cqv.2_Nonsense_Mutation_p.R1481* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1492 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R989*(1) kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAATATCTCGATGAGATTTA 0.313 NA N|F|S|Mis clear cell renal carcinoma 17 25 0 0 0.00499 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86491836 86491836 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:86491836C>T uc003hpk.2 + 2 591 c.142C>T c.(142-144)CTC>TTC p.L48F ARHGAP24_uc003hpi.1_Missense_Mutation_p.L48F|ARHGAP24_uc003hpj.2_Missense_Mutation_p.L48F NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 48 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GGGGGATCAGCTCTATTATTT 0.473 NA 20 23 0 0 0.00278 0 0 PPP3CA 5530 broad.mit.edu 37 4 101953470 101953470 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:101953470C>A uc011cen.1 - 12 1968 c.1293G>T c.(1291-1293)ATG>ATT p.M431I PPP3CA_uc003hvu.2_Missense_Mutation_p.M431I|PPP3CA_uc010ilj.2_Missense_Mutation_p.M389I|PPP3CA_uc003hvt.2_Missense_Mutation_p.M418I|PPP3CA_uc003hvs.2_Missense_Mutation_p.M364I|PPP3CA_uc010ilk.2_Missense_Mutation_p.M199I NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 431 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CGCTGGGGAGCATGCCAGTTG 0.522 NA 9 12 0.000673444 0.000726148 0.008291 1 0 ANK2 287 broad.mit.edu 37 4 114209548 114209548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:114209548G>T uc003ibe.3 + 20 2283 c.2183G>T c.(2182-2184)GGT>GTT p.G728V ANK2_uc003ibd.3_Missense_Mutation_p.G707V|ANK2_uc003ibf.3_Missense_Mutation_p.G728V|ANK2_uc003ibc.2_Missense_Mutation_p.G704V|ANK2_uc011cgb.1_Missense_Mutation_p.G743V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 728 ANK 22. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTACAGCTTGGTTACACACCT 0.358 NA 31 32 1.61788e-16 1.98631e-16 0.012213 1 0 NPY1R 4886 broad.mit.edu 37 4 164247323 164247323 + Missense_Mutation SNP A A C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:164247323A>C uc003iqm.1 - 2 650 c.384T>G c.(382-384)ATT>ATG p.I128M NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 128 Helical; Name=3; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAGAGAGAAAATGGACACAG 0.423 NA 12 61 0 0 0.010729 0 0 TRIM60 166655 broad.mit.edu 37 4 165962548 165962548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr4:165962548G>T uc003iqy.1 + 3 1494 c.1324G>T c.(1324-1326)GAT>TAT p.D442Y TRIM60_uc010iqx.1_Missense_Mutation_p.D442Y NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 442 B30.2/SPRY. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TACTTTTAACGATTGTTTCAC 0.343 NA 33 29 5.60225e-13 6.6796e-13 0.009535 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 144977 144977 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:144977T>C uc003jak.2 + 4 829 c.779T>C c.(778-780)GTG>GCG p.V260A NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 260 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTTGTCCTGGTGGATGCACGC 0.567 NA 16 36 0 0 0.004007 0 0 SPEF2 79925 broad.mit.edu 37 5 35670182 35670182 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:35670182G>T uc003jjo.2 + 10 1488 c.1377G>T c.(1375-1377)ATG>ATT p.M459I SPEF2_uc003jjn.1_Missense_Mutation_p.M459I|SPEF2_uc003jjq.3_Missense_Mutation_p.M459I NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 459 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATAAGTTGATGCATGATTGGA 0.323 NA 25 64 6.36457e-07 7.10998e-07 0.003954 1 0 FBXL17 64839 broad.mit.edu 37 5 107700656 107700656 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:107700656T>C uc011cvc.1 - 3 1564 c.1157A>G c.(1156-1158)CAG>CGG p.Q386R FBXL17_uc003kon.3_5'UTR NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 386 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AATTATATTCTGACTTCTTGA 0.308 NA 18 28 0 0 0.007413 0 0 SRP19 6728 broad.mit.edu 37 5 112228539 112228539 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr5:112228539G>A uc011cvv.1 + 4 1533 c.1278G>A c.(1276-1278)GAG>GAA p.E426E SRP19_uc011cvu.1_Silent_p.E411E|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) GGGAATCCGAGAGAAAAAAGA 0.512 NA 6 11 0 0 0.001168 0 0 PGBD1 84547 broad.mit.edu 37 6 28253402 28253402 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:28253402G>T uc003nky.2 + 3 841 c.471G>T c.(469-471)CAG>CAT p.Q157H PGBD1_uc003nkz.2_Missense_Mutation_p.Q157H NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 157 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGGAGTGTCAGAGCCTCCAGC 0.502 NA 18 24 2.4624e-09 2.8272e-09 0.008871 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34802533 34802533 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:34802533C>T uc003oju.3 + 6 798 c.564C>T c.(562-564)CTC>CTT p.L188L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 188 ovary(3) 3 GGCAAACACTCCGAATTGAGG 0.423 NA 49 60 0 0 0.01441 0 0 TCTE1 202500 broad.mit.edu 37 6 44250206 44250206 + Missense_Mutation SNP C C G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:44250206C>G uc003oxi.2 - 4 1093 c.937G>C c.(937-939)GAC>CAC p.D313H SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 313 LRR 1. ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGTGACAAGTCCAGCTCCTCG 0.567 NA 22 17 0 0 0.012319 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862734 84862734 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:84862734T>A uc010kbp.2 - 23 3256 c.3159A>T c.(3157-3159)AAA>AAT p.K1053N KIAA1009_uc003pkj.3_Missense_Mutation_p.K977N|KIAA1009_uc003pki.3_Missense_Mutation_p.K439N NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 1053 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTCTGATGTTTAAGAACGT 0.383 NA 15 18 0 0 0.004007 0 0 PLG 5340 broad.mit.edu 37 6 161162365 161162365 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr6:161162365G>T uc003qtm.3 + 17 2104 c.2041G>T c.(2041-2043)GTA>TTA p.V681L NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 681 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACTGACAAAGTAATCCCAGC 0.493 NA 26 18 7.01153e-11 8.12552e-11 0.007291 1 0 MYL10 93408 broad.mit.edu 37 7 101266291 101266291 + Missense_Mutation SNP G G T rs144539367 byFrequency TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:101266291G>T uc003uyr.2 - 4 513 c.335C>A c.(334-336)ACC>AAC p.T112N NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 112 EF-hand 1. mitochondrion calcium ion binding ovary(1)|breast(1) 2 CGCGGCAAAGGTGTCCCTCAA 0.627 Esophageal Squamous(24;575 709 17516 40384 51639) NA 12 21 7.93312e-07 8.7831e-07 0.00245 1 0 FEZF1 389549 broad.mit.edu 37 7 121942893 121942893 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:121942893C>T uc003vkd.2 - 3 1103 c.1029G>A c.(1027-1029)CCG>CCA p.P343P FEZF1_uc003vkc.2_Silent_p.P293P|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 343 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CACACACAAACGGTTTGTAGC 0.393 NA 51 129 0 0 0.01441 0 0 KIAA1549 57670 broad.mit.edu 37 7 138554409 138554409 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:138554409T>C uc011kql.1 - 14 4699 c.4650A>G c.(4648-4650)GTA>GTG p.V1550V KIAA1549_uc011kqi.1_Silent_p.V334V|KIAA1549_uc003vuk.3_Silent_p.V1500V|KIAA1549_uc011kqj.1_Silent_p.V1550V|KIAA1549_uc011kqk.1_Silent_p.V334V NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1550 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 ACAGGTCGTCTACCACCGGGA 0.642 NSCLC(119;1534 1718 44213 46230 50068) NA O BRAF pilocytic astrocytoma 5 22 0 0 0.00308 0 0 TRPV5 56302 broad.mit.edu 37 7 142605736 142605736 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr7:142605736A>G uc003wby.1 - 15 2398 c.2134T>C c.(2134-2136)TTG>CTG p.L712L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 712 Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CCAAGATTCAAGTGCCCCAGG 0.552 NA 27 46 0 0 0.008361 0 0 PTK2B 2185 broad.mit.edu 37 8 27255117 27255117 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:27255117G>A uc003xfn.1 + 7 824 c.16G>A c.(16-18)GAG>AAG p.E6K PTK2B_uc003xfo.1_Missense_Mutation_p.E6K|PTK2B_uc003xfp.1_Missense_Mutation_p.E6K|PTK2B_uc003xfq.1_Missense_Mutation_p.E6K NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 6 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TGGGGTGTCCGAGCCCCTGAG 0.607 NA 10 42 0 0 0.00278 0 0 PURG 29942 broad.mit.edu 37 8 30890170 30890170 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:30890170C>T uc003xin.2 - 1 148 c.129G>A c.(127-129)GCG>GCA p.A43A WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.A43A NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 43 nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TGGCTGAGGCCGCGTAGTGGG 0.532 NA 6 16 0 0 0.001168 0 0 RBM12B 389677 broad.mit.edu 37 8 94747222 94747222 + Nonsense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:94747222T>A uc003yfz.2 - 3 1610 c.1417A>T c.(1417-1419)AGA>TGA p.R473* NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 473 RRM 3. nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GATATAAGTCTTAATAACACC 0.418 NA 96 175 0 0 0.01441 0 0 ESRP1 54845 broad.mit.edu 37 8 95680478 95680478 + Missense_Mutation SNP G G C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:95680478G>C uc003ygq.3 + 10 1416 c.1233G>C c.(1231-1233)CAG>CAC p.Q411H ESRP1_uc003ygr.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygs.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygt.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygu.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygv.2_Missense_Mutation_p.Q251H|ESRP1_uc003ygw.2_Missense_Mutation_p.Q251H NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 411 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 AAGTTCAGCAGGTTGGTTTTA 0.368 NA 16 28 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113347698 113347699 + Missense_Mutation DNP CC CC AT TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:113347698_113347699CC>AT uc003ynu.2 - 45 7183_7184 c.7024_7025GG>AT c.(7024-7026)GGA>ATA p.G2342I CSMD3_uc003yns.2_Missense_Mutation_p.G1544I|CSMD3_uc003ynt.2_Missense_Mutation_p.G2302I|CSMD3_uc011lhx.1_Missense_Mutation_p.G2238I|CSMD3_uc003ynw.1_Missense_Mutation_p.G53I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2342 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTGGTCTGGTCCATCCCTATGA 0.371 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 18 0 0 0.004672 0 0 ZHX2 22882 broad.mit.edu 37 8 123964400 123964400 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:123964400G>T uc003ypk.1 + 3 1217 c.650G>T c.(649-651)CGC>CTC p.R217L NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 217 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GGGACCGCCCGCCTGGTGACA 0.592 Esophageal Squamous(94;1056 1388 11767 13799 49639) NA 26 73 1.50538e-07 1.69697e-07 0.00632 1 0 GSDMC 56169 broad.mit.edu 37 8 130764122 130764122 + Missense_Mutation SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:130764122T>C uc003ysr.2 - 9 1784 c.902A>G c.(901-903)CAC>CGC p.H301R NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 301 mitochondrion ovary(2)|skin(1) 3 TGGGAGGATGTGAACTTGTTC 0.498 NA 90 221 0 0 0.01441 0 0 SMARCA2 6595 broad.mit.edu 37 9 2056747 2056747 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:2056747C>T uc003zhc.2 + 7 1348 c.1249C>T c.(1249-1251)CGG>TGG p.R417W SMARCA2_uc003zhd.2_Missense_Mutation_p.R417W|SMARCA2_uc010mha.2_Missense_Mutation_p.R408W NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 417 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGCATACAAACGGAGCAAGCG 0.557 NA 11 12 0 0 0.008291 0 0 FREM1 158326 broad.mit.edu 37 9 14848694 14848694 + Silent SNP A A G TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:14848694A>G uc003zlm.2 - 7 1820 c.1230T>C c.(1228-1230)GAT>GAC p.D410D FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 410 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GGGCATTTGTATCTGCTGTTC 0.413 NA 32 31 0 0 0.013726 0 0 CNTLN 54875 broad.mit.edu 37 9 17415873 17415873 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:17415873A>T uc003zmz.2 + 17 2907 c.2881A>T c.(2881-2883)ACT>TCT p.T961S CNTLN_uc003zmy.2_Missense_Mutation_p.T962S|CNTLN_uc010mio.2_Missense_Mutation_p.T641S NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 962 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AGCAGTTCCTACTAGAGGTAA 0.269 NA 24 24 0 0 0.003954 0 0 GABBR2 9568 broad.mit.edu 37 9 101068494 101068494 + Missense_Mutation SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr9:101068494G>A uc004ays.2 - 15 2294 c.2138C>T c.(2137-2139)ACC>ATC p.T713I NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 713 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTGGTCCCGGGTCAGGAAGGA 0.577 NA 8 9 0 0 0.00308 0 0 MXRA5 25878 broad.mit.edu 37 X 3239235 3239235 + Silent SNP G G A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:3239235G>A uc004crg.3 - 5 4648 c.4491C>T c.(4489-4491)TCC>TCT p.S1497S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1497 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGAGAATTGTGGATGGGGACG 0.473 NA 49 32 0 0 0.01441 0 0 DMD 1756 broad.mit.edu 37 X 32613910 32613910 + Silent SNP T T C TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:32613910T>C uc004dda.1 - 13 1810 c.1566A>G c.(1564-1566)GGA>GGG p.G522G DMD_uc004dcz.2_Silent_p.G399G|DMD_uc004dcy.1_Silent_p.G518G|DMD_uc004ddb.1_Silent_p.G514G|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.G514G|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 522 Spectrin 2. Missing (in BMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGCGTGATCTCCACTAGATT 0.353 NA 21 16 0 0 0.012319 0 0 SEPT6 23157 broad.mit.edu 37 X 118771105 118771105 + Missense_Mutation SNP C C A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:118771105C>A uc004erv.2 - 7 1106 c.841G>T c.(841-843)GTC>TTC p.V281F SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.V281F|SEPT6_uc004ert.2_Missense_Mutation_p.V281F|SEPT6_uc004eru.2_Missense_Mutation_p.V281F|SEPT6_uc004erw.2_Missense_Mutation_p.V223F|SEPT6_uc011mtv.1_Missense_Mutation_p.V223F|SEPT6_uc011mtw.1_Missense_Mutation_p.V311F NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 281 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 TCCATGTTGACCCGAATCAGC 0.547 NA 11 19 6.31663e-08 7.18589e-08 0.003163 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128877985 128877985 + Missense_Mutation SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:128877985C>T uc004eut.1 + 3 416 c.172C>T c.(172-174)CGC>TGC p.R58C XPNPEP2_uc011mum.1_Missense_Mutation_p.R58C NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 58 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 CACAGCCCTCCGCCAGCAGAT 0.498 NA 9 86 0 0 0.006214 0 0 SAGE1 55511 broad.mit.edu 37 X 134990731 134990731 + Missense_Mutation SNP A A T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:134990731A>T uc004ezh.2 + 12 1563 c.1396A>T c.(1396-1398)AAT>TAT p.N466Y SAGE1_uc010nry.1_Missense_Mutation_p.N435Y|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 466 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CGGGCTTATTAATATGGCAGG 0.413 NA 73 56 0 0 0.01441 0 0 GPR112 139378 broad.mit.edu 37 X 135430519 135430519 + Missense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:135430519T>A uc004ezu.1 + 6 4945 c.4654T>A c.(4654-4656)TGT>AGT p.C1552S GPR112_uc010nsb.1_Missense_Mutation_p.C1347S|GPR112_uc010nsc.1_Missense_Mutation_p.C1319S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1552 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C1552Y(1) ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GAAAAGTCCCTGTACAGCCAC 0.418 NA 67 44 0 0 0.01441 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716785 142716785 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chrX:142716785G>T uc004fbx.2 - 2 2516 c.2140C>A c.(2140-2142)CCT>ACT p.P714T SLITRK4_uc004fby.2_Missense_Mutation_p.P714T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 714 Cytoplasmic (Potential). integral to membrane p.P714T(1) upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGTCCTGGAGGATCTGAAAAC 0.423 NA 61 40 2.44813e-32 3.09764e-32 0.01441 1 0 FGFR2 2263 broad.mit.edu 37 10 123324018 123324020 + In_Frame_Del DEL TTG TTG - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 TTG TTG - - TTG TTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr10:123324018_123324020delTTG uc010qtk.1 - 4 1097_1099 c.450_452delCAA c.(448-453)AACAAG>AAG p.N150del FGFR2_uc010qtg.1_In_Frame_Del_p.N150del|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_In_Frame_Del_p.N61del|FGFR2_uc010qtj.1_In_Frame_Del_p.N150del|FGFR2_uc010qtl.1_In_Frame_Del_p.N150del|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_In_Frame_Del_p.N150del|FGFR2_uc001lfm.2_In_Frame_Del_p.N61del|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_In_Frame_Del_p.N169del|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_In_Frame_Del_p.N169del|FGFR2_uc010qtp.1_In_Frame_Del_p.N169del|FGFR2_uc010qtq.1_In_Frame_Del_p.N169del NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 150 Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTACTTACTCTTGTTGTTACTGT 0.507 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 20 93 --- --- --- --- NA NA NA NA NA BUD13 84811 broad.mit.edu 37 11 116633839 116633839 + Frame_Shift_Del DEL G G - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr11:116633839delG uc001ppn.2 - 4 500 c.466delC c.(466-468)CGTfs p.R156fs BUD13_uc001ppo.2_Frame_Shift_Del_p.R156fs|BUD13_uc009yzc.2_Frame_Shift_Del_p.R156fs NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 156 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GTGTCATGACGGGCCCTCCTA 0.587 NA 52 110 --- --- --- --- NA NA NA NA NA DACT1 51339 broad.mit.edu 37 14 59113753 59113753 + Frame_Shift_Del DEL C C - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr14:59113753delC uc001xdw.2 + 4 2576 c.2412delC c.(2410-2412)CACfs p.H804fs DACT1_uc010trv.1_Frame_Shift_Del_p.H523fs|DACT1_uc001xdx.2_Frame_Shift_Del_p.H767fs|DACT1_uc010trw.1_Frame_Shift_Del_p.H523fs NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 804 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 TTCACAACCACCCCGCAAAAA 0.502 NA 33 49 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29676209 29676209 + Frame_Shift_Del DEL A A - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr17:29676209delA uc002hgg.2 + 49 7594 c.7261delA c.(7261-7263)AACfs p.N2421fs NF1_uc002hgh.2_Frame_Shift_Del_p.N2400fs|NF1_uc010cso.2_Frame_Shift_Del_p.N609fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2421 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AACTCTGGTTAACAAACACAG 0.313 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 15 --- --- --- --- NA NA NA NA NA PLXNB2 23654 broad.mit.edu 37 22 50718982 50718982 + Frame_Shift_Del DEL T T - TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr22:50718982delT uc003bkv.3 - 25 4217 c.4111delA c.(4111-4113)ACGfs p.T1371fs PLXNB2_uc003bkt.1_Frame_Shift_Del_p.T163fs|PLXNB2_uc003bku.1_Frame_Shift_Del_p.T356fs NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1371 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGAAGAGCGTGTGCATGATG 0.532 NA 22 30 --- --- --- --- NA NA NA NA NA TEX15 56154 broad.mit.edu 37 8 30701411 30701412 + Frame_Shift_Ins INS - - T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:30701411_30701412insT uc003xil.2 - 1 5122_5123 c.5122_5123insA c.(5122-5124)AGGfs p.R1708fs NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1708 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCTAAGTGCCTTTTTTTGTTT 0.376 NA 7 131 --- --- --- --- NA NA NA NA NA RAD21 5885 broad.mit.edu 37 8 117869548 117869549 + Frame_Shift_Del DEL TA TA - rs143910582 by1000genomes TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ff368c6d-fedb-49cc-b519-7726816aff8d 2660c208-3cf3-4408-9ed1-370cc3479648 g.chr8:117869548_117869549delTA uc003yod.2 - 6 933_934 c.645_646delTA c.(643-648)TATAAGfs p.Y215fs NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 215_216 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) TTATCATCCTTATATTGATCTT 0.327 NA 48 86 --- --- --- --- NA NA NA NA NA